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 ABCA13 0 genome.wustl.edu 37 7 48315435 48315435 + Missense_Mutation SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 7 48315435 48315435 C G SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.6172 p.L2058V 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 78 0 0.00 96 25 20.66 - - - AMBRA1 0 genome.wustl.edu 37 11 46419132 46419132 + Frame_Shift_Del DEL G G - TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 11 46419132 46419132 G - DEL AMBRA1 ENST00000458649 human ensembl 69_37n -1 known frame_shift_del c.3765 p.I1256fs 0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 111 0 0.00 127 46 25.84 - - - ANKRD17 0 genome.wustl.edu 37 4 74124127 74124127 + Missense_Mutation SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 4 74124127 74124127 C T SNP ANKRD17 ENST00000358602 human ensembl 69_37n -1 known missense c.259 p.E87K 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 90 0 0.00 28 24 46.15 - - - ARHGDIB 0 genome.wustl.edu 37 12 15095600 15095600 + Missense_Mutation SNP C C A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 15095600 15095600 C A SNP ARHGDIB ENST00000228945 human ensembl 69_37n -1 known missense c.462 p.E154D 1.000 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIB HGNC ENSG00000111348 87 0 0.00 51 13 20.31 - - - ARHGEF12 0 genome.wustl.edu 37 11 120352172 120352172 + Nonsense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 11 120352172 120352172 G T SNP ARHGEF12 ENST00000356641 human ensembl 69_37n +1 known nonsense c.4384 p.G1462* 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 115 0 0.00 92 48 34.29 - - - ATP2B4 0 genome.wustl.edu 37 1 203702418 203702418 + Missense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 203702418 203702418 G T SNP ATP2B4 ENST00000341360 human ensembl 69_37n +1 known missense c.3377 p.G1126V 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_ATP_Ca_trans_C,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 215 0 0.00 289 41 12.42 - - - ATRX 0 genome.wustl.edu 37 X 76949382 76949382 + Frame_Shift_Del DEL C C - TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b X 76949382 76949382 C - DEL ATRX ENST00000373344 human ensembl 69_37n -1 known frame_shift_del c.415 p.D139fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 537 0 0.00 320 70 17.33 - - - CACNA1A 0 genome.wustl.edu 37 19 13340904 13340904 + Frame_Shift_Del DEL G G - TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 13340904 13340904 G - DEL CACNA1A ENST00000360228 human ensembl 69_37n -1 known frame_shift_del c.5520 p.A1841fs 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 85 0 0.00 97 35 25.74 - - - CASC4 0 genome.wustl.edu 37 15 44630015 44630015 + Missense_Mutation SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 15 44630015 44630015 C G SNP CASC4 ENST00000299957 human ensembl 69_37n +1 known missense c.631 p.Q211E 0.981 NULL NULL - no_errors CASC4 HGNC ENSG00000166734 122 0 0.00 128 82 39.05 - - - CDK17 0 genome.wustl.edu 37 12 96728499 96728499 + Missense_Mutation SNP T T C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 96728499 96728499 T C SNP CDK17 ENST00000261211 human ensembl 69_37n -1 known missense c.116 p.N39S 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,pfscan_Prot_kinase_cat_dom - no_errors CDK17 HGNC ENSG00000059758 328 0 0.00 296 70 19.13 - - - CEP164 0 genome.wustl.edu 37 11 117263223 117263223 + Missense_Mutation SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 11 117263223 117263223 C G SNP CEP164 ENST00000278935 human ensembl 69_37n +1 known missense c.2373 p.S791R 0.922 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC ENSG00000110274 111 0 0.00 75 43 36.44 - - - COL1A1 0 genome.wustl.edu 37 17 48270012 48270012 + Missense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 17 48270012 48270012 G T SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known missense c.1918 p.P640T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 137 0 0.00 99 66 40.00 - - - COL5A2 0 genome.wustl.edu 37 2 189898939 189898939 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 189898939 189898939 G A SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.4357 p.R1453W 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 138 0 0.00 87 21 19.27 - - - CPAMD8 0 genome.wustl.edu 37 19 17015133 17015133 + Missense_Mutation SNP A A G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 17015133 17015133 A G SNP CPAMD8 ENST00000291440 human ensembl 69_37n -1 known missense c.4295 p.L1432P 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC ENSG00000160111 65 0 0.00 58 12 17.14 - - - CYB5R4 0 genome.wustl.edu 37 6 84574045 84574045 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 6 