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 ACAP2 0 genome.wustl.edu 37 3 195102673 195102673 + Nonsense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 3 195102673 195102673 G A SNP ACAP2 ENST00000326793 human ensembl 69_37n -1 known nonsense c.190 p.R64* 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 123 0 0.00 176 43 19.63 - - - ACO2 0 genome.wustl.edu 37 22 41921257 41921257 + Missense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 22 41921257 41921257 G A SNP ACO2 ENST00000216254 human ensembl 69_37n +1 known missense c.1666 p.V556M 1.000 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 40 0 0.00 27 7 20.59 - - - ACPP 0 genome.wustl.edu 37 3 132068766 132068766 + Missense_Mutation SNP G G T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 3 132068766 132068766 G T SNP ACPP ENST00000351273 human ensembl 69_37n +1 known missense c.784 p.V262F 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 85 0 0.00 118 20 14.49 - - - ACSL6 0 genome.wustl.edu 37 5 131325171 131325171 + Missense_Mutation SNP C C T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 5 131325171 131325171 C T SNP ACSL6 ENST00000296869 human ensembl 69_37n -1 known missense c.481 p.G161R 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 138 0 0.00 127 19 13.01 - - - BAZ2A 0 genome.wustl.edu 37 12 56998028 56998028 + Frame_Shift_Del DEL T T - TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 12 56998028 56998028 T - DEL BAZ2A ENST00000551812 human ensembl 69_37n -1 known frame_shift_del c.3017 p.K1006fs 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 20 0 0.00 30 4 11.43 - - - BRIX1 0 genome.wustl.edu 37 5 34924961 34924961 + Missense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 5 34924961 34924961 G A SNP BRIX1 ENST00000336767 human ensembl 69_37n +1 known missense c.673 p.E225K 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC ENSG00000113460 68 0 0.00 43 8 15.69 - - - BTBD1 0 genome.wustl.edu 37 15 83710634 83710634 + Silent SNP T T G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 15 83710634 83710634 T G SNP BTBD1 ENST00000261721 human ensembl 69_37n -1 known silent c.708 p.R236 1.000 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 130 0 0.00 139 34 19.65 - - - BTRC 0 genome.wustl.edu 37 10 103295203 103295203 + Silent SNP G G C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 10 103295203 103295203 G C SNP BTRC ENST00000370187 human ensembl 69_37n +1 known silent c.1440 p.V480 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 78 0 0.00 68 12 15.00 - - - C12orf50 0 genome.wustl.edu 37 12 88380150 88380150 + Silent SNP C C T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 12 88380150 88380150 C T SNP C12orf50 ENST00000298699 human ensembl 69_37n -1 known silent c.861 p.V287 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 195 0 0.00 104 49 32.03 - - - C20orf132 0 genome.wustl.edu 37 20 35748218 35748218 + Missense_Mutation SNP C C G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 20 35748218 35748218 C G SNP C20orf132 ENST00000400441 human ensembl 69_37n -1 known missense c.2253 p.K751N 0.943 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 208 0 0.00 173 36 17.22 - - - C5orf42 0 genome.wustl.edu 37 5 37179528 37179528 + Missense_Mutation SNP C C A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 5 37179528 37179528 C A SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.5755 p.V1919F 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 133 0 0.00 117 28 19.31 - - - CEP95 0 genome.wustl.edu 37 17 62517574 62517574 + Missense_Mutation SNP C C G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 17 62517574 62517574 C G SNP CEP95 ENST00000556440 human ensembl 69_37n +1 known missense c.644 p.S215C 0.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 47 0 0.00 92 11 10.68 - - - DOPEY2 0 genome.wustl.edu 37 21 37605126 37605126 + Missense_Mutation SNP C C G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 21 37605126 37605126 C G SNP DOPEY2 ENST00000399151 human ensembl 69_37n +1 known missense c.2375 p.S792C 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 53 0 0.00 182 24 11.65 - - - DOPEY2 0 genome.wustl.edu 37 21 37605200 37605200 + Missense_Mutation SNP C C G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 21 37605200 37605200 C G SNP DOPEY2 ENST00000399151 human ensembl 69_37n +1 known missense c.2449 p.L817V 0.763 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 66 0 0.00 193 29 13.06 - - - ESYT1 0 genome.wustl.edu 37 12 56527640 56527640 + Missense_Mutation SNP C C T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 12 56527640 56527640 C T SNP ESYT1 ENST00000267113 human ensembl 69_37n +1 known missense c.1456 p.R486W 0.451 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 108 0 0.00 127 16 11.19 - - - EXTL1 0 genome.wustl.edu 37 1 26361666 26361667 + Frame_Shift_Ins INS - - C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 1 26361666 26361667 - C INS EXTL1 ENST00000374280 human ensembl 69_37n +1 known frame_shift_ins c.1859_1860 p.P623fs 0.000:0.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 19 0 0.00 4 2 33.33 - - - FAM187B 0 genome.wustl.edu 37 19 35715792 35715792 + Missense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 19 35715792 35715792 G A SNP FAM187B ENST00000324675 human ensembl 69_37n -1 known missense c.1046 p.A349V 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 22 0 0.00 9 9 50.00 - - - FAM91A1 0 genome.wustl.edu 37 8 124798772 124798772 + Missense_Mutation SNP G G T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 8 124798772 124798772 G T SNP FAM91A1 ENST00000334705 human ensembl 69_37n +1 known missense c.1000 p.D334Y 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 242 0 0.00 538 61 10.17 - - - FREM1 0 genome.wustl.edu 37 9 14859403 14859403 + Missense_Mutation SNP T T C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 9 14859403 14859403 T C SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.409 p.M137V 0.908 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 495 0 0.00 358 47 11.60 - - - GFRA3 0 genome.wustl.edu 37 5 137599965 137599965 + Missense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 5 137599965 137599965 G A SNP GFRA3 ENST00000274721 human ensembl 69_37n -1 known missense c.364 p.R122C 0.843 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 71 0 0.00 119 16 11.85 - - - HOXA1 0 genome.wustl.edu 37 7 27134950 27134950 + Missense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 7 27134950 27134950 G A SNP HOXA1 ENST00000355633 human ensembl 69_37n -1 known missense c.379 p.R127C 0.950 NULL NULL - no_errors HOXA1 HGNC ENSG00000105991 54 0 0.00 42 18 30.00 - - - ITPR3 0 genome.wustl.edu 37 6 33639885 33639885 + Missense_Mutation SNP C C G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 6 33639885 33639885 C G SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.2808 p.F936L 0.920 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 15 0 0.00 12 10 45.45 - - - MGAT4A 0 genome.wustl.edu 37 2 99272904 99272904 + Silent SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 2 99272904 99272904 G A SNP MGAT4A ENST00000264968 human ensembl 69_37n -1 known silent c.609 p.G203 0.449 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 221 0 0.00 229 27 10.55 - - - MLL3 0 genome.wustl.edu 37 7 151891576 151891576 + Nonsense_Mutation SNP C C A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 7 151891576 151891576 C A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.4456 p.E1486* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 156 0 0.00 170 22 11.46 - - - NXF1 0 genome.wustl.edu 37 11 62562413 62562413 + Missense_Mutation SNP T T C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 11 62562413 62562413 T C SNP NXF1 ENST00000294172 human ensembl 69_37n -1 known missense c.1571 p.N524S 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 73 0 0.00 47 13 21.67 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 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 66 60 47.62 - - - PPP2R3C 0 genome.wustl.edu 37 14 35577392 