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 AADAT 0 genome.wustl.edu 37 4 170991750 170991750 + Silent SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 4 170991750 170991750 G A SNP AADAT ENST00000509167 human ensembl 69_37n -1 known silent c.720 p.L240 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC ENSG00000109576 79 0 0.00 97 41 29.71 - - - ACSM2B 0 genome.wustl.edu 37 16 20576133 20576133 + Missense_Mutation SNP G G T TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 16 20576133 20576133 G T SNP ACSM2B ENST00000329697 human ensembl 69_37n -1 known missense c.35 p.T12N 0.002 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 170 0 0.00 147 69 31.94 - - - C1QTNF5 0 genome.wustl.edu 37 11 119213687 119213688 + Frame_Shift_Ins INS - - G TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 11 119213687 119213688 - G INS C1QTNF5 ENST00000449574 human ensembl 69_37n -1 known frame_shift_ins c.1151_1150 p.H384fs 0.000:0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt - no_errors MFRP Clone_based_vega_gene ENSG00000235718 15 0 0.00 7 3 30.00 - - - CADPS 0 genome.wustl.edu 37 3 62385241 62385241 + Missense_Mutation SNP C C T TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 3 62385241 62385241 C T SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.3902 p.R1301Q 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 115 0 0.00 126 65 34.03 - - - CCDC33 0 genome.wustl.edu 37 15 74622637 74622637 + Missense_Mutation SNP C C T TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 15 74622637 74622637 C T SNP CCDC33 ENST00000558659 human ensembl 69_37n +1 putative missense c.1039 p.P347S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC33 HGNC ENSG00000140481 57 0 0.00 48 22 30.99 - - - CELSR3 0 genome.wustl.edu 37 3 48699376 48699377 + Frame_Shift_Ins INS - - G TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 3 48699376 48699377 - G INS CELSR3 ENST00000544264 human ensembl 69_37n -1 known frame_shift_ins c.692_691 p.R231fs 0.100:0.055 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 17 0 0.00 18 2 10.00 - - - FRG1B 0 genome.wustl.edu 37 20 29612363 29612363 + RNA SNP G G C TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 20 29612363 29612363 G C SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 8 0 0.00 6 4 40.00 - - - HUWE1 0 genome.wustl.edu 37 X 53570824 53570824 + Missense_Mutation SNP C C T TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a X 53570824 53570824 C T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.11357 p.R3786Q 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 174 0 0.00 112 73 39.46 - - - HVCN1 0 genome.wustl.edu 37 12 111089194 111089194 + Missense_Mutation SNP T T G TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 12 111089194 111089194 T G SNP HVCN1 ENST00000242607 human ensembl 69_37n -1 known missense c.471 p.K157N 0.277 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 118 0 0.00 104 40 27.78 - - - MIR7-3HG 0 genome.wustl.edu 37 19 4772464 4772464 + RNA SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 19 4772464 4772464 G A SNP MIR7-3HG ENST00000588711 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MIR7-3HG HGNC ENSG00000176840 65 0 0.00 57 39 40.62 - - - MUC5B 0 genome.wustl.edu 37 11 1266503 1266503 + Missense_Mutation SNP C C A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 11 1266503 1266503 C A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8402 p.T2801N 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 12 0 0.00 30 10 25.00 - - - NCKAP1 0 genome.wustl.edu 37 2 183848015 183848015 + Missense_Mutation SNP T T C TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 2 183848015 183848015 T C SNP NCKAP1 ENST00000360982 human ensembl 69_37n -1 known missense c.1118 p.K373R 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 104 0 0.00 115 62 35.03 - - - NCOA2 0 genome.wustl.edu 37 8 71060629 71060629 + Silent SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 8 71060629 71060629 G A SNP NCOA2 ENST00000452400 human ensembl 69_37n -1 known silent c.2484 p.G828 0.974 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA2 HGNC ENSG00000140396 81 0 0.00 65 42 39.25 - - - NPHP4 0 genome.wustl.edu 37 1 5987774 5987774 + Missense_Mutation SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 1 5987774 5987774 G A SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known missense c.1376 p.T459M 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 85 0 0.00 79 40 33.06 - - - PMS2 0 genome.wustl.edu 37 7 6013049 6013049 + Missense_Mutation SNP C C G TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 7 6013049 6013049 C G SNP PMS2 ENST00000265849 human ensembl 69_37n -1 known missense c.2570 p.G857A 0.999 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 