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 ADCY7 0 genome.wustl.edu 37 16 50345963 50345963 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 16 50345963 50345963 G A SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.2465 p.R822H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 202 0 0.00 141 22 13.50 - - - ADRA1A 0 genome.wustl.edu 37 8 26623598 26623598 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 8 26623598 26623598 C A SNP ADRA1A ENST00000354550 human ensembl 69_37n -1 known missense c.1338 p.M446I 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 210 0 0.00 102 19 15.70 - - - AFF2 0 genome.wustl.edu 37 X 148037760 148037760 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 X 148037760 148037760 C A SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.2185 p.Q729K 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 89 0 0.00 64 27 29.35 - - - ANO5 0 genome.wustl.edu 37 11 22272388 22272388 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 11 22272388 22272388 C T SNP ANO5 ENST00000324559 human ensembl 69_37n +1 known missense c.1115 p.S372L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 474 0 0.00 276 77 21.75 - - - BCL9L 0 genome.wustl.edu 37 11 118772067 118772067 + Silent SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 11 118772067 118772067 C T SNP BCL9L ENST00000334801 human ensembl 69_37n -1 known silent c.2385 p.L795 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 169 0 0.00 95 24 20.17 - - - CCDC15 0 genome.wustl.edu 37 11 124856675 124856675 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 11 124856675 124856675 C T SNP CCDC15 ENST00000344762 human ensembl 69_37n +1 known missense c.791 p.S264L 0.011 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 112 0 0.00 69 11 13.75 - - - CCDC87 0 genome.wustl.edu 37 11 66358631 66358633 + In_Frame_Del DEL TCT TCT - TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 11 66358631 66358633 TCT - DEL CCDC87 ENST00000333861 human ensembl 69_37n -1 known in_frame_del c.1856_1854 p.E619in_frame_del 0.736:0.765:0.754 NULL pfam_Microtubule-assoc_MAP65_ASE1 - no_errors CCDC87 HGNC ENSG00000182791 184 0 0.00 120 27 18.37 - - - CLASRP 0 genome.wustl.edu 37 19 45574072 45574072 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 19 45574072 45574072 C T SNP CLASRP ENST00000221455 human ensembl 69_37n +1 known missense c.1994 p.S665F 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 191 0 0.00 153 24 13.56 - - - CROCC 0 genome.wustl.edu 37 1 17273343 17273343 + Missense_Mutation SNP G G C TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 17273343 17273343 G C SNP CROCC ENST00000375541 human ensembl 69_37n +1 known missense c.2371 p.E791Q 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 65 0 0.00 38 7 15.56 - - - CSF3R 0 genome.wustl.edu 37 1 36933504 36933504 + Missense_Mutation SNP G G C TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 36933504 36933504 G C SNP CSF3R ENST00000373103 human ensembl 69_37n -1 known missense c.1783 p.L595V 0.057 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 217 1 0.46 120 24 16.67 - - - CYP20A1 0 genome.wustl.edu 37 2 204116801 204116801 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 204116801 204116801 C T SNP CYP20A1 ENST00000356079 human ensembl 69_37n +1 known missense c.401 p.S134F 0.903 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 247 0 0.00 131 28 17.61 - - - DDX31 0 genome.wustl.edu 37 9 135537878 135537878 + Missense_Mutation SNP T T G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 9 135537878 135537878 T G SNP DDX31 ENST00000372159 human ensembl 69_37n -1 known missense c.595 p.I199L 0.001 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 DDX31 HGNC ENSG00000125485 478 0 0.00 257 46 15.18 - - - DHDDS 0 genome.wustl.edu 37 1 26784375 26784375 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 26784375 26784375 G A SNP DHDDS ENST00000416052 human ensembl 69_37n +1 putative missense c.265 p.E89K 1.000 pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHDDS HGNC ENSG00000117682 403 0 0.00 216 60 21.66 - - - DIS3 0 genome.wustl.edu 37 13 73348184 73348184 + Missense_Mutation SNP A A G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 13 73348184 73348184 A G SNP DIS3 ENST00000377767 human ensembl 69_37n -1 known missense c.1001 p.V334A 0.839 NULL pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R - no_errors DIS3 HGNC ENSG00000083520 151 0 0.00 100 31 23.66 - - - DNAH1 0 genome.wustl.edu 37 3 52396484 52396484 + Silent SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 52396484 52396484 C T SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known silent c.5061 p.Y1687 0.421 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 118 0 0.00 53 19 26.39 - - - DPP4 0 genome.wustl.edu 37 2 162890159 162890159 + Missense_Mutation SNP C C G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 162890159 162890159 C G SNP DPP4 ENST00000360534 human ensembl 69_37n -1 known missense c.779 p.G260A 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 140 0 0.00 98 28 22.22 - - - DUS3L 0 genome.wustl.edu 37 19 5787632 5787632 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 19 5787632 5787632 C A SNP DUS3L ENST00000309061 human ensembl 69_37n -1 known missense c.1180 p.V394F 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 152 0 0.00 77 23 23.00 - - - EPAS1 0 genome.wustl.edu 37 2 46574149 46574149 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 46574149 46574149 C T SNP EPAS1 ENST00000263734 human ensembl 69_37n +1 known missense c.164 p.S55F 1.000 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,prints_Nuc_translocat,pfscan_HLH_DNA-bd pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 146 0 0.00 73 17 18.89 - - - EXT2 0 genome.wustl.edu 37 11 44228348 44228348 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 11 44228348 44228348 C T SNP EXT2 ENST00000395673 human ensembl 69_37n +1 known missense c.1600 p.L534F 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 257 0 0.00 176 33 15.79 - - - FAT1 0 genome.wustl.edu 37 4 187519128 187519128 + Missense_Mutation SNP C C G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 4 187519128 187519128 C G SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.12255 p.Q4085H 1.000 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 44 0 0.00 29 6 17.14 - - - GRIN3A 0 genome.wustl.edu 37 9 104499768 104499768 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 9 104499768 104499768 G A SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.494 p.P165L 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 170 1 0.58 71 9 11.25 - - - GUCY1A2 0 genome.wustl.edu 37 11 106680934 106680934 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 11 106680934 106680934 G A SNP GUCY1A2 ENST00000282249 human ensembl 69_37n -1 known missense c.1477 p.L493F 1.000 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 296 0 0.00 203 45 18.15 - - - IL18R1 0 genome.wustl.edu 37 2 102988423 102988423 + Missense_Mutation SNP C C G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 102988423 102988423 C G SNP IL18R1 ENST00000233957 human ensembl 69_37n +1 known missense c.313 p.Q105E 0.000 smart_Ig_sub,prints_IL1_rcpt_I/II pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC ENSG00000115604 32 0 0.00 38 14 26.92 - - - IL28B 0 genome.wustl.edu 37 19 39734315 39734315 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 19 39734315 39734315 G A SNP IL28B ENST00000413851 human ensembl 69_37n -1 known missense c.548 p.T183M 0.000 NULL NULL - no_errors IL28B HGNC ENSG00000197110 274 0 0.00 104 25 19.23 - - - ITGB2 0 genome.wustl.edu 37 21 46319038 46319038 + Nonsense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 21 46319038 46319038 C A SNP ITGB2 ENST00000302347 human ensembl 69_37n -1 known nonsense c.937 p.E313* 0.996 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 246 0 0.00 97 26 21.14 - - - KIF15 0 genome.wustl.edu 37 3 44893829 44893829 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 44893829 44893829 G A SNP KIF15 ENST00000326047 human ensembl 69_37n +1 known missense c.4102 p.E1368K 0.989 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 146 1 0.68 99 19 16.10 - - - KIRREL 0 genome.wustl.edu 37 1 158058164 158058164 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 158058164 158058164 G A SNP KIRREL ENST00000368173 human ensembl 69_37n +1 known missense c.964 p.G322S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC ENSG00000183853 249 0 0.00 152 29 16.02 - - - LRR1 0 genome.wustl.edu 37 14 50065856 50065856 + Nonsense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 14 50065856 50065856 C T SNP LRR1 ENST00000298288 human ensembl 69_37n +1 known nonsense c.118 p.Q40* 0.009 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 50 0 0.00 33 8 19.51 - - - MAP3K13 0 genome.wustl.edu 37 3 185198193 185198193 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 185198193 185198193 C T SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known missense c.2675 p.T892M 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 127 0 0.00 77 15 16.30 - - - MBIP 0 genome.wustl.edu 37 14 36781172 36781172 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 14 36781172 36781172 G A SNP MBIP ENST00000553977 human ensembl 69_37n -1 putative missense c.619 p.R207C 0.996 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MBIP HGNC ENSG00000151332 59 0 0.00 34 9 20.93 - - - MTUS2 0 genome.wustl.edu 37 13 29933532 29933532 + Silent SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 