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 ABCC4 0 genome.wustl.edu 37 13 95727760 95727760 + Missense_Mutation SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 95727760 95727760 A G SNP ABCC4 ENST00000376887 human ensembl 69_37n -1 known missense c.2732 p.L911P 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,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 67 0 0.00 51 16 23.88 - - - ADAM10 0 genome.wustl.edu 37 15 58903290 58903290 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 15 58903290 58903290 A C SNP ADAM10 ENST00000260408 human ensembl 69_37n -1 known missense c.1712 p.I571S 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 35 0 0.00 29 4 12.12 - - - ADAMTS7 0 genome.wustl.edu 37 15 79058017 79058017 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 15 79058017 79058017 G T SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known missense c.4236 p.N1412K 0.879 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 231 0 0.00 245 39 13.64 - - - ALX1 0 genome.wustl.edu 37 12 85674145 85674145 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 12 85674145 85674145 G C SNP ALX1 ENST00000316824 human ensembl 69_37n +1 known missense c.106 p.D36H 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors ALX1 HGNC ENSG00000180318 49 0 0.00 46 7 13.21 - - - ANGPTL4 0 genome.wustl.edu 37 19 8436129 8436129 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 8436129 8436129 G C SNP ANGPTL4 ENST00000301455 human ensembl 69_37n +1 known missense c.762 p.E254D 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL4 HGNC ENSG00000167772 31 0 0.00 34 8 19.05 - - - ARID3C 0 genome.wustl.edu 37 9 34625785 34625785 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 9 34625785 34625785 C G SNP ARID3C ENST00000378909 human ensembl 69_37n -1 known missense c.345 p.K115N 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3C HGNC ENSG00000205143 44 0 0.00 31 10 24.39 - - - ATP10A 0 genome.wustl.edu 37 15 25959223 25959223 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 15 25959223 25959223 C T SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.1942 p.D648N 0.839 superfamily_HAD-like_dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 127 0 0.00 127 55 30.22 - - - B3GNT2 0 genome.wustl.edu 37 2 62450520 62450520 + Nonsense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 62450520 62450520 C T SNP B3GNT2 ENST00000301998 human ensembl 69_37n +1 known nonsense c.1165 p.Q389* 0.919 NULL pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 39 0 0.00 30 7 18.92 - - - C10orf95 0 genome.wustl.edu 37 10 104211144 104211145 + Frame_Shift_Del DEL TG TG - TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 10 104211144 104211145 TG - DEL C10orf95 ENST00000239125 human ensembl 69_37n -1 known frame_shift_del c.82_81 p.D27fs 0.978:0.961 NULL NULL - no_errors C10orf95 HGNC ENSG00000120055 35 0 0.00 55 10 15.38 - - - C1orf173 0 genome.wustl.edu 37 1 75100419 75100419 + RNA SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 75100419 75100419 A C SNP C1orf173 ENST00000479666 human ensembl 69_37n -1 known rna NULL NULL 0.992 - - - no_errors C1orf173 HGNC ENSG00000178965 14 0 0.00 9 5 35.71 - - - C5orf38 0 genome.wustl.edu 37 5 2755228 2755228 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 5 2755228 2755228 G A SNP C5orf38 ENST00000397835 human ensembl 69_37n +1 putative missense c.419 p.G140D 0.000 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 28 0 0.00 18 5 21.74 - - - C6orf163 0 genome.wustl.edu 37 6 88074687 88074687 + Missense_Mutation SNP T T A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 88074687 88074687 T A SNP C6orf163 ENST00000388923 human ensembl 69_37n +1 known missense c.563 p.V188E 0.135 NULL NULL - no_errors C6orf163 HGNC ENSG00000203872 39 0 0.00 25 5 16.67 - - - C7orf62 0 genome.wustl.edu 37 7 88423598 88423598 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 88423598 88423598 G C SNP C7orf62 ENST00000297203 human ensembl 69_37n -1 known missense c.659 p.S220C 0.001 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 48 0 0.00 50 6 10.71 - - - CADPS2 0 genome.wustl.edu 37 7 122078500 122078500 + Missense_Mutation SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 122078500 122078500 C A SNP CADPS2 ENST00000449022 human ensembl 69_37n -1 known missense c.2371 p.A791S 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 43 0 0.00 34 7 17.07 - - - CCDC135 0 genome.wustl.edu 37 16 57755632 57755632 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 16 57755632 57755632 G C SNP CCDC135 ENST00000360716 human ensembl 69_37n +1 known missense c.1260 p.Q420H 0.988 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 76 0 0.00 50 9 15.25 - - - CCDC69 0 genome.wustl.edu 37 5 150564003 150564003 + Splice_Site SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 5 150564003 150564003 C G SNP CCDC69 ENST00000355417 human ensembl 69_37n -1 known splice_site c.616-1 e8-1 1.000 - - - no_errors CCDC69 HGNC ENSG00000198624 33 0 0.00 18 6 25.00 - - - CCL20 0 genome.wustl.edu 37 2 228680153 228680154 + RNA INS - - T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 228680153 228680154 - T INS CCL20 ENST00000473642 human ensembl 69_37n +1 known rna NULL NULL 0.008:0.010 - - - no_errors CCL20 HGNC ENSG00000115009 21 0 0.00 16 3 15.79 - - - CCR2 0 genome.wustl.edu 37 3 46399722 46399722 + Missense_Mutation SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 3 46399722 46399722 A T SNP CCR2 ENST00000292301 human ensembl 69_37n +1 known missense c.704 p.E235V 0.166 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 41 0 0.00 35 7 16.67 - - - CLEC4M 0 genome.wustl.edu 37 19 7830731 7830731 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 7830731 7830731 G A SNP CLEC4M ENST00000327325 human ensembl 69_37n +1 known missense c.422 p.R141Q 0.005 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC ENSG00000104938 58 0 0.00 63 11 14.86 - - - CLIC5 0 genome.wustl.edu 37 6 46047560 46047560 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 46047560 46047560 G T SNP CLIC5 ENST00000185206 human ensembl 69_37n -1 known missense c.420 p.S140R 0.629 