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 C9orf43 0 genome.wustl.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 9 116187646 116187648 GCA - DEL C9orf43 ENST00000288462 human ensembl 69_37n +1 known in_frame_del c.888_890 p.Q300in_frame_del 0.211:0.207:0.211 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 33 0 0.00 30 4 11.76 - - - C9orf78 0 genome.wustl.edu 37 9 132590352 132590352 + RNA SNP A A G TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 9 132590352 132590352 A G SNP C9orf78 ENST00000461349 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C9orf78 HGNC ENSG00000136819 10 0 0.00 6 12 66.67 - - - C9orf78 0 genome.wustl.edu 37 9 132590353 132590353 + RNA SNP G G T TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 9 132590353 132590353 G T SNP C9orf78 ENST00000461349 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors C9orf78 HGNC ENSG00000136819 10 0 0.00 6 12 66.67 - - - CCNY 0 genome.wustl.edu 37 10 35842095 35842095 + Missense_Mutation SNP A A C TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 10 35842095 35842095 A C SNP CCNY ENST00000374704 human ensembl 69_37n +1 known missense c.728 p.D243A 1.000 pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNY HGNC ENSG00000108100 65 0 0.00 39 9 18.75 - - - CDH1 0 genome.wustl.edu 37 16 68849631 68849631 + Nonsense_Mutation SNP G G T TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 16 68849631 68849631 G T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1534 p.E512* 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 92 0 0.00 51 7 12.07 - - - CRAT 0 genome.wustl.edu 37 9 131871216 131871216 + RNA SNP G G A TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 9 131871216 131871216 G A SNP CRAT ENST00000460708 human ensembl 69_37n -1 putative rna NULL NULL 0.008 - - - no_errors CRAT HGNC ENSG00000095321 56 0 0.00 61 7 10.29 - - - FMN1 0 genome.wustl.edu 37 15 33445437 33445437 + Missense_Mutation SNP C C G TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 15 33445437 33445437 C G SNP FMN1 ENST00000320930 human ensembl 69_37n -1 known missense c.1679 p.R560P 0.001 NULL NULL - no_errors FMN1 HGNC ENSG00000248905 61 0 0.00 31 11 26.19 - - - GAP43 0 genome.wustl.edu 37 3 115395232 115395232 + Missense_Mutation SNP G G A TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 3 115395232 115395232 G A SNP GAP43 ENST00000305124 human ensembl 69_37n +1 known missense c.403 p.A135T 1.000 pfam_Neuromodulin_C pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS - no_errors GAP43 HGNC ENSG00000172020 62 0 0.00 55 15 21.13 - - - GIMAP8 0 genome.wustl.edu 37 7 150174788 150174788 + Missense_Mutation SNP G G A TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 7 150174788 150174788 G A SNP GIMAP8 ENST00000307271 human ensembl 69_37n +1 known missense c.1918 p.V640I 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 52 0 0.00 13 3 18.75 - - - LINGO2 0 genome.wustl.edu 37 9 27950323 27950323 + Missense_Mutation SNP C C T TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 9 27950323 27950323 C T SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.347 p.R116H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 39 0 0.00 26 6 18.75 - - - MUC5B 0 genome.wustl.edu 37 11 1268037 1268037 + Silent SNP G G A TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 11 1268037 1268037 G A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.9936 p.P3312 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 36 0 0.00 34 5 12.82 - - - NLRP7 0 genome.wustl.edu 37 19 55451644 55451644 + Silent SNP G G A TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 19 55451644 55451644 G A SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known silent c.627 p.G209 0.153 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 105 0 0.00 63 21 25.00 - - - OR51B5 0 genome.wustl.edu 37 11 5364309 5364309 + Missense_Mutation SNP C C T TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 11 5364309 5364309 C T SNP OR51B5 ENST00000300773 human ensembl 69_37n -1 known missense c.446 p.R149K 0.028 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 25 0 0.00 12 3 20.00 - - - PRKDC 0 genome.wustl.edu 37 8 48701485 48701485 + Frame_Shift_Del DEL A A - TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 8 48701485 48701485 A - DEL PRKDC ENST00000314191 human ensembl 69_37n -1 known frame_shift_del c.10881 p.F3627fs 0.183 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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_errors PRKDC HGNC ENSG00000253729 54 0 0.00 17 2 10.53 - - - RUNX1 0 genome.wustl.edu 37 21 36252998 36252998 + Missense_Mutation SNP C C G TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 21 36252998 36252998 C G SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known missense c.364 p.G122R 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 50 0 0.00 34 6 15.00 - - - TCN2 0 genome.wustl.edu 37 22 31008889 31008889 + Missense_Mutation SNP G G A TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 22 31008889 31008889 G A SNP TCN2 ENST00000215838 human ensembl 69_37n +1 known missense c.287 p.C96Y 0.003 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 30 0 0.00 30 5 14.29 - - - ZNF507 0 genome.wustl.edu 37 19 32838287 32838287 + RNA SNP A A C TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 19 32838287 32838287 A C SNP ZNF507 ENST00000588686 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZNF507 HGNC ENSG00000168813 10 0 0.00 1 8 88.89 - - - ZNF81 0 genome.wustl.edu 37 X 47775907 47775907 + Missense_Mutation SNP A A T TCGA-OL-A5RV-01A-12D-A28B-09 TCGA-OL-A5RV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c44645c5-d31b-43ae-9786-7fc7742d0619 c9a00734-ddab-4cdc-9fa2-614e08118842 X 47775907 47775907 A T SNP ZNF81 ENST00000338637 human ensembl 69_37n +1 known missense c.1862 p.D621V 0.011 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 75 0 0.00 28 16 36.36 - - -