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 12919 12919 + Missense_Mutation SNP T T C TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 MT 12919 12919 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 1 known missense c.583 p.S195P 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 9 0 0 7 4 36.36 0 0 0.00 0 2 100.00 NLGN4X 0 genome.wustl.edu 37 X 5821678 5821678 + Missense_Mutation SNP G G T TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 X 5821678 5821678 G T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1101 p.D367E 0.839 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin 0 no_errors 0 0 0 38 0 0 21 5 19.23 24 0 0.00 19 10 34.48 BCOR 0 genome.wustl.edu 37 X 39932171 39932171 + Nonsense_Mutation SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 X 39932171 39932171 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.2428 p.R810* 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 0 no_errors 0 0 0 29 0 0 26 16 37.21 206 0 0.00 100 67 40.12 CYB5R1 0 genome.wustl.edu 37 1 202931736 202931736 + Silent SNP C C T TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 1 202931736 202931736 C T SNP CYB5R1 ENST00000367249 human ensembl 74_37 -1 known silent c.837 p.G279 0.997 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase 0 no_errors 0 0 0 36 0 0 46 6 11.54 271 0 0.00 200 17 7.83 ZNF513 0 genome.wustl.edu 37 2 27600982 27600982 + Silent SNP G G C TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 2 27600982 27600982 G C SNP ZNF513 ENST00000323703 human ensembl 74_37 -1 known silent c.1056 p.P352 1 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 0 no_errors 0 0 0 59 0 0 60 5 7.69 166 0 0.00 94 12 11.32 SF3B1 0 genome.wustl.edu 37 2 198266834 198266834 + Missense_Mutation SNP T T C TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 2 198266834 198266834 T C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.2098 p.K700E 1 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold 0 no_errors rs559063155 T->C 0 29 0 0 38 4 9.52 348 0 0.00 262 25 8.71 COL25A1 0 genome.wustl.edu 37 4 109767374 109767374 + Missense_Mutation SNP C C G TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 4 109767374 109767374 C G SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.1436 p.G479A 1 pfam_Collagen pfam_Collagen 0 no_errors 0 0 0 140 0 0 201 18 8.22 508 1 0.20 325 24 6.88 PLEKHG4B 0 genome.wustl.edu 37 5 143228 143228 + Missense_Mutation SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 5 143228 143228 G A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 1 known missense c.476 p.G159E 0 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain 0 no_errors 0 0 0 37 0 0 20 4 16.67 96 0 0.00 61 7 10.14 SLU7 0 genome.wustl.edu 37 5 159833628 159833628 + Silent SNP G G T TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 5 159833628 159833628 G T SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known silent c.1134 p.G378 0.964 pfam_Slu7 pfam_Slu7,superfamily_Znf_CCHC 0 no_errors 0 0 0 62 0 0 76 12 13.64 541 0 0.00 372 56 13.08 SCAND3 0 genome.wustl.edu 37 6 28542861 28542861 + Missense_Mutation SNP C C T TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 6 28542861 28542861 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1621 p.V541I 0.037 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN 0 no_errors 0 0 0 17 0 0 26 3 10.34 319 0 0.00 196 19 8.84 CYP3A43 0 genome.wustl.edu 37 7 99459367 99459367 + Silent SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 7 99459367 99459367 G A SNP CYP3A43 ENST00000222382 human ensembl 74_37 1 known silent c.1158 p.V386 0 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 0 no_errors 0 0 0 66 0 0 88 9 9.28 254 0 0.00 192 9 4.48 RMDN1 0 genome.wustl.edu 37 8 87520845 87520845 + Missense_Mutation SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 8 87520845 87520845 G A SNP RMDN1 ENST00000406452 human ensembl 74_37 -1 known missense c.5 p.A2V 0.979 NULL NULL 0 no_errors 0 0 0 21 0 0 22 3 12 39 0 0.00 31 6 16.22 KIF5B 0 genome.wustl.edu 37 10 32329384 32329384 + Missense_Mutation SNP A A T TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 10 32329384 32329384 A T SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.216 p.D72E 1 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom 0 no_errors 0 0 0 51 0 0 67 6 8.22 374 1 0.27 283 16 5.35 CHEK1 0 genome.wustl.edu 37 11 125514478 125514478 + Silent SNP A A G TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 11 125514478 125514478 A G SNP CHEK1 ENST00000438015 human ensembl 74_37 1 known silent c.1173 p.Q391 0.002 NULL pfam_Prot_kinase_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_dom 0 no_errors 0 0 0 86 0 0 72 8 10 333 1 0.30 252 24 8.66 SNX19 0 genome.wustl.edu 37 11 130784293 130784293 + Silent SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 11 130784293 130784293 G A SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known silent c.1542 p.A514 1 superfamily_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc 0 no_errors 0 0 0 32 0 0 18 7 28 120 0 0.00 108 8 6.90 SOX1 0 genome.wustl.edu 37 13 112722167 112722167 + Silent SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 13 112722167 112722167 G A SNP SOX1 ENST00000330949 human ensembl 74_37 1 known silent c.195 p.Q65 1 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom 0 no_errors 0 0 0 56 0 0 57 8 12.31 62 0 0.00 66 7 9.59 C19orf59 0 genome.wustl.edu 37 19 7742553 7742553 + Missense_Mutation SNP C C G TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 19 7742553 7742553 C G SNP C19orf59 ENST00000333598 human ensembl 74_37 1 known missense c.125 p.T42S 1 NULL NULL 0 no_errors 0 0 0 42 0 0 42 6 12.5 384 0 0.00 229 34 12.93 C6orf223 0 genome.wustl.edu 37 6 43970530 43970530 + Silent SNP G G A TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 6 43970530 43970530 G A SNP C6orf223 ENST00000336600 human ensembl 74_37 1 known silent c.396 p.A132 0.006 NULL NULL 0 no_errors 0 0 0 21 0 0 20 4 16.67 0 0 0.00 0 0 0.00 LOC100133091 0 genome.wustl.edu 37 7 76256128 76256129 + RNA INS - - GGGG TCGA-XM-A8RI-01A-12D-A423-09 TCGA-XM-A8RI-10A-01D-A426-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dee5dfb7-2fe4-4407-a450-a0a5a91ab1a0 664d4a71-f24b-41bc-bf97-16644d9ddfc1 7 76256128 76256129 0 GGGG INS LOC100133091 ENST00000418663 human ensembl 74_37 1 known rna NULL NULL 0.008:0.010 0 0 0 no_errors 0 0 0 14 0 0 12 4 25 2 0 0.00 5 0 0.00