84574045 84574045 G C SNP CYB5R4 ENST00000369681 human ensembl 69_37n +1 known missense c.227 p.R76T 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,pfscan_Cyt_B5 pfam_Cyt_B5,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_domain,superfamily_Cyt_B5,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Cyt_B5,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5 - no_errors CYB5R4 HGNC ENSG00000065615 105 0 0.00 119 55 31.61 - - - CYHR1 0 genome.wustl.edu 37 8 145678614 145678614 + Missense_Mutation SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 8 145678614 145678614 C T SNP CYHR1 ENST00000438911 human ensembl 69_37n -1 known missense c.476 p.C159Y 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors CYHR1 HGNC ENSG00000187954 38 0 0.00 80 63 44.06 - - - DAPK1 0 genome.wustl.edu 37 9 90252867 90252867 + Silent SNP T T A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 9 90252867 90252867 T A SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known silent c.294 p.G98 0.994 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 196 0 0.00 98 32 24.62 - - - DDX27 0 genome.wustl.edu 37 20 47839853 47839853 + Nonsense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 20 47839853 47839853 G T SNP DDX27 ENST00000371764 human ensembl 69_37n +1 known nonsense c.442 p.E148* 0.004 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 76 0 0.00 130 71 35.15 - - - EDEM2 0 genome.wustl.edu 37 20 33711728 33711728 + Missense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 20 33711728 33711728 G T SNP EDEM2 ENST00000374492 human ensembl 69_37n -1 known missense c.1079 p.T360K 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 103 0 0.00 144 35 19.44 - - - FAM5C 0 genome.wustl.edu 37 1 190068153 190068153 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 190068153 190068153 C T SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known silent c.1296 p.Q432 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 31 0 0.00 40 5 11.11 - - - FASTKD2 0 genome.wustl.edu 37 2 207656516 207656516 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 207656516 207656516 G C SNP FASTKD2 ENST00000236980 human ensembl 69_37n +1 known missense c.2123 p.S708T 0.005 NULL pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 165 0 0.00 143 38 20.99 - - - FBXO17 0 genome.wustl.edu 37 19 39409429 39409429 + Missense_Mutation SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 39409429 39409429 C T SNP FBXO17 ENST00000430193 human ensembl 69_37n -1 known missense c.790 p.D264N 1.000 pirsf_Ser-tRNA-synth_IIa,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa pirsf_Ser-tRNA-synth_IIa,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa - no_errors FBXO17 HGNC ENSG00000104835 42 0 0.00 17 28 62.22 - - - GPR108 0 genome.wustl.edu 37 19 6731903 6731903 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 6731903 6731903 C T SNP GPR108 ENST00000264080 human ensembl 69_37n -1 known silent c.1299 p.K433 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 24 0 0.00 25 8 24.24 - - - H6PD 0 genome.wustl.edu 37 1 9322166 9322166 + Missense_Mutation SNP A A C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 9322166 9322166 A C SNP H6PD ENST00000377403 human ensembl 69_37n +1 known missense c.794 p.Q265P 1.000 pfam_G6P_DH_C,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 55 0 0.00 9 19 65.52 - - - HS3ST5 0 genome.wustl.edu 37 6 114378677 114378677 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 6 114378677 114378677 G A SNP HS3ST5 ENST00000312719 human ensembl 69_37n -1 known missense c.785 p.P262L 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC ENSG00000249853 258 0 0.00 179 81 31.15 - - - IGHG3 0 genome.wustl.edu 37 14 106237474 106237474 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 14 106237474 106237474 G C SNP IGHG3 ENST00000390551 human ensembl 69_37n -1 known missense c.269 p.A90G 0.199 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHG3 HGNC ENSG00000211897 347 0 0.00 277 37 11.78 - - - KIAA0195 0 genome.wustl.edu 37 17 73490986 73490987 + Frame_Shift_Ins INS - - A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 17 73490986 73490987 - A INS KIAA0195 ENST00000314256 human ensembl 69_37n +1 known frame_shift_ins c.2599_2600 p.M869fs 1.000:1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 27 0 0.00 14 18 56.25 - - - KIAA0232 0 genome.wustl.edu 37 4 6865167 6865167 + Missense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 4 6865167 6865167 G T SNP KIAA0232 ENST00000307659 human ensembl 69_37n +1 known missense c.3058 p.D1020Y 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 106 0 0.00 63 23 26.74 - - - KRT86 0 genome.wustl.edu 37 12 52700002 52700002 + Silent SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 