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 NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU LOC392501 0 genome.wustl.edu 36 X 91818303 91818303 + RNA SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e X 91818303 91818303 C T SNP LOC392501 XR_016267.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 74 1 1.30 36 33 47.83 128 0 0.00 SPEN 0 genome.wustl.edu 36 1 16127271 16127271 + Missense_Mutation SNP A A C TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 1 16127271 16127271 A C SNP SPEN NM_015001.2 human genbank 54_36p +1 reviewed missense c.1949 p.Y650S 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928 - no_errors 108 1 0.92 104 56 35.00 26 16 38.10 CATSPER4 0 genome.wustl.edu 36 1 26397073 26397073 + Missense_Mutation SNP C C A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 1 26397073 26397073 C A SNP CATSPER4 NM_198137.1 human genbank 54_36p +1 validated missense c.596 p.P199H 0.993 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels - no_errors 202 1 0.49 106 30 22.06 NA NA NA LRBA 0 genome.wustl.edu 36 4 152040803 152040803 + Missense_Mutation SNP T T C TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 4 152040803 152040803 T C SNP LRBA NM_006726.2 human genbank 54_36p -1 validated missense c.1772 p.Y591C 1.000 superfamily_ARM repeat HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like - no_errors 197 2 1.01 101 37 26.81 22 15 40.54 PHACTR1 0 genome.wustl.edu 36 6 13314308 13314308 + Missense_Mutation SNP T T G TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 6 13314308 13314308 T G SNP PHACTR1 NM_030948.1 human genbank 54_36p +1 validated missense c.947 p.L316R 1.000 NULL HMMPfam_RPEL,HMMSmart_SM00707 - no_errors 110 0 0.00 159 39 19.70 6 1 14.29 ZNF783 0 genome.wustl.edu 36 7 148595232 148595232 + Missense_Mutation SNP G G A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 7 148595232 148595232 G A SNP ZNF783 ENST00000378052 human ensembl 54_36p +1 known missense c.659 p.R220K 0.002 NULL HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box - no_errors 291 1 0.34 248 103 29.34 28 16 36.36 LZTS1 0 genome.wustl.edu 36 8 20155148 20155148 + Missense_Mutation SNP G G C TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 8 20155148 20155148 G C SNP LZTS1 NM_021020.2 human genbank 54_36p -1 validated missense c.574 p.Q192E 1.000 NULL HMMPfam_Fez1 - no_errors 91 0 0.00 97 52 34.90 NA NA NA FLJ43860 0 genome.wustl.edu 36 8 142555396 142555396 + Silent SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 8 142555396 142555396 C T SNP FLJ43860 NM_207414.2 human genbank 54_36p -1 validated silent c.1479 p.K493 0.033 NULL HMMPfam_HEAT,superfamily_ARM repeat - pseudogene 55 0 0.00 120 30 20.00 NA NA NA EPPK1 0 genome.wustl.edu 36 8 145012278 145012278 + Missense_Mutation SNP C C G TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 8 145012278 145012278 C G SNP EPPK1 NM_031308.1 human genbank 54_36p -1 provisional missense c.7057 p.D2353H 1.000 HMMPfam_Plectin,superfamily_Plakin repeat HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat - no_stop_codon:bad_bp_length_for_coding_region 11 0 0.00 33 10 23.26 19 2 9.52 STK33 0 genome.wustl.edu 36 11 8431029 8431029 + Missense_Mutation SNP C C A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 11 8431029 8431029 C A SNP STK33 NM_030906.2 human genbank 54_36p -1 validated missense c.787 p.V263L 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 131 0 0.00 169 61 26.52 NA NA NA C1RL 0 genome.wustl.edu 36 12 7140607 7140607 + Missense_Mutation SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 12 7140607 7140607 C T SNP C1RL NM_016546.1 human genbank 54_36p -1 provisional missense c.986 p.R329H 0.357 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER - no_errors 172 0 0.00 129 50 27.93 20 11 35.48 RFX4 0 genome.wustl.edu 36 12 105599943 105599943 + Missense_Mutation SNP G G A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 12 105599943 105599943 G A SNP RFX4 NM_213594.3 human genbank 54_36p +1 reviewed missense c.358 p.G120R 1.000 HMMPfam_RFX_DNA_binding,superfamily_SSF46785 HMMPfam_RFX_DNA_binding,superfamily_SSF46785 - no_errors 163 0 0.00 194 65 25.10 NA NA NA CSPG4 0 genome.wustl.edu 36 15 73769113 73769113 + Missense_Mutation SNP T T A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 15 73769113 73769113 T A SNP CSPG4 NM_001897.4 human genbank 54_36p -1 reviewed missense c.1348 p.R450W 0.098 NULL HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA - no_errors 20 0 0.00 12 4 25.00 NA NA NA LOC729217 0 genome.wustl.edu 36 16 62852158 62852158 + RNA SNP G G T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 16 62852158 62852158 G T SNP LOC729217 XR_015483.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 165 0 0.00 138 48 25.81 34 0 0.00 ZC3H18 0 genome.wustl.edu 36 16 87193847 87193847 + Missense_Mutation SNP A A G TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 16 87193847 87193847 A G SNP ZC3H18 NM_144604.2 human genbank 54_36p +1 provisional missense c.1078 p.R360G 1.000 NULL HMMPfam_zf-CCCH,HMMSmart_SM00356 - no_errors 35 0 0.00 64 24 27.27 61 40 39.60 TP53 0 genome.wustl.edu 36 17 7519280 7519280 + Splice_Site SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 17 7519280 7519280 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1.000 - - - no_errors 281 0 0.00 97 80 45.20 5 5 50.00 MCART2 0 genome.wustl.edu 36 18 27593841 27593841 + Missense_Mutation SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 18 27593841 27593841 C T SNP MCART2 NM_001034172.2 human genbank 54_36p -1 validated missense c.782 p.R261Q 1.000 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors 70 0 0.00 54 31 36.47 1 0 0.00 PLEKHG2 0 genome.wustl.edu 36 19 44605603 44605603 + Missense_Mutation SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 19 44605603 44605603 C T SNP PLEKHG2 NM_022835.2 human genbank 54_36p +1 validated missense c.1943 p.S648F 0.098 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors 214 0 0.00 272 66 19.53 25 3 10.71