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 13121 13121 + Missense_Mutation SNP G G A TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 MT 13121 13121 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 1 known missense c.785 p.R262H NULL pfam_NADH_UbQ/plastoQ_OxRdtase,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 47 0 0 6 3 33.33 1 0 0.00 0 3 100.00 ZMYM3 0 genome.wustl.edu 37 X 70468142 70468142 + Nonsense_Mutation SNP G G T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 X 70468142 70468142 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known nonsense c.1851 p.C617* 1 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom 0 no_errors 0 0 0 26 0 0 8 10 55.56 103 0 0.00 62 39 38.24 FRAS1 0 genome.wustl.edu 37 4 79188536 79188536 + Missense_Mutation SNP G G C TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 4 79188536 79188536 G C SNP FRAS1 ENST00000264895 human ensembl 74_37 1 known missense c.931 p.G311R 1 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C 0 no_errors 0 0 0 65 0 0 53 14 20.9 163 0 0.00 117 34 22.52 ACN9 0 genome.wustl.edu 37 7 96747041 96747041 + Silent SNP G G A TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 7 96747041 96747041 G A SNP ACN9 ENST00000432641 human ensembl 74_37 1 known silent c.6 p.P2 0.082 NULL pfam_Complex1_LYR 0 no_errors rs566561181 G->A 0.9998,0.0001997 28 0 0 33 10 23.26 130 0 0.00 118 39 24.84 STAU2 0 genome.wustl.edu 37 8 74333642 74333642 + Missense_Mutation SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 8 74333642 74333642 C T SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known missense c.1678 p.A560T 0.978 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom 0 no_errors 0 0 0 45 0 0 52 13 20 209 1 0.48 193 46 19.25 ANK3 0 genome.wustl.edu 37 10 61932688 61932688 + Silent SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 10 61932688 61932688 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.2352 p.Q784 1 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt 0 no_errors 0 0 0 50 0 0 46 8 14.81 185 0 0.00 172 24 12.24 HNRNPKP3 0 genome.wustl.edu 37 11 43283299 43283299 + RNA SNP A A G TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 11 43283299 43283299 A G SNP HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.003 0 0 0 no_errors 0 0 0 17 0 0 13 6 31.58 171 0 0.00 180 28 13.40 ALG9 0 genome.wustl.edu 37 11 111708233 111708233 + Missense_Mutation SNP T T C TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 11 111708233 111708233 T C SNP ALG9 ENST00000531154 human ensembl 74_37 -1 known missense c.917 p.K306R 1 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase 0 no_errors 0 0 0 60 1 1.64 75 25 25 190 0 0.00 163 53 24.54 XPO4 0 genome.wustl.edu 37 13 21374437 21374437 + Missense_Mutation SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 13 21374437 21374437 C T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.2005 p.G669R 1 superfamily_ARM-type_fold superfamily_ARM-type_fold 0 no_errors 0 0 0 44 0 0 35 13 27.08 241 0 0.00 181 38 17.35 TIMM9 0 genome.wustl.edu 37 14 58893879 58893879 + RNA SNP A A T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 14 58893879 58893879 A T SNP TIMM9 ENST00000216463 human ensembl 74_37 -1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 59 1 1.67 77 28 26.67 163 0 0.00 140 44 23.78 PPP4R4 0 genome.wustl.edu 37 14 94741717 94741717 + Missense_Mutation SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 14 94741717 94741717 C T SNP PPP4R4 ENST00000304338 human ensembl 74_37 1 known missense c.2456 p.S819L 0.95 NULL superfamily_ARM-type_fold,pfscan_HEAT_type_2 0 no_errors rs267604108 C->T 0 87 0 0 67 22 24.72 228 0 0.00 229 64 21.69 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C A TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 17 7577538 7577538 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248L 1 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor 0 no_errors 0 0 0 24 0 0 30 11 26.83 145 0 0.00 113 34 23.13 RBBP6 0 genome.wustl.edu 37 16 24581490 24581496 + Frame_Shift_Del DEL TTGAGTC TTGAGTC - TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 TTGAGTC TTGAGTC TTGAGTC - TTGAGTC TTGAGTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 16 24581490 24581496 TTGAGTC 0 DEL RBBP6 ENST00000319715 human ensembl 74_37 1 known frame_shift_del c.3479_3485 p.E1161fs 1.000:0.999:1.000:0.985:0.084:0.080:0.053 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 0 no_errors 0 0 0 44 0 0 24 4 14.29 202 0 0.00 166 7 4.05 MT-CO1 0 genome.wustl.edu 37 MT 6872 6872 + Missense_Mutation SNP A A T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 MT 6872 6872 A T SNP MT-CO1 ENST00000361624 human ensembl 74_37 1 known missense c.969 p.W323C NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 0 no_errors 0 0 0 78 0 0 10 6 37.5 6 0 0.00 2 0 0.00 ENSG00000269888 0 genome.wustl.edu 37 3 161146937 161146937 + RNA SNP G G A TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 3 161146937 161146937 G A SNP ENSG00000269888 ENST00000602890 human ensembl 74_37 1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 29 0 0 29 4 12.12 0 0 0.00 0 0 0.00 TMEM229A 0 genome.wustl.edu 37 7 123672482 123672482 + Silent SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 7 123672482 123672482 C T SNP TMEM229A ENST00000455783 human ensembl 74_37 -1 known silent c.576 p.Q192 0.051 NULL NULL 0 no_errors 0 0 0 26 0 0 20 4 16.67 5 0 0.00 3 0 0.00 NPIPA2 0 genome.wustl.edu 37 16 14859247 14859247 + Missense_Mutation SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 16 14859247 14859247 C T SNP NPIPA2 ENST00000529166 human ensembl 74_37 1 novel missense c.1087 p.R363W 0.065 NULL NULL 0 no_errors 0 0 0 42 1 2.33 62 6 8.82 0 0 0.00 0 0 0.00 FAM230A 0 genome.wustl.edu 37 22 20708961 20708961 + Silent SNP C C T TCGA-3G-AB14-01A-11D-A423-09 TCGA-3G-AB14-11A-22D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c737446-04f3-49eb-ada0-0282c2353364 4a15d726-09ea-450c-9137-a15721887d44 22 20708961 20708961 C T SNP FAM230A ENST00000434783 human ensembl 74_37 1 known silent c.693 p.N231 0.111 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom 0 no_errors rs12172491 C->T 0 24 0 0 17 6 26.09 8 0 0.00 9 0 0.00