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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACVR2B 0 genome.wustl.edu 37 3 38519699 38519699 + Silent SNP C C T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 3 38519699 38519699 C T SNP ACVR2B ENST00000352511 human ensembl 69_37n +1 known silent c.438 p.I146 0.363 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2B HGNC ENSG00000114739 25 0 0.00 33 14 29.17 - - - ATXN1 0 genome.wustl.edu 37 6 16306707 16306707 + Silent SNP C C T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 6 16306707 16306707 C T SNP ATXN1 ENST00000244769 human ensembl 69_37n -1 known silent c.2301 p.A767 0.012 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 78 0 0.00 96 12 11.11 - - - ATXN3 0 genome.wustl.edu 37 14 92562444 92562444 + Missense_Mutation SNP G G A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 14 92562444 92562444 G A SNP ATXN3 ENST00000545170 human ensembl 69_37n -1 known missense c.227 p.S76F 1.000 pfam_Josephin,pfscan_Josephin,prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 60 0 0.00 17 4 19.05 - - - CTNNA1 0 genome.wustl.edu 37 5 138264934 138264934 + Splice_Site SNP G G T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 5 138264934 138264934 G T SNP CTNNA1 ENST00000302763 human ensembl 69_37n +1 known splice_site c.1900-1 e13-1 1.000 - - - no_errors CTNNA1 HGNC ENSG00000044115 39 0 0.00 46 15 24.59 - - - ERG 0 genome.wustl.edu 37 21 39755519 39755519 + Missense_Mutation SNP G G T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 21 39755519 39755519 G T SNP ERG ENST00000398919 human ensembl 69_37n -1 known missense c.1267 p.P423T 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ERG HGNC ENSG00000157554 53 0 0.00 35 6 14.63 - - - GYPA 0 genome.wustl.edu 37 4 145035868 145035868 + Frame_Shift_Del DEL A A - TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 4 145035868 145035868 A - DEL GYPA ENST00000360771 human ensembl 69_37n -1 known frame_shift_del c.410 p.L137fs 0.001 pfam_Glycophorin,pirsf_Glycophorin pfam_Glycophorin,pirsf_Glycophorin - no_errors GYPA HGNC ENSG00000170180 74 0 0.00 8 2 20.00 - - - ITPR3 0 genome.wustl.edu 37 6 33631568 33631568 + Missense_Mutation SNP C C G TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 6 33631568 33631568 C G SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.1059 p.C353W 1.000 pfam_MIR,superfamily_MIR,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 30 0 0.00 77 21 21.21 - - - KRTAP10-7 0 genome.wustl.edu 37 21 46020889 46020889 + Missense_Mutation SNP T T A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 21 46020889 46020889 T A SNP KRTAP10-7 ENST00000380102 human ensembl 69_37n +1 known missense c.368 p.V123D 0.009 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 43 0 0.00 33 16 32.65 - - - KRTAP19-2 0 genome.wustl.edu 37 21 31859634 31859634 + Missense_Mutation SNP A A T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 21 31859634 31859634 A T SNP KRTAP19-2 ENST00000334055 human ensembl 69_37n -1 known missense c.34 p.F12I 0.013 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-2 HGNC ENSG00000186965 63 0 0.00 29 19 38.78 - - - NRK 0 genome.wustl.edu 37 X 105132399 105132399 + Missense_Mutation SNP G G A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 X 105132399 105132399 G A SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.365 p.R122Q 0.954 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 134 1 0.74 40 7 14.89 - - - PIK3C2B 0 genome.wustl.edu 37 1 204438798 204438798 + Missense_Mutation SNP C C T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 1 204438798 204438798 C T SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known missense c.133 p.E45K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 50 0 0.00 10 19 65.52 - - - PLCH1 0 genome.wustl.edu 37 3 155232586 155232586 + Nonsense_Mutation SNP C C A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 3 155232586 155232586 C A SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known nonsense c.1522 p.E508* 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 76 0 0.00 17 5 22.73 - - - PLD5 0 genome.wustl.edu 37 1 242451687 242451687 + Missense_Mutation SNP G G T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 1 242451687 242451687 G T SNP PLD5 ENST00000536534 human ensembl 69_37n -1 known missense c.472 p.H158N 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 84 0 0.00 18 24 57.14 - - - RGMA 0 genome.wustl.edu 37 15 93588269 93588269 + Missense_Mutation SNP C C T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 15 93588269 93588269 C T SNP RGMA ENST00000329082 human ensembl 69_37n -1 known missense c.1312 p.A438T 0.000 NULL pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 8 0 0.00 12 6 31.58 - - - SMARCA1 0 genome.wustl.edu 37 X 128631871 128631871 + Missense_Mutation SNP A A T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 X 128631871 128631871 A T SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.1455 p.S485R 1.000 NULL pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 82 0 0.00 19 10 34.48 - - - STXBP2 0 genome.wustl.edu 37 19 7712614 7712614 + Missense_Mutation SNP C C G TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 19 7712614 7712614 C G SNP STXBP2 ENST00000441779 human ensembl 69_37n +1 known missense c.1733 p.S578C 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 58 0 0.00 39 16 28.57 - - - TRRAP 0 genome.wustl.edu 37 7 98527687 98527687 + Nonsense_Mutation SNP C C T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 7 98527687 98527687 C T SNP TRRAP ENST00000456197 human ensembl 69_37n +1 novel nonsense c.2395 p.R799* 0.999 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRRAP HGNC ENSG00000196367 62 0 0.00 20 12 37.50 - - - UNC13D 0 genome.wustl.edu 37 17 73836636 73836636 + Silent SNP C C T TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 17 73836636 73836636 C T SNP UNC13D ENST00000412096 human ensembl 69_37n -1 known silent c.705 p.K235 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC ENSG00000092929 64 0 0.00 23 12 34.29 - - - ZBTB38 0 genome.wustl.edu 37 3 141164333 141164333 + Missense_Mutation SNP G G A TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 3 141164333 141164333 G A SNP ZBTB38 ENST00000321464 human ensembl 69_37n +1 known missense c.3106 p.E1036K 0.998 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 27 0 0.00 27 17 38.64 - - - ZNF629 0 genome.wustl.edu 37 16 30793176 30793176 + Missense_Mutation SNP T T C TCGA-A2-A1FX-01A-11D-A13L-09 TCGA-A2-A1FX-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74 8d56ba71-9300-4982-8908-7a350aa3b040 16 30793176 30793176 T C SNP ZNF629 ENST00000262525 human ensembl 69_37n -1 known missense c.2473 p.S825G 0.855 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 36 0 0.00 44 10 18.52 - - -