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 ADCY5 0 genome.wustl.edu 37 3 123033083 123033083 + Missense_Mutation SNP T T G TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 3 123033083 123033083 T G SNP ADCY5 ENST00000462833 human ensembl 69_37n -1 known missense c.2441 p.K814T 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 42 0 0.00 29 15 34.09 - - - AGL 0 genome.wustl.edu 37 1 100381025 100381025 + Missense_Mutation SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 1 100381025 100381025 G T SNP AGL ENST00000294724 human ensembl 69_37n +1 known missense c.4242 p.M1414I 1.000 pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 33 0 0.00 26 4 13.33 - - - APOBR 0 genome.wustl.edu 37 16 28507458 28507458 + Missense_Mutation SNP G G A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 16 28507458 28507458 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.1096 p.A366T 0.002 NULL NULL - no_errors APOBR HGNC ENSG00000184730 16 0 0.00 21 7 25.00 - - - ASTN1 0 genome.wustl.edu 37 1 176863705 176863705 + Missense_Mutation SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 1 176863705 176863705 G T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.2957 p.T986N 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 24 0 0.00 30 9 23.08 - - - ASXL3 0 genome.wustl.edu 37 18 31320369 31320369 + Nonsense_Mutation SNP C C T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 18 31320369 31320369 C T SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known nonsense c.3001 p.Q1001* 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 49 0 0.00 28 4 12.50 - - - ATXN7L2 0 genome.wustl.edu 37 1 110032625 110032625 + Missense_Mutation SNP C C A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 1 110032625 110032625 C A SNP ATXN7L2 ENST00000369870 human ensembl 69_37n +1 known missense c.1111 p.P371T 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 35 0 0.00 38 6 13.64 - - - CAPN2 0 genome.wustl.edu 37 1 223936765 223936765 + Missense_Mutation SNP G G A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 1 223936765 223936765 G A SNP CAPN2 ENST00000295006 human ensembl 69_37n +1 known missense c.754 p.A252T 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN2 HGNC ENSG00000162909 46 0 0.00 55 28 33.73 - - - CCDC159 0 genome.wustl.edu 37 19 11465396 11465396 + Silent SNP C C A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 19 11465396 11465396 C A SNP CCDC159 ENST00000591691 human ensembl 69_37n +1 putative silent c.435 p.P145 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC159 HGNC ENSG00000183401 39 0 0.00 17 6 26.09 - - - CD247 0 genome.wustl.edu 37 1 167404418 167404418 + RNA DEL T T - TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 1 167404418 167404418 T - DEL CD247 ENST00000483825 human ensembl 69_37n -1 known rna NULL NULL 0.029 - - - no_errors CD247 HGNC ENSG00000198821 8 0 0.00 23 9 27.27 - - - CES5A 0 genome.wustl.edu 37 16 55886867 55886867 + Missense_Mutation SNP C C T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 16 55886867 55886867 C T SNP CES5A ENST00000521992 human ensembl 69_37n -1 known missense c.1286 p.R429Q 0.001 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 102 0 0.00 29 12 29.27 - - - EHMT2 0 genome.wustl.edu 37 6 31860684 31860684 + Missense_Mutation SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 6 31860684 31860684 G T SNP EHMT2 ENST00000395728 human ensembl 69_37n -1 known missense c.757 p.P253T 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 26 0 0.00 19 4 17.39 - - - FAM182B 0 genome.wustl.edu 37 20 25848606 25848606 + RNA SNP G G A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 20 25848606 25848606 G A SNP FAM182B ENST00000478164 human ensembl 69_37n -1 known rna NULL NULL 0.028 - - - no_errors FAM182B HGNC ENSG00000175170 27 0 0.00 58 12 17.14 - - - FRMD1 0 genome.wustl.edu 37 6 168457889 168457889 + Missense_Mutation SNP C C T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 6 168457889 168457889 C T SNP FRMD1 ENST00000283309 human ensembl 69_37n -1 known missense c.1538 p.C513Y 0.002 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 50 0 0.00 34 4 10.53 - - - GRIA4 0 genome.wustl.edu 37 11 105850615 105850615 + RNA SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 