13 29933532 29933532 C T SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known silent c.3069 p.G1023 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 33 0 0.00 30 8 20.51 - - - NEK5 0 genome.wustl.edu 37 13 52667302 52667302 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 13 52667302 52667302 C A SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known missense c.1096 p.D366Y 0.992 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 308 0 0.00 186 41 18.06 - - - NLRC5 0 genome.wustl.edu 37 16 57060870 57060870 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 16 57060870 57060870 G A SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.2015 p.C672Y 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 75 0 0.00 70 11 13.58 - - - NLRP2 0 genome.wustl.edu 37 19 55505775 55505775 + Missense_Mutation SNP G G C TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 19 55505775 55505775 G C SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known missense c.2847 p.L949F 0.021 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 362 0 0.00 177 35 16.51 - - - NRXN1 0 genome.wustl.edu 37 2 51254720 51254720 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 51254720 51254720 C T SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.692 p.G231E 1.000 smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 20 0 0.00 15 9 37.50 - - - NUCKS1 0 genome.wustl.edu 37 1 205689755 205689755 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 205689755 205689755 G A SNP NUCKS1 ENST00000367142 human ensembl 69_37n -1 known missense c.256 p.H86Y 1.000 NULL NULL - no_errors NUCKS1 HGNC ENSG00000069275 398 0 0.00 211 92 30.36 - - - NXNL2 0 genome.wustl.edu 37 9 91159324 91159324 + Silent SNP C C G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 9 91159324 91159324 C G SNP NXNL2 ENST00000375854 human ensembl 69_37n +1 known silent c.333 p.A111 0.998 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors NXNL2 HGNC ENSG00000130045 121 0 0.00 66 16 19.51 - - - PACS2 0 genome.wustl.edu 37 14 105843115 105843115 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 14 105843115 105843115 C T SNP PACS2 ENST00000458164 human ensembl 69_37n +1 known missense c.812 p.S271L 0.992 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 24 0 0.00 14 11 44.00 - - - PARK2 0 genome.wustl.edu 37 6 161969999 161969999 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 6 161969999 161969999 C A SNP PARK2 ENST00000366898 human ensembl 69_37n -1 known missense c.970 p.V324F 0.623 smart_Znf_C6HC,pirsf_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup - no_errors PARK2 HGNC ENSG00000185345 51 0 0.00 31 11 26.19 - - - PCDHA10 0 genome.wustl.edu 37 5 140236913 140236913 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 5 140236913 140236913 G A SNP PCDHA10 ENST00000307360 human ensembl 69_37n +1 known missense c.1280 p.R427Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 200 0 0.00 89 53 37.32 - - - PDYN 0 genome.wustl.edu 37 20 1961312 1961312 + Missense_Mutation SNP G G T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 20 1961312 1961312 G T SNP PDYN ENST00000217305 human ensembl 69_37n -1 known missense c.422 p.A141E 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 211 0 0.00 124 22 15.07 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 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 128 0 0.00 75 19 20.21 - - - PPP6R1 0 genome.wustl.edu 37 19 55743172 55743172 + Silent SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 19 55743172 55743172 G A SNP PPP6R1 ENST00000412770 human ensembl 69_37n -1 known silent c.2304 p.L768 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 48 0 0.00 27 9 25.00 - - - PRRC2B 0 genome.wustl.edu 37 9 134351790 134351790 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 9 134351790 134351790 G A SNP PRRC2B ENST00000357304 human ensembl 69_37n +1 known missense c.4274 p.R1425K 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 29 0 0.00 29 6 17.14 - - - RUVBL1 0 genome.wustl.edu 37 3 127816231 127816231 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 127816231 127816231 C T SNP RUVBL1 ENST00000322623 human ensembl 69_37n -1 known missense c.928 p.E310K 1.000 pfam_TIP49_C,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 321 1 0.31 162 30 15.62 - - - RYR3 0 genome.wustl.edu 37 15 34032055 34032055 + Missense_Mutation SNP G G C TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 15 34032055 34032055 G C SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.7679 p.R2560P 0.995 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 253 0 0.00 112 35 23.81 - - - SCAMP3 0 genome.wustl.edu 37 1 155228722 155228722 + Missense_Mutation SNP G G C TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 