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 37 0 0.00 43 6 12.24 - - - CMA1 0 genome.wustl.edu 37 14 24975399 24975399 + Silent SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 24975399 24975399 C A SNP CMA1 ENST00000250378 human ensembl 69_37n -1 known silent c.435 p.R145 0.685 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors CMA1 HGNC ENSG00000092009 31 0 0.00 32 4 11.11 - - - COG1 0 genome.wustl.edu 37 17 71203396 71203396 + Splice_Site SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 17 71203396 71203396 G A SNP COG1 ENST00000299886 human ensembl 69_37n +1 known splice_site c.2805+1 e13+1 1.000 - - - no_errors COG1 HGNC ENSG00000166685 37 0 0.00 21 8 27.59 - - - COL6A1 0 genome.wustl.edu 37 21 47423943 47423943 + RNA SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 21 47423943 47423943 G A SNP COL6A1 ENST00000486023 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors COL6A1 HGNC ENSG00000142156 34 0 0.00 38 5 11.63 - - - COPA 0 genome.wustl.edu 37 1 160275320 160275320 + Missense_Mutation SNP T T C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 160275320 160275320 T C SNP COPA ENST00000368069 human ensembl 69_37n -1 known missense c.1597 p.I533V 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 49 0 0.00 36 25 40.98 - - - CRMP1 0 genome.wustl.edu 37 4 5841382 5841382 + Missense_Mutation SNP T T C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 5841382 5841382 T C SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known missense c.1177 p.I393V 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 41 0 0.00 61 13 17.57 - - - DHX37 0 genome.wustl.edu 37 12 125470788 125470788 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 12 125470788 125470788 C G SNP DHX37 ENST00000308736 human ensembl 69_37n -1 known missense c.130 p.D44H 0.943 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 38 0 0.00 32 7 17.95 - - - DNAH17 0 genome.wustl.edu 37 17 76421448 76421448 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 17 76421448 76421448 C T SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.13189 p.V4397M 0.987 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 57 0 0.00 41 7 14.58 - - - DNAH8 0 genome.wustl.edu 37 6 38899636 38899636 + Missense_Mutation SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 38899636 38899636 A G SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.10673 p.Y3558C 1.000 NULL 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 15 0 0.00 20 13 39.39 - - - DOCK9 0 genome.wustl.edu 37 13 99534235 99534235 + Silent SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 99534235 99534235 C T SNP DOCK9 ENST00000339416 human ensembl 69_37n -1 known silent c.2589 p.V863 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 53 0 0.00 56 9 13.85 - - - DTHD1 0 genome.wustl.edu 37 4 36286023 36286023 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 36286023 36286023 A C SNP DTHD1 ENST00000456874 human ensembl 69_37n +1 known missense c.322 p.N108H 0.004 NULL pfam_Death,superfamily_DEATH-like,pfscan_Death - no_errors DTHD1 HGNC ENSG00000197057 22 0 0.00 14 9 39.13 - - - DTX4 0 genome.wustl.edu 37 11 58949804 58949804 + Silent SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 11 58949804 58949804 G T SNP DTX4 ENST00000227451 human ensembl 69_37n +1 known silent c.804 p.G268 0.002 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 42 0 0.00 32 5 13.51 - - - DUSP10 0 genome.wustl.edu 37 1 221875987 221875987 + Missense_Mutation SNP T T A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 221875987 221875987 T A SNP DUSP10 ENST00000366899 human ensembl 69_37n -1 known missense c.1216 p.I406F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 34 0 0.00 31 11 26.19 - - - DUSP13 0 genome.wustl.edu 37 10 76857643 76857643 + Silent SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 10 76857643 76857643 C T SNP DUSP13 ENST00000491677 human ensembl 69_37n -1 known silent c.387 p.R129 0.999 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 31 0 0.00 23 6 20.69 - - - DYRK3 0 genome.wustl.edu 37 1 206821263 206821263 + Silent SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 206821263 206821263 G T SNP DYRK3 ENST00000367109 human ensembl 69_37n +1 known silent c.720 p.V240 0.994 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 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 DYRK3 HGNC ENSG00000143479 51 0 0.00 67 9 11.84 - - - EEF1A2 0 genome.wustl.edu 37 20 62121944 62121944 + Missense_Mutation SNP T T A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 20 62121944 62121944 T A SNP EEF1A2 ENST00000217182 human ensembl 69_37n -1 known missense c.917 p.D306V 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 76 0 0.00 60 31 34.07 - - - EFNA3 0 genome.wustl.edu 37 1 155058949 155058949 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 155058949 155058949 G T SNP EFNA3 ENST00000368408 human ensembl 69_37n +1 known missense c.647 p.S216I 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA3 HGNC ENSG00000143590 77 0 0.00 80 11 12.09 - - - EGF 0 genome.wustl.edu 37 4 110932572 110932572 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 110932572 110932572 G C SNP EGF ENST00000265171 human ensembl 69_37n +1 known missense c.3585 p.R1195S 0.002 NULL pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 19 0 0.00 13 5 27.78 - - - EMG1 0 genome.wustl.edu 37 12 7080048 7080048 + RNA SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 12 7080048 7080048 A T SNP EMG1 ENST00000261406 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors EMG1 HGNC ENSG00000126749 79 0 0.00 82 12 12.77 - - - ENSG00000226150 0 genome.wustl.edu 37 7 6836437 6836437 + RNA SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 6836437 6836437 G T SNP ENSG00000226150 ENST00000429267 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors AC073343.11 Clone_based_vega_gene ENSG00000226150 9 0 0.00 6 5 45.45 - - - EXD2 0 genome.wustl.edu 37 14 69708534 69708534 + RNA SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 69708534 69708534 C G SNP EXD2 ENST00000492815 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors EXD2 HGNC