11 105850615 105850615 G T SNP GRIA4 ENST00000533094 human ensembl 69_37n +1 putative rna NULL NULL 0.998 - - - no_errors GRIA4 HGNC ENSG00000152578 25 0 0.00 24 4 14.29 - - - IGHV4-31 0 genome.wustl.edu 37 14 106805299 106805299 + Silent SNP A A G TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 14 106805299 106805299 A G SNP IGHV4-31 ENST00000438142 human ensembl 69_37n -1 known silent c.264 p.V88 0.001 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-31 HGNC ENSG00000231475 72 0 0.00 38 9 19.15 - - - KIAA0195 0 genome.wustl.edu 37 17 73491096 73491096 + Silent SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 17 73491096 73491096 G T SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known silent c.2709 p.L903 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 26 0 0.00 30 4 11.76 - - - MRPL17 0 genome.wustl.edu 37 11 6704479 6704479 + Missense_Mutation SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 11 6704479 6704479 G T SNP MRPL17 ENST00000288937 human ensembl 69_37n -1 known missense c.49 p.R17S 0.973 tigrfam_Ribosomal_L17 pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 - no_errors MRPL17 HGNC ENSG00000158042 70 0 0.00 37 5 11.90 - - - MUC4 0 genome.wustl.edu 37 3 195507480 195507480 + Silent SNP T T C TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 3 195507480 195507480 T C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.10971 p.V3657 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 46 0 0.00 79 12 13.19 - - - NTRK2 0 genome.wustl.edu 37 9 87342736 87342736 + Nonsense_Mutation SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 9 87342736 87342736 G T SNP NTRK2 ENST00000277120 human ensembl 69_37n +1 known nonsense c.1021 p.E341* 1.000 pfam_Ig_I-set,prints_Tyr_kin_neurotrophic_rcpt_2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 45 0 0.00 24 11 31.43 - - - NUP153 0 genome.wustl.edu 37 6 17637763 17637763 + Silent SNP A A T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 6 17637763 17637763 A T SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known silent c.2178 p.T726 0.192 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 45 0 0.00 32 10 23.81 - - - PCSK6 0 genome.wustl.edu 37 15 101929764 101929764 + Missense_Mutation SNP G G A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 15 101929764 101929764 G A SNP PCSK6 ENST00000559417 human ensembl 69_37n -1 novel missense c.836 p.P279L 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_start_codon:pseudogene:no_stop_codon PCSK6 HGNC ENSG00000140479 35 0 0.00 34 4 10.53 - - - RNASEH2B 0 genome.wustl.edu 37 13 51519622 51519622 + Missense_Mutation SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 13 51519622 51519622 G T SNP RNASEH2B ENST00000336617 human ensembl 69_37n +1 known missense c.570 p.Q190H 0.960 pfam_RNase_H2_suB pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 30 0 0.00 14 3 17.65 - - - SDK2 0 genome.wustl.edu 37 17 71344748 71344748 + Missense_Mutation SNP G G A TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 17 71344748 71344748 G A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.6155 p.S2052F 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 50 0 0.00 32 4 11.11 - - - SERPINF1 0 genome.wustl.edu 37 17 1679825 1679825 + Splice_Site SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 17 1679825 1679825 G T SNP SERPINF1 ENST00000254722 human ensembl 69_37n +1 known splice_site c.787-1 e6-1 1.000 - - - no_errors SERPINF1 HGNC ENSG00000132386 47 0 0.00 21 3 12.50 - - - SFT2D1 0 genome.wustl.edu 37 6 166737971 166737971 + RNA SNP G G T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 6 166737971 166737971 G T SNP SFT2D1 ENST00000479490 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors SFT2D1 HGNC ENSG00000198818 30 0 0.00 9 3 25.00 - - - SLC16A6 0 genome.wustl.edu 37 17 66270159 66270159 + Missense_Mutation SNP C C T TCGA-AC-A2BM-01A-11D-A21Q-09 TCGA-AC-A2BM-11A-13D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ac1b3eef-a009-421f-971e-e7d88064e62b ee2a49ba-7a24-4021-bbd5-b6b314828893 17 66270159 66270159 C T SNP SLC16A6 ENST00000327268 human ensembl 69_37n -1 known missense c.285 p.M95I 0.778 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 43 0 0.00 23 5 17.86 - - -