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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val MT-ND5 0 genome.wustl.edu 37 MT 13753 13753 + Missense_Mutation SNP T T C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 MT 13753 13753 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 1 known missense c.1417 p.S473P NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 0 no_errors 0 0 0 16 0 0 2 8 80 3 0 0.00 1 5 83.33 COL11A1 0 genome.wustl.edu 37 1 103540214 103540214 + Missense_Mutation SNP G G A TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 1 103540214 103540214 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.611 p.T204M 0.991 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C 0 no_errors rs199595073 G->A 0.9998,0.0001997 78 0 0 58 9 13.43 358 0 0.00 248 22 8.15 PKLR 0 genome.wustl.edu 37 1 155265093 155265093 + Missense_Mutation SNP C C T TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 1 155265093 155265093 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.508 p.G170S 1 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase 0 no_errors 0 0 0 74 1 1.33 85 14 14.14 57 0 0.00 79 6 7.06 PCDHGB1 0 genome.wustl.edu 37 5 140730598 140730598 + Silent SNP C C T TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 5 140730598 140730598 C T SNP PCDHGB1 ENST00000523390 human ensembl 74_37 1 known silent c.771 p.S257 0 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin 0 no_errors 0 0 0 44 0 0 58 6 9.23 240 0 0.00 212 21 9.01 CNKSR3 0 genome.wustl.edu 37 6 154763352 154763352 + Missense_Mutation SNP T T C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 6 154763352 154763352 T C SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known missense c.289 p.N97D 1 pfam_CRIC_domain_Chordata pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM 0 no_errors 0 0 0 69 0 0 100 12 10.71 204 0 0.00 208 27 11.49 PEG10 0 genome.wustl.edu 37 7 94293816 94293816 + Silent SNP G G A TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 7 94293816 94293816 G A SNP PEG10 ENST00000482108 human ensembl 74_37 1 known silent c.948 p.S316 0.972 superfamily_Znf_CCHC pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC 0 no_errors 0 0 0 66 0 0 69 8 10.39 113 0 0.00 102 7 6.42 KAT6A 0 genome.wustl.edu 37 8 41791074 41791074 + Missense_Mutation SNP C C T TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 8 41791074 41791074 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.4664 p.S1555N 1 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger 0 no_errors 0 0 0 32 0 0 44 4 8.33 107 0 0.00 98 7 6.67 NRAP 0 genome.wustl.edu 37 10 115374703 115374703 + Silent SNP C C T TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 10 115374703 115374703 C T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known silent c.3105 p.T1035 0.001 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin 0 no_errors rs372300454 C->T 0 52 0 0 58 11 15.94 171 0 0.00 142 13 8.39 FAM111B 0 genome.wustl.edu 37 11 58893330 58893330 + Missense_Mutation SNP T T C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 11 58893330 58893330 T C SNP FAM111B ENST00000343597 human ensembl 74_37 1 known missense c.1760 p.I587T 0.013 superfamily_Trypsin-like_Pept_dom superfamily_Trypsin-like_Pept_dom 0 no_errors 0 0 0 59 0 0 56 8 12.5 242 0 0.00 236 28 10.61 TIMELESS 0 genome.wustl.edu 37 12 56817404 56817404 + Nonsense_Mutation SNP G G T TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 12 56817404 56817404 G T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known nonsense c.2054 p.S685* 0.969 NULL pfam_TIMELESS_C,pfam_Timeless 0 no_errors 0 0 0 23 0 0 32 3 8.57 154 0 0.00 165 19 10.33 CCDC43 0 genome.wustl.edu 37 17 42756399 42756399 + Missense_Mutation SNP T T C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 17 42756399 42756399 T C SNP CCDC43 ENST00000315286 human ensembl 74_37 -1 known missense c.500 p.N167S 1 NULL NULL 0 no_errors 0 0 0 47 0 0 50 8 13.79 287 0 0.00 276 22 7.33 LGALS3BP 0 genome.wustl.edu 37 17 76969290 76969290 + Missense_Mutation SNP G G C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 17 76969290 76969290 G C SNP LGALS3BP ENST00000262776 human ensembl 74_37 -1 known missense c.391 p.H131D 0.039 superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR 0 no_errors 0 0 0 37 0 0 37 5 11.9 103 0 0.00 104 10 8.77 GPS1 0 genome.wustl.edu 37 17 80012657 80012657 + Missense_Mutation SNP G G A TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 17 80012657 80012657 G A SNP GPS1 ENST00000355130 human ensembl 74_37 1 known missense c.700 p.V234I 1 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom 0 no_errors rs149095451 G->A 0.9998,0.0001997 36 0 0 32 5 13.51 134 0 0.00 129 17 11.64 GATAD2A 0 genome.wustl.edu 37 19 19613159 19613159 + Missense_Mutation SNP G G T TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 19 19613159 19613159 G T SNP GATAD2A ENST00000358713 human ensembl 74_37 1 known missense c.1595 p.R532L 1 NULL pfam_Znf_GATA,pfscan_Znf_GATA 0 no_errors 0 0 0 49 0 0 61 5 7.58 44 0 0.00 76 7 8.43 MT-RNR2 0 genome.wustl.edu 37 MT 2778 2778 + RNA SNP T T C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 MT 2778 2778 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 1 known rna NULL NULL NULL 0 0 0 no_errors 0 0 0 400 1 0.25 299 48 13.83 0 0 0.00 0 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102304673 102304673 + RNA SNP T T C TCGA-XU-A92Y-01A-11D-A423-09 TCGA-XU-A92Y-10A-01D-A426-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d5cdc7f7-9e87-45b5-a91b-4a2cfa9fd9e8 52477ee5-459e-424e-9f5a-7d9aa1216d21 15 102304673 102304673 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 1 known rna NULL NULL 0.999 0 0 0 no_errors rs200623579 T->C 0 21 0 0 15 4 21.05 3 0 0.00 1 0 0.00