52700002 52700002 C G SNP KRT86 ENST00000293525 human ensembl 69_37n +1 known silent c.1185 p.S395 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors AC021066.1 Clone_based_ensembl_gene ENSG00000170442 87 0 0.00 69 21 23.33 - - - LCP1 0 genome.wustl.edu 37 13 46701847 46701847 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 13 46701847 46701847 G A SNP LCP1 ENST00000323076 human ensembl 69_37n -1 known missense c.1763 p.S588F 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors LCP1 HGNC ENSG00000136167 135 0 0.00 96 46 32.39 - - - LRIG3 0 genome.wustl.edu 37 12 59271267 59271267 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 59271267 59271267 G C SNP LRIG3 ENST00000320743 human ensembl 69_37n -1 known missense c.2451 p.C817W 1.000 NULL 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 LRIG3 HGNC ENSG00000139263 113 0 0.00 116 58 33.33 - - - LRMP 0 genome.wustl.edu 37 12 25254214 25254214 + Missense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 25254214 25254214 G T SNP LRMP ENST00000354454 human ensembl 69_37n +1 known missense c.844 p.V282F 0.986 pfam_MRVI1 pfam_MRVI1 - no_errors LRMP HGNC ENSG00000118308 105 0 0.00 145 32 18.08 - - - MUC16 0 genome.wustl.edu 37 19 9057075 9057075 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 9057075 9057075 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.30371 p.S10124W 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 127 0 0.00 59 32 35.16 - - - MUC16 0 genome.wustl.edu 37 19 9064046 9064046 + Silent SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 9064046 9064046 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.23400 p.T7800 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 290 0 0.00 142 50 26.04 - - - MXD1 0 genome.wustl.edu 37 2 70165429 70165429 + RNA SNP T T G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 70165429 70165429 T G SNP MXD1 ENST00000465446 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors MXD1 HGNC ENSG00000059728 60 0 0.00 57 12 17.39 - - - MYO7B 0 genome.wustl.edu 37 2 128386057 128386057 + Missense_Mutation SNP G G T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 128386057 128386057 G T SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.4493 p.G1498V 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 25 0 0.00 34 9 20.93 - - - NCKAP1L 0 genome.wustl.edu 37 12 54917613 54917613 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 54917613 54917613 G A SNP NCKAP1L ENST00000293373 human ensembl 69_37n +1 known missense c.2029 p.D677N 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 142 0 0.00 106 28 20.74 - - - NCSTN 0 genome.wustl.edu 37 1 160327968 160327968 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 160327968 160327968 C T SNP NCSTN ENST00000294785 human ensembl 69_37n +1 known silent c.2037 p.I679 1.000 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 155 0 0.00 106 21 16.54 - - - NFU1 0 genome.wustl.edu 37 2 69642366 69642366 + Silent SNP A A G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 69642366 69642366 A G SNP NFU1 ENST00000410022 human ensembl 69_37n -1 known silent c.435 p.F145 1.000 pfam_NIF_FeS_clus_asmbl_NifU-like_N,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5 pfam_NIF_FeS_clus_asmbl_NifU-like_N,pfam_NIF_FeS_clus_asmbl_NifU_C,superfamily_NIF_FeS_clus_asmbl_NifU-like_N,smart_NIF_FeS_clus_asmbl_NifU-like_N,pirsf_HIRA-interacting_protein_5 - no_errors NFU1 HGNC ENSG00000169599 170 0 0.00 205 37 15.29 - - - NRP1 0 genome.wustl.edu 37 10 33502337 33502337 + Missense_Mutation SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 10 33502337 33502337 C T SNP NRP1 ENST00000265371 human ensembl 69_37n -1 known missense c.1591 p.D531N 1.000 pirsf_Neuropilin,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 pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 109 0 0.00 70 27 27.55 - - - NRP1 0 genome.wustl.edu 37 10 33545247 33545247 + Nonsense_Mutation SNP C C A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 10 33545247 33545247 C A SNP NRP1 ENST00000265371 human ensembl 69_37n -1 known nonsense c.811 p.E271* 1.000 pirsf_Neuropilin pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 92 0 0.00 81 36 30.77 - - - NT5E 0 genome.wustl.edu 37 6 86201757 86201757 + Missense_Mutation SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 6 86201757 86201757 C G SNP NT5E ENST00000257770 human ensembl 69_37n +1 known missense c.1423 p.L475V 0.999 pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 180 0 0.00 115 41 26.28 - - - PCLO 0 genome.wustl.edu 37 7 82582602 82582602 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 7 82582602 82582602 G A SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.7667 p.S2556F 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 122 0 0.00 55 51 47.66 - - - PDE6C 0 genome.wustl.edu 37 10 95422824 95422824 + Missense_Mutation SNP A A T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 10 95422824 95422824 A T SNP PDE6C ENST00000371447 human ensembl 69_37n +1 known missense c.2407 p.S803C 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 154 0 0.00 245 51 17.23 - - - PIK3CA 0 genome.wustl.