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 default_gene_name gene_name_source ELAVL1 1994 genome.wustl.edu 37 19 8056669 8056669 + Nonsense_Mutation SNP C C A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 19 8056669 8056669 C A SNP ELAVL1 ENST00000351593 human ensembl 70_37 -1 known nonsense c.112 p.E38* 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000214043 0 genome.wustl.edu 37 12 126942643 126942643 + RNA SNP C C T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 12 126942643 126942643 C T SNP ENSG00000214043 ENST00000397346 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors RP5-944M2.3 Clone_based_vega_gene MROH7 374977 genome.wustl.edu 37 1 55118805 55118805 + Nonsense_Mutation SNP C C G TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 1 55118805 55118805 C G SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known nonsense c.206 p.S69* 0.013 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 2174 2174 + RNA SNP G G A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 MT 2174 2174 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC PLCH1 23007 genome.wustl.edu 37 3 155311967 155311967 + Missense_Mutation SNP A A G TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 3 155311967 155311967 A G SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known missense c.197 p.I66T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 PRAF2 11230 genome.wustl.edu 37 X 48931629 48931629 + Silent SNP C C T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 X 48931629 48931629 C T SNP PRAF2 ENST00000376390 human ensembl 70_37 -1 known silent c.18 p.L6 1.000 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors PRAF2 HGNC PRSS3 5646 genome.wustl.edu 37 9 33794809 33794809 + Missense_Mutation SNP G G A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 9 33794809 33794809 G A SNP PRSS3 ENST00000342836 human ensembl 70_37 +1 known missense c.20 p.S7N 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC PRSS3 5646 genome.wustl.edu 37 9 33794812 33794812 + Missense_Mutation SNP G G T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 9 33794812 33794812 G T SNP PRSS3 ENST00000342836 human ensembl 70_37 +1 known missense c.23 p.G8V 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS3 HGNC RETSAT 54884 genome.wustl.edu 37 2 85577274 85577274 + Missense_Mutation SNP G G A TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 2 85577274 85577274 G A SNP RETSAT ENST00000295802 human ensembl 70_37 -1 known missense c.688 p.R230C 0.000 pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC TSHZ1 10194 genome.wustl.edu 37 18 72999335 72999335 + Missense_Mutation SNP C C T TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 18 72999335 72999335 C T SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known missense c.1973 p.P658L 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ZFP62 643836 genome.wustl.edu 37 5 180276040 180276040 + Missense_Mutation SNP T T C TCGA-HM-A3JJ-01A-21D-A21Q-09 TCGA-HM-A3JJ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0addff5-04c1-4eef-afab-12566d18015f 28db5b6a-4a7b-4308-b7c8-7d43b4c4e503 5 180276040 180276040 T C SNP ZFP62 ENST00000512132 human ensembl 70_37 -1 known missense c.2356 p.K786E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC