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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut EXOC6 54536 broad.mit.edu 37 10 94700482 94700482 + Splice_Site SNP A A T TCGA-HT-8019-01A-21D-2395-08 TCGA-HT-8019-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02719fb3-2c30-4afa-b0e1-b51654332bdb df62fbc1-7e1c-4a99-a231-47ec5ddfc1be g.chr10:94700482A>T ENST00000371552.4 + 13 1226 c.e13-1 EXOC6_ENST00000443748.2_Splice_Site|EXOC6_ENST00000260762.6_Splice_Site|EXOC6_ENST00000371547.4_Splice_Site NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TTTGTATTTTAGGGTTATGGT 0.313000 4 26 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-HT-8019-01A-21D-2395-08 TCGA-HT-8019-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02719fb3-2c30-4afa-b0e1-b51654332bdb df62fbc1-7e1c-4a99-a231-47ec5ddfc1be g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 5 28 1 1 1 1 0 MICA 100507436 broad.mit.edu 37 6 31378387 31378387 + Silent SNP T T C rs78945208 by1000genomes TCGA-HT-8019-01A-21D-2395-08 TCGA-HT-8019-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02719fb3-2c30-4afa-b0e1-b51654332bdb df62fbc1-7e1c-4a99-a231-47ec5ddfc1be g.chr6:31378387T>C ENST00000449934.2 + 2 192 c.138T>C c.(136-138)ctT>ctC p.L46L HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 46 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) CAGGGTTTCTTGCTGAGGTAC 0.532000 5 39 0 0 1 0 0 CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-HT-8019-01A-21D-2395-08 TCGA-HT-8019-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02719fb3-2c30-4afa-b0e1-b51654332bdb df62fbc1-7e1c-4a99-a231-47ec5ddfc1be g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 5 9 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-HT-8019-01A-21D-2395-08 TCGA-HT-8019-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02719fb3-2c30-4afa-b0e1-b51654332bdb df62fbc1-7e1c-4a99-a231-47ec5ddfc1be g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 3 6 --- --- --- ---