ENSG00000081177 55 0 0.00 35 4 10.26 - - - F5 0 genome.wustl.edu 37 1 169483582 169483582 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 169483582 169483582 C G SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.6659 p.R2220P 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 67 0 0.00 66 9 12.00 - - - FAM65B 0 genome.wustl.edu 37 6 24836037 24836037 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 24836037 24836037 C T SNP FAM65B ENST00000259698 human ensembl 69_37n -1 known missense c.2165 p.G722E 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 106 0 0.00 112 17 13.18 - - - FCAR 0 genome.wustl.edu 37 19 55396826 55396826 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 55396826 55396826 G A SNP FCAR ENST00000355524 human ensembl 69_37n +1 known missense c.250 p.E84K 0.000 smart_Ig_sub smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 47 0 0.00 31 20 39.22 - - - FOSB 0 genome.wustl.edu 37 19 45976235 45976235 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 45976235 45976235 G A SNP FOSB ENST00000353609 human ensembl 69_37n +1 known missense c.982 p.D328N 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 53 0 0.00 64 14 17.95 - - - FOXP4 0 genome.wustl.edu 37 6 41557815 41557815 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 41557815 41557815 C G SNP FOXP4 ENST00000307972 human ensembl 69_37n +1 known missense c.1264 p.L422V 0.635 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 40 0 0.00 33 5 13.16 - - - FYB 0 genome.wustl.edu 37 5 39202503 39202503 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 5 39202503 39202503 A C SNP FYB ENST00000540520 human ensembl 69_37n -1 known missense c.590 p.L197R 0.001 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 37 0 0.00 31 11 26.19 - - - GABBR1 0 genome.wustl.edu 37 6 29588977 29588977 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 29588977 29588977 G A SNP GABBR1 ENST00000377034 human ensembl 69_37n -1 known silent c.1224 p.I408 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 49 0 0.00 56 13 18.84 - - - GABBR1 0 genome.wustl.edu 37 6 29589964 29589964 + Nonsense_Mutation SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 29589964 29589964 C A SNP GABBR1 ENST00000377034 human ensembl 69_37n -1 known nonsense c.982 p.E328* 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 56 0 0.00 49 20 28.99 - - - GALNT12 0 genome.wustl.edu 37 9 101594189 101594189 + Silent SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 9 101594189 101594189 A T SNP GALNT12 ENST00000375011 human ensembl 69_37n +1 known silent c.867 p.T289 0.021 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 43 0 0.00 31 14 31.11 - - - GAPVD1 0 genome.wustl.edu 37 9 128122822 128122822 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 9 128122822 128122822 G C SNP GAPVD1 ENST00000394105 human ensembl 69_37n +1 known missense c.4141 p.A1381P 1.000 pfscan_VPS9 pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 69 0 0.00 43 14 24.56 - - - GMEB2 0 genome.wustl.edu 37 20 62226998 62226998 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 20 62226998 62226998 G C SNP GMEB2 ENST00000266068 human ensembl 69_37n -1 known missense c.584 p.A195G 0.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 24 0 0.00 41 20 32.79 - - - GPR124 0 genome.wustl.edu 37 8 37686409 37686409 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 8 37686409 37686409 C G SNP GPR124 ENST00000412232 human ensembl 69_37n +1 known missense c.342 p.D114E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR124 HGNC ENSG00000020181 62 0 0.00 26 7 21.21 - - - HEATR4 0 genome.wustl.edu 37 14 73945253 73945253 + RNA SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 73945253 73945253 G T SNP HEATR4 ENST00000565094 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors HEATR4 HGNC ENSG00000187105 45 0 0.00 36 4 10.00 - - - HSD17B8 0 genome.wustl.edu 37 6 33172845 33172845 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 33172845 33172845 G A SNP HSD17B8 ENST00000374662 human ensembl 69_37n +1 known silent c.219 p.Q73 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH,prints_ADH_insect - no_errors HSD17B8 HGNC ENSG00000204228 13 0 0.00 24 6 20.00 - - - ITGAX 0 genome.wustl.edu 37 16 31373987 31373987 + Silent SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 16 31373987 31373987 C T SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known silent c.1272 p.A424 0.992 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 41 0 0.00 51 6 10.53 - - - ITGB7 0 genome.wustl.edu 37 12 53587587 53587587 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 12 53587587 53587587 C G SNP ITGB7 ENST00000267082 human ensembl 69_37n -1 known missense c.1407 p.E469D 0.861 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 30 0 0.00 25 6 19.35 - - - KAT7 0 genome.wustl.edu 37 17 47893207 47893207 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 17 47893207 47893207 G C SNP KAT7 ENST00000259021 human ensembl 69_37n +1 known missense c.895 p.E299Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 46 0 0.00 30 6 16.67 - - - KIF12 0 genome.wustl.edu 37 9 116860125 116860125 + RNA SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 9 116860125 116860125 C A SNP KIF12 ENST00000491059 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KIF12 HGNC ENSG00000136883 19 0 0.00 12 12 50.00 - - - KLK6 0 genome.wustl.edu 37 19 51470541 51470541 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 51470541 51470541 G A SNP KLK6 ENST00000310157 human ensembl 69_37n -1 known silent c.81 p.P27 0.149 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors KLK6 HGNC ENSG00000167755 45 0 0.00 36 16 30.77 - - - KRT222 0 genome.wustl.edu 37 17 38818225 38818227 + In_Frame_Del DEL CTT CTT - TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 17 38818225 38818227 CTT - DEL KRT222 ENST00000394052 human ensembl 69_37n -1 known in_frame_del c.168_166 p.K56in_frame_del 0.965:0.999:1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 52 0 0.00 81 10 10.99 - - - L1CAM 0 genome.wustl.edu 37 X 153133854 153133854 + Missense_Mutation SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed X 153133854 153133854 T G SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known missense c.1612 p.T538P 0.877 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 100 0 0.00 70 12 14.63 - - - LAMB4 0 genome.wustl.edu 37 7 107717415 107717415 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 107717415 107717415 C T SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.2098 p.A700T 0.001 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 28 0 0.00 25 4 13.79 - - - LARGE 0 genome.wustl.edu 37 22 33670434 33670434 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 22 33670434 33670434 G A SNP LARGE ENST00000354992 human ensembl 69_37n -1 known silent c.2250 p.L750 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 78 0 0.00 87 17 16.35 - - - LILRA1 0 genome.wustl.edu 37 19 55107704 55107704 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 55107704 55107704 G T SNP LILRA1 ENST00000251372 human ensembl 69_37n +1 known missense c.1009 p.A337S 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA1 HGNC ENSG00000104974 69 0 0.00 69 20 22.47 - - - LINC00665 0 genome.wustl.edu 37 19 36821306 36821306 + RNA SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 36821306 36821306 C G SNP LINC00665 ENST00000412740 human ensembl 69_37n -1 known rna NULL NULL 0.307 - - - no_errors LINC00665 HGNC ENSG00000232677 76 0 0.00 74 9 10.84 - - - LRIG2 0 genome.wustl.edu 37 1 113642885 113642885 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 113642885 113642885 C G SNP LRIG2 ENST00000361127 human ensembl 69_37n +1 known missense c.1225 p.L409V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 52 0 0.00 40 15 27.27 - - - LRRC33 0 genome.wustl.edu 37 3 196388546 196388546 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 3 196388546 196388546 C G SNP LRRC33 ENST00000328557 human ensembl 69_37n +1 known missense c.2032 p.L678V 0.783 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC33 HGNC ENSG00000174004 52 0 0.00 45 14 23.73 - - - MARC1 0 genome.wustl.edu 37 1 220970115 220970115 + Nonsense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 220970115 220970115 C G SNP MARC1 ENST00000407981 human ensembl 69_37n +1 putative nonsense c.305 p.S102* 0.000 superfamily_Pyrv_Knase-like_insert_dom pfam_MoCF_Sase_C,pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MARC1 HGNC ENSG00000186205 30 0 0.00 38 10 20.83 - - - MEP1B 0 genome.wustl.edu 37 18 29797730 29797730 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 18 29797730 29797730 G A SNP MEP1B ENST00000269202 human ensembl 69_37n +1 known silent c.1893 p.Q631 0.000 pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 53 0 0.00 20 14 41.18 - - - MIR3914-1 0 genome.wustl.edu 37 7 70772665 70772665 + RNA SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 70772665 70772665 C G SNP MIR3914-1 ENST00000584357 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR3914-1 HGNC ENSG00000265878 49 0 0.00 30 18 37.50 - - - MSLNL 0 genome.wustl.edu 37 16 824291 824291 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 16 824291 824291 G A SNP MSLNL ENST00000293892 human ensembl 69_37n -1 known missense c.1865 p.S622L 0.000 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 19 0 0.00 15 9 37.50 - - - MSTO1 0 genome.wustl.edu 37 1 155584255 155584255 + RNA SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 155584255 155584255 G C SNP MSTO1 ENST00000483734 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MSTO1 HGNC ENSG00000125459 14 0 0.00 16 8 33.33 - - - MUC5AC 0 genome.wustl.edu 37 11 1162114 1162114 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 11 1162114 1162114 G A SNP MUC5AC ENST00000534821 human ensembl 69_37n +1 known missense c.1705 p.G569S 0.999 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out - no_stop_codon:bad_bp_length_for_coding_region MUC5AC HGNC ENSG00000215182 68 0 0.00 42 8 16.00 - - - MYH2 0 genome.wustl.edu 37 17 10440751 10440751 + Missense_Mutation SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 17 10440751 10440751 A G SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known missense c.1696 p.F566L 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 67 0 0.00 47 10 17.54 - - - MYT1L 0 genome.wustl.edu 37 2 1820415 1820415 + RNA SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 1820415 1820415 G C SNP MYT1L ENST00000471668 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MYT1L HGNC ENSG00000186487 70 0 0.00 62 19 23.46 - - - NAA35 0 genome.wustl.edu 37 9 88581515 88581515 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 9 88581515 88581515 C T SNP NAA35 ENST00000416045 human ensembl 69_37n +1 known missense c.521 p.S174L 0.020 NULL pfam_NatC_AcTrfase_Mak10 - no_stop_codon:bad_bp_length_for_coding_region NAA35 HGNC ENSG00000135040 76 0 0.00 34 24 41.38 - - - NADK 0 genome.wustl.edu 37 1 1689962 1689962 + Silent SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 1689962 1689962 C T SNP NADK ENST00000342348 human ensembl 69_37n -1 known silent c.9 p.R3 0.001 NULL pfam_polyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 70 0 0.00 54 11 16.92 - - - NCOA5 0 genome.wustl.edu 37 20 44693855 44693855 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 20 44693855 44693855 C G SNP NCOA5 ENST00000290231 human ensembl 69_37n -1 known missense c.642 p.E214D 0.997 superfamily_Anticodon-bd superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 47 0 0.00 33 10 23.26 - - - NEB 0 genome.wustl.edu 37 2 152506758 152506758 + Nonsense_Mutation SNP T T A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 152506758 152506758 T A SNP NEB ENST00000397345 human ensembl 69_37n -1 known nonsense c.7363 p.K2455* 1.000 pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 43 0 0.00 41 10 19.61 - - - NFATC4 0 genome.wustl.edu 37 14 24847040 24847040 + RNA SNP T T A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 24847040 24847040 T A SNP NFATC4 ENST00000555821 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors NFATC4 HGNC ENSG00000100968 14 0 0.00 21 6 22.22 - - - NNMT 0 genome.wustl.edu 37 11 114168854 114168854 + Silent SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 11 114168854 114168854 