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 default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val KIF27 0 genome.wustl.edu 37 9 86518547 86518547 + Missense_Mutation SNP C C T TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 9 86518547 86518547 C T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.886 p.A296T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 - - 35 0 0.00 15 14 48.28 79 0 0.00 40 32 44.44 CNTLN 0 genome.wustl.edu 37 9 17394809 17394809 + Missense_Mutation SNP A A T TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 9 17394809 17394809 A T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.2357 p.N786I 0.998 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 40 0 0.00 18 11 37.93 82 1 1.20 48 25 34.25 VAV2 0 genome.wustl.edu 37 9 136726433 136726433 + R SNP G G T TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 9 136726433 136726433 G T SNP VAV2 ENST00000486113 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 44 0 0.00 33 5 13.16 67 0 0.00 77 6 7.23 MEG3 0 genome.wustl.edu 37 14 101301191 101301191 + R SNP G G C TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 14 101301191 101301191 G C SNP MEG3 ENST00000398461 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 15 0 0.00 5 8 61.54 110 0 0.00 65 6 8.45 ENSG00000267075 0 genome.wustl.edu 37 17 20451533 20451533 + R SNP G G T TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 17 20451533 20451533 G T SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.947 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 32 0 0.00 18 18 50.00 37 1 2.63 26 17 39.53 ABL1 0 genome.wustl.edu 37 9 133738153 133738156 + Frame_Shift_Del DEL TACG TACG - TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 TACG TACG TACG - TACG TACG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 9 133738153 133738156 TACG - DEL ABL1 ENST00000372348 human ensembl 74_37 +1 known frame_shift_del c.610_613 p.Y204fs 1.000:1.000:1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 22 0 0.00 11 10 47.62 29 1 3.33 29 29 50.00 MT-ND5 0 genome.wustl.edu 37 MT 13589 13589 + Missense_Mutation SNP T T C TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b MT 13589 13589 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1253 p.L418P NULL tigrfam_DHpl_OxRdtase_5 pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 32 0 0.00 7 2 22.22 5 0 0.00 0 0 0.00 ATXN2 0 genome.wustl.edu 37 12 112036781 112036785 + Frame_Shift_Del DEL GTTGC GTTGC - TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 GTTGC GTTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 12 112036781 112036785 GTTGC - DEL ATXN2 ENST00000377617 human ensembl 74_37 -1 known frame_shift_del c.538_534 p.Q179fs 0.009:0.008:0.017:0.025:0.032 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 RNU6-172P 0 genome.wustl.edu 37 12 102190269 102190270 + R INS - - T TCGA-DX-AB3C-01A-11D-A417-09 TCGA-DX-AB3C-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7764d76b-a6eb-45bc-b804-abb1baebbbf4 4f3fe851-ad44-4399-88d5-eb4247f4e04b 12 102190269 102190270 - T INS RNU6-172P ENST00000411000 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004 - - - no_errors RNU6-172P HGNC ENSG00000222932 tier1 13 0 0.00 7 3 30.00 37 0 0.00 51 3 5.56