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 3 178928079 178928079 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1357 p.E453K 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 192 0 0.00 205 108 34.50 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 139 0 0.00 135 72 34.78 - - - PITRM1 0 genome.wustl.edu 37 10 3181215 3181215 + Missense_Mutation SNP T T A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 10 3181215 3181215 T A SNP PITRM1 ENST00000380989 human ensembl 69_37n -1 known missense c.2801 p.Q934L 0.120 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 145 0 0.00 50 80 61.54 - - - PRAMEF2 0 genome.wustl.edu 37 1 12921147 12921147 + Missense_Mutation SNP T T C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 12921147 12921147 T C SNP PRAMEF2 ENST00000240189 human ensembl 69_37n +1 known missense c.938 p.L313P 0.029 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 152 0 0.00 126 35 21.74 - - - RBBP6 0 genome.wustl.edu 37 16 24582488 24582488 + Missense_Mutation SNP T T G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 16 24582488 24582488 T G SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known missense c.4101 p.S1367R 0.047 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 32 0 0.00 63 30 32.26 - - - RGS20 0 genome.wustl.edu 37 8 54866817 54866817 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 8 54866817 54866817 G C SNP RGS20 ENST00000297313 human ensembl 69_37n +1 known missense c.925 p.E309Q 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS20 HGNC ENSG00000147509 39 0 0.00 116 18 13.43 - - - RGS4 0 genome.wustl.edu 37 1 163043400 163043400 + Missense_Mutation SNP G G C TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 163043400 163043400 G C SNP RGS4 ENST00000421743 human ensembl 69_37n +1 known missense c.657 p.Q219H 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC ENSG00000117152 145 0 0.00 126 34 20.99 - - - RNF38 0 genome.wustl.edu 37 9 36344831 36344831 + Silent SNP A A G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 9 36344831 36344831 A G SNP RNF38 ENST00000259605 human ensembl 69_37n -1 known silent c.1383 p.T461 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 213 0 0.00 152 49 24.38 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404918 61404918 + RNA SNP A A T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 11 61404918 61404918 A T SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 31 0 0.00 42 6 12.50 - - - RUNX2 0 genome.wustl.edu 37 6 45513000 45513000 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 6 45513000 45513000 C T SNP RUNX2 ENST00000352853 human ensembl 69_37n +1 known silent c.1272 p.L424 1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 75 0 0.00 42 24 36.36 - - - SBF2 0 genome.wustl.edu 37 11 10014057 10014057 + Missense_Mutation SNP T T G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 11 10014057 10014057 T G SNP SBF2 ENST00000256190 human ensembl 69_37n -1 known missense c.1201 p.N401H 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 127 0 0.00 97 50 34.01 - - - SDK2 0 genome.wustl.edu 37 17 71410870 71410870 + Silent SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 17 71410870 71410870 G A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known silent c.2397 p.H799 0.682 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 86 0 0.00 95 20 17.39 - - - SEMA4F 0 genome.wustl.edu 37 2 74902498 74902498 + Silent SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 74902498 74902498 C G SNP SEMA4F ENST00000357877 human ensembl 69_37n +1 known silent c.1359 p.L453 0.995 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4F HGNC ENSG00000135622 83 0 0.00 79 31 28.18 - - - SF3B1 0 genome.wustl.edu 37 2 198274677 198274677 + Nonsense_Mutation SNP C C A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 2 198274677 198274677 C A SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known nonsense c.721 p.G241* 1.000 NULL pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 222 0 0.00 205 26 11.26 - - - SHC3 0 genome.wustl.edu 37 9 91660705 91660705 + Missense_Mutation SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 9 91660705 91660705 C T SNP SHC3 ENST00000375835 human ensembl 69_37n -1 known missense c.1157 p.G386E 1.000 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 349 0 0.00 