C A SNP NNMT ENST00000299964 human ensembl 69_37n +1 known silent c.336 p.T112 0.808 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 93 0 0.00 48 10 17.24 - - - NPY2R 0 genome.wustl.edu 37 4 156136013 156136013 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 156136013 156136013 A C SNP NPY2R ENST00000329476 human ensembl 69_37n +1 known missense c.922 p.T308P 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_NPY2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors NPY2R HGNC ENSG00000185149 31 0 0.00 18 11 37.93 - - - NRG2 0 genome.wustl.edu 37 5 139422059 139422059 + Missense_Mutation SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 5 139422059 139422059 T G SNP NRG2 ENST00000545385 human ensembl 69_37n -1 known missense c.596 p.E199A 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like - no_errors NRG2 HGNC ENSG00000158458 51 0 0.00 54 20 27.03 - - - NUP62 0 genome.wustl.edu 37 19 50412334 50412334 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 50412334 50412334 G A SNP NUP62 ENST00000352066 human ensembl 69_37n -1 known missense c.731 p.T244I 0.654 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 128 0 0.00 156 30 16.13 - - - OR9Q1 0 genome.wustl.edu 37 11 57947558 57947558 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 11 57947558 57947558 C G SNP OR9Q1 ENST00000335397 human ensembl 69_37n +1 known missense c.642 p.I214M 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR9Q1 HGNC ENSG00000186509 42 0 0.00 25 7 21.88 - - - OTX2-AS1 0 genome.wustl.edu 37 14 57280105 57280105 + RNA SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 57280105 57280105 A T SNP OTX2-AS1 ENST00000534909 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors OTX2-AS1 HGNC ENSG00000248550 24 0 0.00 17 10 37.04 - - - P2RX2 0 genome.wustl.edu 37 12 133198228 133198228 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 12 133198228 133198228 C G SNP P2RX2 ENST00000343948 human ensembl 69_37n +1 known missense c.1164 p.I388M 1.000 prints_P2X2_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 62 0 0.00 32 4 11.11 - - - PCP2 0 genome.wustl.edu 37 19 7696678 7696678 + Missense_Mutation SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 7696678 7696678 C A SNP PCP2 ENST00000311069 human ensembl 69_37n -1 known missense c.308 p.R103L 1.000 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 49 0 0.00 50 15 23.08 - - - PCSK2 0 genome.wustl.edu 37 20 17446041 17446041 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 20 17446041 17446041 G A SNP PCSK2 ENST00000262545 human ensembl 69_37n +1 known missense c.1273 p.E425K 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 40 0 0.00 22 9 29.03 - - - PDS5B 0 genome.wustl.edu 37 13 33249987 33249987 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 33249987 33249987 G T SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.853 p.D285Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 70 0 0.00 30 11 26.83 - - - PIKFYVE 0 genome.wustl.edu 37 2 209180075 209180075 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 209180075 209180075 G T SNP PIKFYVE ENST00000264380 human ensembl 69_37n +1 known missense c.1985 p.R662L 1.000 pfam_Cpn60/TCP-1 pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 41 0 0.00 31 19 38.00 - - - PITRM1 0 genome.wustl.edu 37 10 3205939 3205939 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 10 3205939 3205939 G T SNP PITRM1 ENST00000380989 human ensembl 69_37n -1 known missense c.769 p.H257N 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd - no_errors PITRM1 HGNC ENSG00000107959 34 0 0.00 33 4 10.81 - - - PLA2R1 0 genome.wustl.edu 37 2 160798454 160798454 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 160798454 160798454 G A SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known silent c.4227 p.V1409 0.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 59 0 0.00 54 14 20.59 - - - PLEC 0 genome.wustl.edu 37 8 145049453 145049453 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 8 145049453 145049453 G A SNP PLEC ENST00000436759 human ensembl 69_37n -1 known silent c.85 p.L29 0.815 NULL pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 75 0 0.00 93 14 13.08 - - - PLXNB1 0 genome.wustl.edu 37 3 48454480 48454480 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 3 48454480 48454480 G A SNP PLXNB1 ENST00000296440 human ensembl 69_37n -1 known missense c.4634 p.T1545I 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 61 0 0.00 46 8 14.81 - - - POM121L9P 0 genome.wustl.edu 37 22 24648470 24648470 + RNA SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 22 24648470 24648470 A G SNP POM121L9P ENST00000414583 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 34 0 0.00 33 11 25.00 - - - PON3 0 genome.wustl.edu 37 7 94989421 94989421 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 94989421 94989421 A C SNP PON3 ENST00000265627 human ensembl 69_37n -1 known missense c.929 p.L310W 0.231 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 40 0 0.00 19 4 17.39 - - - PPRC1 0 genome.wustl.edu 37 10 103904474 103904474 + RNA SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 10 103904474 103904474 C T SNP PPRC1 ENST00000462933 human ensembl 69_37n +1 known rna NULL NULL 0.144 - - - no_errors PPRC1 HGNC ENSG00000148840 11 0 0.00 6 6 50.00 - - - PRPF40A 0 genome.wustl.edu 37 2 153573970 153573970 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 153573970 153573970 C G SNP PRPF40A ENST00000354363 human ensembl 69_37n -1 known missense c.6 p.Q2H 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRPF40A HGNC ENSG00000196504 39 0 0.00 41 6 12.77 - - - PSEN2 0 genome.wustl.edu 37 1 227069694 227069694 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 227069694 227069694 G A SNP PSEN2 ENST00000391872 human ensembl 69_37n +1 known missense c.185 p.R62H 0.959 NULL pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 59 0 0.00 66 13 16.46 - - - PSG8 0 genome.wustl.edu 37 19 43258545 43258545 + Missense_Mutation SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 43258545 43258545 A G SNP PSG8 ENST00000306511 human ensembl 69_37n -1 known missense c.1183 p.S395P 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG8 HGNC ENSG00000124467 165 0 0.00 128 36 21.95 - - - PSMB10 0 genome.wustl.edu 37 16 67970636 67970636 + Missense_Mutation SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 16 67970636 67970636 A G SNP PSMB10 ENST00000358514 human ensembl 69_37n -1 known missense c.17 p.L6P 0.