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 DDX26B 0 genome.wustl.edu 37 X 134655184 134655184 + Missense_Mutation SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b X 134655184 134655184 G A SNP DDX26B ENST00000370752 human ensembl 74_37 1 known missense c.130 p.A44T 1 pfscan_VWF_A pfscan_VWF_A 0 no_errors 0 0 0 30 0 0 28 4 12.5 96 0 0.00 58 3 4.84 TP73 0 genome.wustl.edu 37 1 3638592 3638592 + Missense_Mutation SNP C C T TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 1 3638592 3638592 C T SNP TP73 ENST00000378295 human ensembl 74_37 1 known missense c.437 p.P146L 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor 0 no_errors 0 0 0 63 0 0 52 12 18.75 182 0 0.00 144 16 10.00 PEX14 0 genome.wustl.edu 37 1 10689946 10689946 + Nonsense_Mutation SNP C C T TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 1 10689946 10689946 C T SNP PEX14 ENST00000356607 human ensembl 74_37 1 known nonsense c.1036 p.Q346* 1 NULL pfam_Pex14_N 0 no_errors 0 0 0 29 0 0 9 3 25 80 0 0.00 76 11 12.64 HRNR 0 genome.wustl.edu 37 1 152192370 152192370 + Missense_Mutation SNP C C T TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 1 152192370 152192370 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1735 p.G579S 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom 0 no_errors rs151024802 C->T 0 75 0 0 78 6 7.14 38 0 0.00 36 11 23.40 FEZ2 0 genome.wustl.edu 37 2 36780128 36780128 + RNA SNP A A G TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 2 36780128 36780128 A G SNP FEZ2 ENST00000487282 human ensembl 74_37 -1 known rna NULL NULL 0.006 0 0 0 no_errors 0 0 0 91 0 0 46 7 13.21 265 0 0.00 212 23 9.75 SCN1A 0 genome.wustl.edu 37 2 166848733 166848733 + Silent SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 2 166848733 166848733 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.5052 p.Y1684 0.934 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 0 no_errors 0 0 0 133 0 0 82 14 14.58 57 0 0.00 44 3 6.38 ATP2B2 0 genome.wustl.edu 37 3 10400446 10400446 + Missense_Mutation SNP T T C TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 3 10400446 10400446 T C SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.2065 p.N689D 1 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 0 no_errors 0 0 0 30 0 0 11 4 26.67 105 0 0.00 78 10 11.36 RNF212 0 genome.wustl.edu 37 4 1050231 1050231 + RNA SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 4 1050231 1050231 G A SNP RNF212 ENST00000503206 human ensembl 74_37 -1 known rna NULL NULL 0.021 0 0 0 no_errors 0 0 0 67 0 0 37 6 13.95 270 0 0.00 187 43 18.70 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 513 0 0 279 44 13.58 148 0 0.00 125 15 10.64 INTS9 0 genome.wustl.edu 37 8 28627418 28627418 + Missense_Mutation SNP C C G TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 8 28627418 28627418 C G SNP INTS9 ENST00000521022 human ensembl 74_37 -1 known missense c.1788 p.Q596H 1 NULL pfam_Beta_Casp 0 no_errors 0 0 0 34 0 0 29 3 9.38 155 0 0.00 131 11 7.75 ADAM3A 0 genome.wustl.edu 37 8 39350705 39350705 + RNA SNP T T A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 8 39350705 39350705 T A SNP ADAM3A ENST00000424066 human ensembl 74_37 -1 known rna NULL NULL 0.153 0 0 0 no_errors 0 0 0 66 0 0 37 5 11.9 187 0 0.00 130 25 16.13 PKHD1L1 0 genome.wustl.edu 37 8 110451154 110451154 + Silent SNP T T C TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 8 110451154 110451154 T C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 1 known silent c.3789 p.Y1263 1 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 0 no_errors 0 0 0 114 0 0 67 15 18.29 294 0 0.00 205 17 7.66 DBX1 0 genome.wustl.edu 37 11 20177914 20177914 + Missense_Mutation SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 11 20177914 20177914 G A SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known missense c.995 p.A332V 0 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 0 no_errors 0 0 0 40 0 0 34 10 22.73 43 0 0.00 21 6 22.22 KCNA4 0 genome.wustl.edu 37 11 30034742 30034742 + RNA SNP C C A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 11 30034742 