155228722 155228722 G C SNP SCAMP3 ENST00000302631 human ensembl 69_37n -1 known missense c.412 p.L138V 0.864 pfam_SCAMP pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 103 0 0.00 80 20 20.00 - - - SCN11A 0 genome.wustl.edu 37 3 38962717 38962717 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 38962717 38962717 G A SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known missense c.742 p.R248C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 106 0 0.00 72 13 15.29 - - - SPIN2B 0 genome.wustl.edu 37 X 57146372 57146372 + Missense_Mutation SNP G G C TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 X 57146372 57146372 G C SNP SPIN2B ENST00000275988 human ensembl 69_37n -1 known missense c.691 p.Q231E 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2B HGNC ENSG00000186787 339 0 0.00 205 42 17.00 - - - TBC1D9 0 genome.wustl.edu 37 4 141598222 141598222 + Nonsense_Mutation SNP G G T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 4 141598222 141598222 G T SNP TBC1D9 ENST00000442267 human ensembl 69_37n -1 known nonsense c.885 p.Y295* 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 241 0 0.00 126 35 21.74 - - - THBS2 0 genome.wustl.edu 37 6 169626349 169626349 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 6 169626349 169626349 C T SNP THBS2 ENST00000366787 human ensembl 69_37n -1 known missense c.2464 p.D822N 1.000 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 257 0 0.00 121 53 30.46 - - - TOPBP1 0 genome.wustl.edu 37 3 133335748 133335748 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 133335748 133335748 G A SNP TOPBP1 ENST00000260810 human ensembl 69_37n -1 known missense c.3781 p.H1261Y 0.000 pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 149 0 0.00 97 19 16.38 - - - TRAPPC8 0 genome.wustl.edu 37 18 29470718 29470718 + Nonsense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 18 29470718 29470718 G A SNP TRAPPC8 ENST00000283351 human ensembl 69_37n -1 known nonsense c.1708 p.R570* 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 249 0 0.00 152 32 17.39 - - - TTC5 0 genome.wustl.edu 37 14 20757805 20757805 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 14 20757805 20757805 G A SNP TTC5 ENST00000258821 human ensembl 69_37n -1 known missense c.1304 p.S435L 0.738 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC ENSG00000136319 141 0 0.00 53 11 17.19 - - - TTN 0 genome.wustl.edu 37 2 179471955 179471955 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 179471955 179471955 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.45670 p.G15224R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 278 0 0.00 165 43 20.67 - - - TTN 0 genome.wustl.edu 37 2 179615735 179615735 + Missense_Mutation SNP C C G TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 2 179615735 179615735 C G SNP TTN ENST00000360870 human ensembl 69_37n -1 known missense c.11392 p.D3798H 0.800 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 122 0 0.00 99 20 16.81 - - - UBN1 0 genome.wustl.edu 37 16 4923065 4923065 + Missense_Mutation SNP C C T TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 16 4923065 4923065 C T SNP UBN1 ENST00000586716 human ensembl 69_37n +1 novel missense c.170 p.S57L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBN1 HGNC ENSG00000118900 398 0 0.00 251 44 14.92 - - - WASH6P 0 genome.wustl.edu 37 X 155252868 155252868 + Silent SNP T T A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 X 155252868 155252868 T A SNP WASH6P ENST00000359512 human ensembl 69_37n +1 known silent c.912 p.P304 0.228 NULL pfam_WASH_WASD - no_errors WASH6P HGNC ENSG00000182484 14 0 0.00 7 5 41.67 - - - WDR63 0 genome.wustl.edu 37 1 85560164 85560164 + Missense_Mutation SNP C C A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 1 85560164 85560164 C A SNP WDR63 ENST00000294664 human ensembl 69_37n +1 known missense c.1099 p.H367N 0.072 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 396 0 0.00 167 57 25.45 - - - ZNF445 0 genome.wustl.edu 37 3 44489889 44489889 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 44489889 44489889 G A SNP ZNF445 ENST00000396077 human ensembl 69_37n -1 known missense c.1274 p.S425L 0.997 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 295 0 0.00 158 22 12.22 - - - ZNF621 0 genome.wustl.edu 37 3 40573701 40573701 + Missense_Mutation SNP G G A TCGA-BH-A0DX-01A-11D-A10Y-09 TCGA-BH-A0DX-10A-02D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bca403d9-48ff-4534-ba33-94b8fb9fee0f edc2ac11-3828-41d0-abf8-976ea7c5b348 3 40573701 40573701 G A SNP ZNF621 ENST00000339296 human ensembl 69_37n +1 known missense c.440 p.G147E 0.998 NULL 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 ZNF621 HGNC ENSG00000172888 105 0 0.00 76 13 14.61 - - -