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC ENSG00000205220 26 0 0.00 14 3 17.65 - - - RAF1 0 genome.wustl.edu 37 3 12626146 12626146 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 3 12626146 12626146 G A SNP RAF1 ENST00000442415 human ensembl 69_37n -1 known missense c.1874 p.S625F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 66 0 0.00 50 10 16.67 - - - RASSF2 0 genome.wustl.edu 37 20 4764893 4764893 + RNA SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 20 4764893 4764893 T G SNP RASSF2 ENST00000474232 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RASSF2 HGNC ENSG00000101265 52 0 0.00 22 15 40.54 - - - RNF148 0 genome.wustl.edu 37 7 122342418 122342418 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 122342418 122342418 G C SNP RNF148 ENST00000434824 human ensembl 69_37n -1 known missense c.387 p.I129M 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 80 0 0.00 52 19 26.76 - - - RPA4 0 genome.wustl.edu 37 X 96139695 96139695 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed X 96139695 96139695 G T SNP RPA4 ENST00000373040 human ensembl 69_37n +1 known missense c.386 p.G129V 0.003 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 35 0 0.00 22 5 18.52 - - - RPS6KL1 0 genome.wustl.edu 37 14 75386605 75386605 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 75386605 75386605 C G SNP RPS6KL1 ENST00000358328 human ensembl 69_37n -1 known missense c.333 p.E111D 0.997 pfam_MIT,smart_MIT pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KL1 HGNC ENSG00000198208 29 0 0.00 9 8 47.06 - - - SCARB1 0 genome.wustl.edu 37 12 125298822 125298822 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 12 125298822 125298822 G A SNP SCARB1 ENST00000415380 human ensembl 69_37n -1 known missense c.556 p.P186S 1.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 68 0 0.00 54 6 10.00 - - - SCN10A 0 genome.wustl.edu 37 3 38802827 38802827 + Missense_Mutation SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 3 38802827 38802827 C A SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.739 p.A247S 0.838 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 58 0 0.00 42 6 12.50 - - - SCUBE1 0 genome.wustl.edu 37 22 43634956 43634956 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 22 43634956 43634956 C T SNP SCUBE1 ENST00000449304 human ensembl 69_37n -1 known missense c.292 p.V98M 0.601 smart_EGF-like pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SCUBE1 HGNC ENSG00000159307 50 0 0.00 56 24 30.00 - - - SDC3 0 genome.wustl.edu 37 1 31347230 31347230 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 31347230 31347230 C T SNP SDC3 ENST00000339394 human ensembl 69_37n -1 known missense c.1076 p.G359D 1.000 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 62 0 0.00 36 18 33.33 - - - SEC24B 0 genome.wustl.edu 37 4 110454767 110454767 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 110454767 110454767 G T SNP SEC24B ENST00000265175 human ensembl 69_37n +1 known missense c.3514 p.G1172W 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 51 0 0.00 40 8 16.67 - - - SERINC2 0 genome.wustl.edu 37 1 31905815 31905815 + Silent SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 31905815 31905815 C T SNP SERINC2 ENST00000373710 human ensembl 69_37n +1 known silent c.1042 p.L348 0.990 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 50 0 0.00 28 10 26.32 - - - SIPA1L3 0 genome.wustl.edu 37 19 38689102 38689102 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 38689102 38689102 G A SNP SIPA1L3 ENST00000222345 human ensembl 69_37n +1 known silent c.4914 p.L1638 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 31 0 0.00 25 12 32.43 - - - SIRT1 0 genome.wustl.edu 37 10 69672314 69672314 + Missense_Mutation SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 10 69672314 69672314 G A SNP SIRT1 ENST00000212015 human ensembl 69_37n +1 known missense c.1441 p.D481N 1.000 pfscan_NAD-dep_deAcase_sirtuin pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT1 HGNC ENSG00000096717 37 0 0.00 19 4 17.39 - - - SKOR1 0 genome.wustl.edu 37 15 68114329 68114329 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 15 68114329 68114329 A C SNP SKOR1 ENST00000341418 human ensembl 69_37n +1 known missense c.91 p.K31Q 0.001 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 42 0 0.00 39 6 13.33 - - - SLC22A8 0 genome.wustl.edu 37 11 62763237 62763237 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 11 62763237 62763237 C T SNP SLC22A8 ENST00000336232 human ensembl 69_37n -1 known missense c.940 p.A314T 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 29 0 0.00 24 7 22.58 - - - SLITRK6 0 genome.wustl.edu 37 13 86369675 86369675 + Missense_Mutation SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 86369675 86369675 T G SNP SLITRK6 ENST00000400286 human ensembl 69_37n -1 known missense c.969 p.Q323H 0.494 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 79 0 0.00 58 7 10.77 - - - SMARCD2 0 genome.wustl.edu 37 17 61912805 61912805 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 17 61912805 61912805 C G SNP SMARCD2 ENST00000448276 human ensembl 69_37n -1 known missense c.690 p.W230C 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 44 0 0.00 23 3 11.54 - - - SMG5 0 genome.wustl.edu 37 1 156220862 156220862 + RNA SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 156220862 156220862 G T SNP SMG5 ENST00000476954 human ensembl 69_37n -1 putative rna NULL NULL 0.099 - - - no_errors SMG5 HGNC ENSG00000198952 16 0 0.00 23 11 32.35 - - - SMYD3 0 genome.wustl.edu 37 1 246490592 246490592 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 246490592 246490592 C G SNP SMYD3 ENST00000388985 human ensembl 69_37n -1 known missense c.442 p.V148L 0.931 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 56 0 0.00 56 10 15.15 - - - SNX21 0 genome.wustl.edu 37 20 44470669 44470669 + RNA SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 20 44470669 44470669 C T SNP SNX21 ENST00000344780 human ensembl 69_37n +1 known rna NULL NULL 0.041 - - - no_errors SNX21 HGNC ENSG00000124104 37 0 0.00 21 10 32.26 - - - SORCS2 0 genome.wustl.edu 37 4 7725558 7725558 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 7725558 7725558 G A SNP SORCS2 ENST00000507866 human ensembl 69_37n +1 known silent c.2559 p.R853 1.