30034742 C A SNP KCNA4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 0.97 0 0 0 no_errors 0 0 0 130 0 0 65 8 10.81 356 2 0.56 209 33 13.64 ANO6 0 genome.wustl.edu 37 12 45784258 45784258 + Missense_Mutation SNP T T A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 12 45784258 45784258 T A SNP ANO6 ENST00000425752 human ensembl 74_37 1 known missense c.1363 p.C455S 1 pfam_Anoctamin pfam_Anoctamin 0 no_errors 0 0 0 153 0 0 70 14 16.67 371 0 0.00 280 37 11.64 MYBPC1 0 genome.wustl.edu 37 12 102025390 102025390 + Missense_Mutation SNP C C A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 12 102025390 102025390 C A SNP MYBPC1 ENST00000361466 human ensembl 74_37 1 known missense c.331 p.L111I 1 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom 0 no_errors 0 0 0 67 0 0 39 5 11.36 191 0 0.00 145 24 14.20 DHX40 0 genome.wustl.edu 37 17 57654626 57654626 + Splice_Site SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 17 57654626 57654626 G A SNP DHX40 ENST00000251241 human ensembl 74_37 1 known splice_site c.974-1 e8-1 1 0 0 0 no_errors 0 0 0 100 0 0 65 8 10.96 333 0 0.00 237 23 8.81 ANKRD12 0 genome.wustl.edu 37 18 9257210 9257210 + Silent SNP C C T TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 18 9257210 9257210 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 1 known silent c.3945 p.V1315 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt 0 no_errors 0 0 0 103 0 0 40 10 20 340 0 0.00 258 35 11.90 EMR1 0 genome.wustl.edu 37 19 6919662 6919662 + Silent SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 19 6919662 6919662 G A SNP EMR1 ENST00000312053 human ensembl 74_37 1 known silent c.1524 p.K508 0.041 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like 0 no_errors 0 0 0 39 0 0 35 4 10.26 191 0 0.00 141 16 10.19 CYP4F12 0 genome.wustl.edu 37 19 15806749 15806749 + Silent SNP C C T TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 19 15806749 15806749 C T SNP CYP4F12 ENST00000324632 human ensembl 74_37 1 known silent c.1119 p.D373 1 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II 0 no_errors 0 0 0 65 0 0 46 7 13.21 133 1 0.75 131 21 13.82 PCNT 0 genome.wustl.edu 37 21 47860018 47860018 + Missense_Mutation SNP A A T TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 21 47860018 47860018 A T SNP PCNT ENST00000359568 human ensembl 74_37 1 known missense c.9296 p.K3099M 0.997 NULL pfam_PACT_domain 0 no_errors 0 0 0 51 0 0 36 8 18.18 98 1 1.01 68 8 10.53 PCYT1B 0 genome.wustl.edu 37 X 24580544 24580548 + Frame_Shift_Del DEL GGGTT GGGTT - TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 GGGTT GGGTT GGGTT - GGGTT GGGTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b X 24580544 24580548 GGGTT 0 DEL PCYT1B ENST00000379144 human ensembl 74_37 -1 known frame_shift_del c.976_972 p.T325fs 0.102:0.073:0.869:0.862:0.173 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like 0 no_errors 0 0 0 54 0 0 32 4 11.11 180 0 0.00 121 7 5.47 PTTG1IP 0 genome.wustl.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 GCA GCA GCA - GCA GCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b 21 46276194 46276196 GCA 0 DEL PTTG1IP ENST00000330938 human ensembl 74_37 -1 known in_frame_del c.363_361 p.C121in_frame_del 1.000:1.000:1.000 NULL smart_Plexin-like_fold 0 no_errors 0 0 0 50 0 0 28 3 9.68 111 0 0.00 80 4 4.76 MT-CO1 0 genome.wustl.edu 37 MT 7220 7220 + Silent SNP T T C TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b MT 7220 7220 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 1 known silent c.1317 p.R439 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 29 0 0 17 5 22.73 1 0 0.00 1 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 7970 7970 + Missense_Mutation SNP G G A TCGA-ZC-AAAF-01A-11D-A428-09 TCGA-ZC-AAAF-10A-01D-A42B-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6a088d9-72c2-4ee9-9b27-148fedb2fb01 13112162-6020-4a40-ada2-cd2e1131958b MT 7970 7970 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 1 known missense c.385 p.E129K NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 0 no_errors 0 0 0 170 0 0 155 19 10.92 0 0 0.00 0 0 0.00