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 ETV5 0 genome.wustl.edu 37 3 185823280 185823280 + Missense_Mutation SNP A A G TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 3 185823280 185823280 A G SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.265 p.F89L 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 tier1 - - 36 0 0.00 39 11 22.00 101 0 0.00 87 17 16.35 HYDIN 0 genome.wustl.edu 37 16 70841824 70841824 + Missense_Mutation SNP C C T TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 16 70841824 70841824 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.15025 p.A5009T 0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 rs199657414 - 42 0 0.00 68 11 13.92 102 0 0.00 96 21 17.95 KDM5B 0 genome.wustl.edu 37 1 202709871 202709871 + Silent SNP G G A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 1 202709871 202709871 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known silent c.3123 p.P1041 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 42 0 0.00 29 4 12.12 73 0 0.00 69 9 11.54 NYAP2 0 genome.wustl.edu 37 2 226516263 226516263 + Silent SNP G G A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 2 226516263 226516263 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.1944 p.S648 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 44 0 0.00 44 10 18.52 96 0 0.00 75 24 24.24 ARHGEF9 0 genome.wustl.edu 37 X 62898428 62898429 + Frame_Shift_Ins INS - - A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e X 62898428 62898429 - A INS ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known frame_shift_ins c.586_585 p.E195fs 1.000:0.981 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 tier1 25 0 0.00 21 9 30.00 44 0 0.00 16 15 48.39 CGN 0 genome.wustl.edu 37 1 151503079 151503079 + Missense_Mutation SNP G G T TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 1 151503079 151503079 G T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.2428 p.A810S 0.001 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 tier1 - - 35 0 0.00 22 4 15.38 9 0 0.00 4 0 0.00 ENSG00000259241 0 genome.wustl.edu 37 15 51987959 51987960 + R INS - - A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 15 51987959 51987960 - A INS ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.006 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 tier1 15 0 0.00 14 4 22.22 1 0 0.00 0 0 0.00 LRBA 0 genome.wustl.edu 37 4 151186065 151186069 + R DEL AACAA AACAA - TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 AACAA AACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 4 151186065 151186069 AACAA - DEL LRBA ENST00000503716 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.005:0.005:0.005:0.004 - - - no_errors LRBA HGNC ENSG00000198589 tier1 4 0 0.00 9 0 0.00 4 0 0.00 9 0 0.00 MT-CO1 0 genome.wustl.edu 37 MT 6733 6733 + Missense_Mutation SNP T T A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e MT 6733 6733 T A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.830 p.M277K NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 153 0 0.00 13 2 13.33 2 0 0.00 0 0 0.00 MT-ND5 0 genome.wustl.edu 37 MT 12684 12684 + Silent SNP G G A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e MT 12684 12684 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.348 p.Q116 NULL pfam_DH_UbQ_OxRdtase_chain5/L_N,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 rs28410409 - 188 0 0.00 25 6 19.35 1 0 0.00 1 0 0.00 MT-ND5 0 genome.wustl.edu 37 MT 12705 12705 + Silent SNP C C T TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e MT 12705 12705 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.369 p.I123 NULL pfam_DH_UbQ_OxRdtase_chain5/L_N,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 rs2854122 - 178 0 0.00 19 5 20.83 1 0 0.00 2 0 0.00 MT-ND5 0 genome.wustl.edu 37 MT 13177 13177 + Missense_Mutation SNP G G A TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e MT 13177 13177 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.841 p.G281S NULL pfam_DH_UbQ/plastoQ_OxRdtase,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 - - 216 0 0.00 20 6 23.08 0 0 0.00 0 0 0.00 PPP2R2B 0 genome.wustl.edu 37 5 146258290 146258291 + R INS - - GCTGCTGCT TCGA-K1-A3PO-01A-11D-A21Q-09 TCGA-K1-A3PO-11A-12D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 11bb5036-42ef-479e-b619-46a4aa3ed5cb b2c9d18c-b494-450b-88ea-23fd0434115e 5 146258290 146258291 - GCTGCTGCT INS PPP2R2B ENST00000530902 human ensembl 74_37 -1 known rna NULL NULL 0.975:0.996 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier1 0 0 0.00 3 0 0.00 0 0 0.00 3 0 0.00