8 0 0.00 7 13 65.00 - - - PTCH1 0 genome.wustl.edu 37 9 98211487 98211487 + Missense_Mutation SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 9 98211487 98211487 G A SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.3668 p.S1223L 0.998 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 43 0 0.00 47 32 40.51 - - - RBM19 0 genome.wustl.edu 37 12 114352823 114352823 + Missense_Mutation SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 12 114352823 114352823 G A SNP RBM19 ENST00000261741 human ensembl 69_37n -1 known missense c.2509 p.R837W 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 78 0 0.00 56 25 30.86 - - - SIPA1L1 0 genome.wustl.edu 37 14 72138130 72138130 + Silent SNP A A G TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 14 72138130 72138130 A G SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known silent c.2550 p.G850 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 127 0 0.00 146 18 10.98 - - - SLC11A1 0 genome.wustl.edu 37 2 219249939 219249939 + Missense_Mutation SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 2 219249939 219249939 G A SNP SLC11A1 ENST00000233202 human ensembl 69_37n +1 known missense c.343 p.V115M 1.000 pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp - no_errors SLC11A1 HGNC ENSG00000018280 86 0 0.00 90 24 21.05 - - - SLC17A4 0 genome.wustl.edu 37 6 25769214 25769214 + Silent SNP T T C TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 6 25769214 25769214 T C SNP SLC17A4 ENST00000377905 human ensembl 69_37n +1 known silent c.93 p.G31 0.058 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 83 0 0.00 132 21 13.73 - - - SLC36A3 0 genome.wustl.edu 37 5 150682787 150682787 + Splice_Site SNP C C A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 5 150682787 150682787 C A SNP SLC36A3 ENST00000377713 human ensembl 69_37n -1 known splice_site c.128+1 e1+1 0.851 - - - no_errors SLC36A3 HGNC ENSG00000186334 55 0 0.00 51 30 36.59 - - - SRGAP3 0 genome.wustl.edu 37 3 9032490 9032490 + Frame_Shift_Del DEL G G - TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 3 9032490 9032490 G - DEL SRGAP3 ENST00000383836 human ensembl 69_37n -1 known frame_shift_del c.2592 p.R865fs 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 8 0 0.00 11 5 31.25 - - - STEAP3 0 genome.wustl.edu 37 2 120012348 120012348 + Missense_Mutation SNP C C T TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 2 120012348 120012348 C T SNP STEAP3 ENST00000393110 human ensembl 69_37n +1 known missense c.1139 p.T380M 0.905 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420 - no_errors STEAP3 HGNC ENSG00000115107 128 0 0.00 93 50 34.97 - - - SVEP1 0 genome.wustl.edu 37 9 113168951 113168951 + Missense_Mutation SNP G G C TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 9 113168951 113168951 G C SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.8929 p.P2977A 0.982 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 61 0 0.00 49 33 40.24 - - - TBC1D9B 0 genome.wustl.edu 37 5 179290808 179290809 + Frame_Shift_Ins INS - - C TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 5 179290808 179290809 - C INS TBC1D9B ENST00000356834 human ensembl 69_37n -1 known frame_shift_ins c.3393_3392 p.S1132fs 0.007:0.033 NULL 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 TBC1D9B HGNC ENSG00000197226 20 0 0.00 15 2 11.76 - - - TTC7A 0 genome.wustl.edu 37 2 47278894 47278894 + Missense_Mutation SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 2 47278894 47278894 G A SNP TTC7A ENST00000319190 human ensembl 69_37n +1 known missense c.2027 p.R676Q 0.024 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 22 0 0.00 3 6 66.67 - - - YSK4 0 genome.wustl.edu 37 2 135745540 135745540 + Missense_Mutation SNP C C T TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 2 135745540 135745540 C T SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known missense c.902 p.C301Y 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors YSK4 HGNC ENSG00000176601 96 0 0.00 97 53 35.33 - - - ZBTB11 0 genome.wustl.edu 37 3 101390741 101390742 + Frame_Shift_Ins INS - - G TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 3 101390741 101390742 - G INS ZBTB11 ENST00000461821 human ensembl 69_37n -1 putative frame_shift_ins c.627_626 p.Q209fs 0.001:0.002 NULL NULL - no_errors ZBTB11 HGNC ENSG00000066422 31 0 0.00 55 8 12.70 - - - ZNF331 0 genome.wustl.edu 37 19 54081068 54081068 + Silent SNP G G A TCGA-A2-A0ER-01A-21W-A050-09 TCGA-A2-A0ER-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 31ed187e-9bfe-4ca3-8cbb-10c1e0184331 2bc2fdaf-fb2f-4bfd-9e20-e20edff6633a 19 54081068 54081068 G A SNP ZNF331 ENST00000253144 human ensembl 69_37n +1 known silent c.1254 p.K418 0.897 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 76 0 0.00 69 19 21.59 - - -