35577392 + Missense_Mutation SNP T T C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 14 35577392 35577392 T C SNP PPP2R3C ENST00000261475 human ensembl 69_37n -1 known missense c.455 p.Y152C 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 76 0 0.00 46 47 50.54 - - - RAB4B 0 genome.wustl.edu 37 19 41286351 41286351 + Silent SNP T T A TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 19 41286351 41286351 T A SNP RAB4B ENST00000357052 human ensembl 69_37n +1 known silent c.159 p.G53 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4B HGNC ENSG00000167578 16 0 0.00 11 7 38.89 - - - RRAGD 0 genome.wustl.edu 37 6 90088968 90088968 + Missense_Mutation SNP T T C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 6 90088968 90088968 T C SNP RRAGD ENST00000369415 human ensembl 69_37n -1 known missense c.734 p.E245G 1.000 pfam_Gtr1_RagA pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su - no_errors RRAGD HGNC ENSG00000025039 94 0 0.00 65 32 32.65 - - - SCARA3 0 genome.wustl.edu 37 8 27528481 27528481 + Silent SNP C C T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 8 27528481 27528481 C T SNP SCARA3 ENST00000301904 human ensembl 69_37n +1 known silent c.1434 p.G478 0.002 pfam_Collagen pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 36 0 0.00 36 8 18.18 - - - SCN10A 0 genome.wustl.edu 37 3 38760181 38760181 + Missense_Mutation SNP G G C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 3 38760181 38760181 G C SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.3644 p.T1215S 1.000 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 147 0 0.00 130 86 39.63 - - - SLCO1B3 0 genome.wustl.edu 37 12 21030801 21030801 + Missense_Mutation SNP T T G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 12 21030801 21030801 T G SNP SLCO1B3 ENST00000553473 human ensembl 69_37n +1 known missense c.1066 p.F356V 0.032 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 158 0 0.00 156 37 19.07 - - - SPRR2D 0 genome.wustl.edu 37 1 153012797 153012797 + Missense_Mutation SNP T T C TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 1 153012797 153012797 T C SNP SPRR2D ENST00000360379 human ensembl 69_37n -1 known missense c.26 p.K9R 1.000 NULL NULL - no_errors SPRR2D HGNC ENSG00000163216 155 0 0.00 229 38 14.18 - - - TRAK2 0 genome.wustl.edu 37 2 202272210 202272210 + Missense_Mutation SNP C C G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 2 202272210 202272210 C G SNP TRAK2 ENST00000332624 human ensembl 69_37n -1 known missense c.202 p.D68H 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 146 0 0.00 128 18 12.33 - - - WDR67 0 genome.wustl.edu 37 8 124096492 124096494 + In_Frame_Del DEL CTT CTT - TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 8 124096492 124096494 CTT - DEL WDR67 ENST00000287380 human ensembl 69_37n +1 known in_frame_del c.431_433 p.S146in_frame_del 1.000:0.990:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 331 0 0.00 937 207 18.09 - - - ZNF710 0 genome.wustl.edu 37 15 90611696 90611696 + Frame_Shift_Del DEL T T - TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 15 90611696 90611696 T - DEL ZNF710 ENST00000268154 human ensembl 69_37n +1 known frame_shift_del c.1327 p.S443fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 76 0 0.00 71 41 36.28 - - - ZNF710 0 genome.wustl.edu 37 15 90611700 90611701 + Frame_Shift_Ins INS - - G TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 15 90611700 90611701 - G INS ZNF710 ENST00000268154 human ensembl 69_37n +1 known frame_shift_ins c.1331_1332 p.F444fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 77 0 0.00 75 44 36.97 - - - ZNF831 0 genome.wustl.edu 37 20 57768844 57768844 + Nonsense_Mutation SNP C C T TCGA-A8-A08P-01A-11W-A019-09 TCGA-A8-A08P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2fbe3da3-ce62-4edf-933b-367f983e221a fa1ecf1c-6e62-45b6-b4b0-dfc47067a6e0 20 57768844 57768844 C T SNP ZNF831 ENST00000371030 human ensembl 69_37n +1 novel nonsense c.2770 p.Q924* 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 22 0 0.00 22 7 23.33 - - -