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 42 0 0.00 31 9 22.50 - - - SPTBN4 0 genome.wustl.edu 37 19 40978681 40978681 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 40978681 40978681 G A SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known silent c.153 p.R51 0.991 pirsf_Spectrin_bsu,superfamily_CH-domain 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 SPTBN4 HGNC ENSG00000160460 30 0 0.00 41 6 12.77 - - - SRSF12 0 genome.wustl.edu 37 6 89808454 89808454 + Nonsense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 89808454 89808454 G T SNP SRSF12 ENST00000452027 human ensembl 69_37n -1 known nonsense c.629 p.S210* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC ENSG00000154548 111 0 0.00 73 14 16.09 - - - STAG3L1 0 genome.wustl.edu 37 7 74991324 74991324 + RNA SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 74991324 74991324 T G SNP STAG3L1 ENST00000402225 human ensembl 69_37n +1 known rna NULL NULL 0.956 - - - no_errors STAG3L1 HGNC ENSG00000205583 11 0 0.00 2 2 50.00 - - - STK24 0 genome.wustl.edu 37 13 99114109 99114109 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 99114109 99114109 G C SNP STK24 ENST00000376547 human ensembl 69_37n -1 known missense c.1008 p.D336E 1.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK24 HGNC ENSG00000102572 77 0 0.00 26 35 57.38 - - - TAF4B 0 genome.wustl.edu 37 18 23865876 23865878 + In_Frame_Del DEL CCT CCT - TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 18 23865876 23865878 CCT - DEL TAF4B ENST00000269142 human ensembl 69_37n +1 known in_frame_del c.1003_1005 p.P335in_frame_del 1.000:1.000:0.932 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 64 0 0.00 39 5 11.36 - - - TGDS 0 genome.wustl.edu 37 13 95248285 95248285 + RNA SNP C C A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 95248285 95248285 C A SNP TGDS ENST00000498294 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors TGDS HGNC ENSG00000088451 38 0 0.00 44 5 10.20 - - - THEM5 0 genome.wustl.edu 37 1 151826027 151826027 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 151826027 151826027 G A SNP THEM5 ENST00000368817 human ensembl 69_37n -1 known silent c.15 p.C5 0.001 NULL pfam_Thioestr_supf - no_errors THEM5 HGNC ENSG00000196407 47 0 0.00 37 44 54.32 - - - TIMM17A 0 genome.wustl.edu 37 1 201926929 201926929 + RNA DEL T T - TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 201926929 201926929 T - DEL TIMM17A ENST00000484647 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TIMM17A HGNC ENSG00000134375 9 0 0.00 10 3 23.08 - - - TMCO3 0 genome.wustl.edu 37 13 114156090 114156090 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 114156090 114156090 G A SNP TMCO3 ENST00000434316 human ensembl 69_37n +1 known silent c.840 p.L280 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 86 0 0.00 98 19 16.24 - - - TMEM151B 0 genome.wustl.edu 37 6 44241109 44241109 + Missense_Mutation SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 44241109 44241109 A C SNP TMEM151B ENST00000451188 human ensembl 69_37n +1 known missense c.442 p.S148R 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 29 0 0.00 37 19 33.93 - - - TMEM165 0 genome.wustl.edu 37 4 56283243 56283243 + Silent SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 56283243 56283243 G A SNP TMEM165 ENST00000381334 human ensembl 69_37n +1 known silent c.438 p.L146 1.000 pfam_UPF0016 pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 36 0 0.00 36 5 12.20 - - - TMEM91 0 genome.wustl.edu 37 19 41889658 41889658 + Silent SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 41889658 41889658 A G SNP TMEM91 ENST00000392002 human ensembl 69_37n +1 known silent c.399 p.A133 0.994 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors TMEM91 HGNC ENSG00000142046 36 0 0.00 26 15 36.59 - - - TPRX1 0 genome.wustl.edu 37 19 48305574 48305574 + Missense_Mutation SNP A A G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 48305574 48305574 A G SNP TPRX1 ENST00000535759 human ensembl 69_37n -1 known missense c.985 p.S329P 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TPRX1 HGNC ENSG00000178928 85 0 0.00 125 23 15.44 - - - TPT1 0 genome.wustl.edu 37 13 45913711 45913711 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 13 45913711 45913711 C G SNP TPT1 ENST00000530705 human ensembl 69_37n -1 known missense c.320 p.R107T 0.999 pfam_Translational_control_tumour_p,superfamily_Mss4-like pfam_Translational_control_tumour_p,superfamily_Mss4-like,prints_Translational_control_tumour_p - no_errors TPT1 HGNC ENSG00000133112 32 0 0.00 28 5 15.15 - - - TRIML1 0 genome.wustl.edu 37 4 189068232 189068232 + Silent SNP A A C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 189068232 189068232 A C SNP TRIML1 ENST00000332517 human ensembl 69_37n +1 known silent c.1113 p.P371 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 52 0 0.00 48 8 14.29 - - - TSPAN16 0 genome.wustl.edu 37 19 11417278 11417278 + Splice_Site SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 11417278 11417278 A T SNP TSPAN16 ENST00000316737 human ensembl 69_37n +1 known splice_site c.451-2 e5-2 0.266 - - - no_errors TSPAN16 HGNC ENSG00000130167 113 0 0 55 36 39.56 - - - TSPAN16 0 genome.wustl.edu 37 19 11417278 11417278 + Splice_Site SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 11417278 11417278 A T SNP TSPAN16 ENST00000316737 human ensembl 69_37n +1 known splice_site c.451-2 e5-2 0.266 - - - no_errors TSPAN16 HGNC ENSG00000130167 113 0 0.00 55 36 39.56 - - - TTLL10-AS1 0 genome.wustl.edu 37 1 1111032 1111032 + RNA SNP G G A TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 1111032 1111032 G A SNP TTLL10-AS1 ENST00000379317 human ensembl 69_37n -1 known rna NULL NULL 0.064 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 70 0 0.00 71 16 18.39 - - - TTN 0 genome.wustl.edu 37 2 179399058 179399058 + Missense_Mutation SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 179399058 179399058 T G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.94580 p.H31527P 1.000 superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 40 0 0.00 20 5 20.00 - - - UBE2G2 0 genome.wustl.edu 37 21 46191243 46191243 + RNA SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 21 46191243 46191243 G C SNP UBE2G2 ENST00000477954 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 30 0 0.00 30 7 18.92 - - - UGT2A1 0 genome.wustl.edu 37 4 70512828 70512828 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 70512828 70512828 C T SNP UGT2A1 ENST00000503640 human ensembl 69_37n -1 known missense c.535 p.V179M 0.994 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 59 0 0.00 42 17 28.81 - - - UMODL1 0 genome.wustl.edu 37 21 43557583 43557583 + Silent SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 21 43557583 43557583 C T SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known silent c.4194 p.A1398 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 78 0 0.00 50 9 15.25 - - - USH2A 0 genome.wustl.edu 37 1 216424381 216424381 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 216424381 216424381 C G SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.2031 p.Q677H 0.985 pfam_EGF_laminin,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 33 0 0.00 35 7 16.67 - - - USP11 0 genome.wustl.edu 37 X 47098833 47098833 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed X 47098833 47098833 G T SNP USP11 ENST00000218348 human ensembl 69_37n +1 known missense c.499 p.V167F 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC ENSG00000102226 73 0 0.00 45 6 11.76 - - - VNN2 0 genome.wustl.edu 37 6 133078957 133078957 + Silent SNP A A T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 6 133078957 133078957 A T SNP VNN2 ENST00000326499 human ensembl 69_37n -1 known silent c.66 p.T22 0.000 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 29 0 0.00 30 4 11.76 - - - VSTM2A 0 genome.wustl.edu 37 7 54636793 54636793 + RNA DEL T T - TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 7 54636793 54636793 T - DEL VSTM2A ENST00000466888 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors VSTM2A HGNC ENSG00000170419 96 0 0.00 89 39 30.47 - - - WDFY3 0 genome.wustl.edu 37 4 85696135 85696135 + Splice_Site SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 4 85696135 85696135 C G SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known splice_site c.4593-1 e26-1 1.000 - - - no_errors WDFY3 HGNC ENSG00000163625 61 0 0.00 36 24 40.00 - - - WDR26 0 genome.wustl.edu 37 1 224581617 224581617 + Missense_Mutation SNP T T C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 224581617 224581617 T C SNP WDR26 ENST00000414423 human ensembl 69_37n -1 known missense c.1873 p.I625V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 50 0 0.00 44 15 25.42 - - - WDR64 0 genome.wustl.edu 37 1 241912945 241912945 + Missense_Mutation SNP T T G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 1 241912945 241912945 T G SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known missense c.1661 p.L554R 0.459 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 46 0 0.00 74 25 25.25 - - - XKR6 0 genome.wustl.edu 37 8 10782233 10782233 + Missense_Mutation SNP C C T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 8 10782233 10782233 C T SNP XKR6 ENST00000416569 human ensembl 69_37n -1 known missense c.872 p.R291H 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 71 0 0.00 41 6 12.77 - - - YLPM1 0 genome.wustl.edu 37 14 75245153 75245153 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 75245153 75245153 C G SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.877 p.Q293E 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 38 0 0.00 21 11 34.38 - - - YSK4 0 genome.wustl.edu 37 2 135741343 135741343 + Nonsense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 2 135741343 135741343 G C SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known nonsense c.3125 p.S1042* 0.848 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 YSK4 HGNC ENSG00000176601 33 0 0.00 33 7 17.50 - - - ZBED3-AS1 0 genome.wustl.edu 37 5 76442555 76442555 + RNA SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 5 76442555 76442555 G C SNP ZBED3-AS1 ENST00000515356 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZBED3-AS1 HGNC ENSG00000250802 16 0 0.00 14 5 26.32 - - - ZDHHC22 0 genome.wustl.edu 37 14 77605777 77605777 + Missense_Mutation SNP C C G TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 77605777 77605777 C G SNP ZDHHC22 ENST00000319374 human ensembl 69_37n -1 known missense c.305 p.R102T 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_SSD,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC22 HGNC ENSG00000177108 41 0 0.00 28 7 20.00 - - - ZFHX2 0 genome.wustl.edu 37 14 23995766 23995766 + Missense_Mutation SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 23995766 23995766 G C SNP ZFHX2 ENST00000419474 human ensembl 69_37n -1 known missense c.3385 p.P1129A 0.999 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 ZFHX2 HGNC ENSG00000136367 40 0 0.00 28 23 45.10 - - - ZFHX2 0 genome.wustl.edu 37 14 24003350 24003350 + Silent SNP G G C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 14 24003350 24003350 G C SNP ZFHX2 ENST00000419474 human ensembl 69_37n -1 known silent c.1185 p.T395 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 ZFHX2 HGNC ENSG00000136367 40 0 0.00 38 26 40.62 - - - ZNF468 0 genome.wustl.edu 37 19 53344462 53344462 + Missense_Mutation SNP T T C TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 21da489e-0eea-4cb5-9b50-98ce50c9a617 b7bae67a-42a2-4fe7-b469-ef0725971eed 19 53344462 53344462 T C SNP ZNF468 ENST00000243639 human ensembl 69_37n -1 known missense c.1085 p.K362R 0.936 pfam_Znf_C2H2,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 ZNF468 HGNC ENSG00000204604 51 0 0.00 37 5 11.90 - - -