190 79 29.37 - - - SHROOM2 0 genome.wustl.edu 37 X 9863794 9863794 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b X 9863794 9863794 G A SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.1846 p.V616M 0.007 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 11 0 0.00 18 7 28.00 - - - SIGLEC16 0 genome.wustl.edu 37 19 50474185 50474185 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 19 50474185 50474185 C T SNP SIGLEC16 ENST00000417280 human ensembl 69_37n +1 known silent c.750 p.A250 0.070 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_stop_codon SIGLEC16 HGNC ENSG00000161643 8 0 0.00 5 7 58.33 - - - SLC5A4 0 genome.wustl.edu 37 22 32631034 32631034 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 22 32631034 32631034 C T SNP SLC5A4 ENST00000266086 human ensembl 69_37n -1 known silent c.711 p.V237 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 136 0 0.00 53 56 51.38 - - - SMC2 0 genome.wustl.edu 37 9 106887243 106887243 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 9 106887243 106887243 G A SNP SMC2 ENST00000286398 human ensembl 69_37n +1 known missense c.2308 p.E770K 1.000 NULL pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 73 0 0.00 79 56 41.48 - - - STAT6 0 genome.wustl.edu 37 12 57500358 57500358 + Silent SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 12 57500358 57500358 G A SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known silent c.484 p.L162 0.984 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 273 0 0.00 120 60 33.33 - - - STOML2 0 genome.wustl.edu 37 9 35101259 35101259 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 9 35101259 35101259 C T SNP STOML2 ENST00000356493 human ensembl 69_37n -1 known silent c.597 p.R199 1.000 pfam_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 119 0 0.00 78 27 25.71 - - - SYCP2L 0 genome.wustl.edu 37 6 10926595 10926595 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 6 10926595 10926595 C T SNP SYCP2L ENST00000283141 human ensembl 69_37n +1 known silent c.1242 p.I414 0.000 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 139 0 0.00 159 37 18.69 - - - TMEM70 0 genome.wustl.edu 37 8 74893669 74893669 + Missense_Mutation SNP A A G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 8 74893669 74893669 A G SNP TMEM70 ENST00000312184 human ensembl 69_37n +1 known missense c.596 p.D199G 1.000 pfam_DUF1301_TMEM70 pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 141 0 0.00 203 24 10.57 - - - TMEM74 0 genome.wustl.edu 37 8 109796543 109796543 + Missense_Mutation SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 8 109796543 109796543 C T SNP TMEM74 ENST00000297459 human ensembl 69_37n -1 known missense c.785 p.R262Q 0.978 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 142 0 0.00 291 43 12.84 - - - TP53 0 genome.wustl.edu 37 17 7578370 7578370 + Splice_Site SNP C C A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 17 7578370 7578370 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.559+1 e4+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 82 0 0.00 29 39 57.35 - - - TRPC3 0 genome.wustl.edu 37 4 122853549 122853549 + Silent SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 4 122853549 122853549 G A SNP TRPC3 ENST00000379645 human ensembl 69_37n -1 known silent c.864 p.I288 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 39 0 0.00 10 26 70.27 - - - WDR93 0 genome.wustl.edu 37 15 90258281 90258281 + Silent SNP C C T TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 15 90258281 90258281 C T SNP WDR93 ENST00000268130 human ensembl 69_37n +1 known silent c.711 p.P237 0.014 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 184 0 0.00 210 32 13.22 - - - YTHDF3 0 genome.wustl.edu 37 8 64099880 64099880 + RNA SNP C C G TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 8 64099880 64099880 C G SNP YTHDF3 ENST00000339066 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 196 0 0.00 231 36 13.48 - - - ZNF434 0 genome.wustl.edu 37 16 3432953 3432953 + Missense_Mutation SNP G G A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 16 3432953 3432953 G A SNP ZNF434 ENST00000396846 human ensembl 69_37n -1 known missense c.1993 p.H665Y 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ENSG00000140987 209 0 0.00 145 65 30.95 - - - ZNF642 0 genome.wustl.edu 37 1 40947462 40947462 + Missense_Mutation SNP T T A TCGA-A8-A075-01A-11D-A099-09 TCGA-A8-A075-10B-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 085dd125-1f95-46aa-a480-2965090e8591 d67faef9-d467-4476-bbe9-181225c15e7b 1 40947462 40947462 T A SNP ZNF642 ENST00000372705 human ensembl 69_37n +1 known missense c.155 p.V52E 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF642 HGNC ENSG00000187815 100 0 0.00 48 41 45.56 - - -