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 OR10P1 121130 broad.mit.edu 37 12 56031094 56031094 + Missense_Mutation SNP G G A TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr12:56031094G>A ENST00000309675.2 + 1 451 c.419G>A c.(418-420)cGg>cAg p.R140Q NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R140Q(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 TTGAGCCCACGGGCCTGCATG 0.617000 7 69 0 0 0.029380 0 0 LACTB 114294 broad.mit.edu 37 15 63421818 63421818 + Missense_Mutation SNP G G A TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr15:63421818G>A ENST00000413507.2 + 5 1126 c.1087G>A c.(1087-1089)Gaa>Aaa p.E363K RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Missense_Mutation_p.E363K NM_171846.2 NP_741982.1 P83111 LACTB_HUMAN lactamase, beta 363 mitochondrion hydrolase activity p.E363K(1) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 TGTGCAGGAAGAAAACGAGCC 0.373000 4 60 0 0 0.029380 0 0 NECAP2 55707 broad.mit.edu 37 1 16778446 16778446 + Silent SNP T T C TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr1:16778446T>C ENST00000337132.5 + 6 693 c.603T>C c.(601-603)ccT>ccC p.P201P NECAP2_ENST00000504551.2_Silent_p.P140P|NECAP2_ENST00000457722.2_Silent_p.P175P|NECAP2_ENST00000443980.2_Silent_p.P201P|NECAP2_ENST00000406746.1_Silent_p.P201P NM_001145278.1|NM_018090.4 NP_001138750.1|NP_060560.1 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 201 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane p.P201P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGATCCCTCCCCCTGGGG 0.647000 3 83 0 0 0.014758 0 0 HERC5 51191 broad.mit.edu 37 4 89415467 89415467 + Missense_Mutation SNP G G T TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr4:89415467G>T ENST00000264350.3 + 18 2582 c.2429G>T c.(2428-2430)aGt>aTt p.S810I HERC5_ENST00000508159.1_Missense_Mutation_p.S448I NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 810 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity p.S810I(2)|p.S810T(1) NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AAAGAACTCAGTCCTGATTTG 0.383000 3 60 0.004672 0.00509673 0.004672 1 0 RABGAP1 23637 broad.mit.edu 37 9 125860018 125860018 + Splice_Site SNP A A G TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr9:125860018A>G ENST00000373647.4 + 22 2762 c.e22-1 RABGAP1_ENST00000373643.5_Splice_Site NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding p.?(2) breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TAAATGTTTCAGGCTGAGGAA 0.403000 3 73 0 0 0.004672 0 0 PHKA2 5256 broad.mit.edu 37 X 18929061 18929061 + Missense_Mutation SNP G G A TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chrX:18929061G>A ENST00000379942.4 - 20 2820 c.2155C>T c.(2155-2157)Ccg>Tcg p.P719S NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 719 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ACTTTAGTCGGCAAAGTCATG 0.363000 4 76 0 0 0.009096 0 0 SLC2A6 11182 broad.mit.edu 37 9 136340607 136340607 + Missense_Mutation SNP G G T TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr9:136340607G>T ENST00000371899.4 - 5 766 c.689C>A c.(688-690)gCc>gAc p.A230D SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.A230D NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 230 integral to membrane|plasma membrane D-glucose transmembrane transporter activity p.A230D(3) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CGCCCGCAGGGCCTCTTCGTC 0.667000 5 27 1.23904e-05 1.48685e-05 0.014758 1 0 IL1RAP 0 broad.mit.edu 37 3 190345113 190345113 + Splice_Site SNP A A G TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr3:190345113A>G ENST00000412504.2 + 7 1029 c.775_splice c.e7-1 p.G259_splice IL1RAP_ENST00000439062.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000447382.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000317757.3_Splice_Site_p.G259_splice|IL1RAP_ENST00000422940.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000443369.2_Splice_Site_p.G259_splice|IL1RAP_ENST00000072516.3_Splice_Site_p.G259_splice|IL1RAP_ENST00000422485.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000434491.1_Splice_Site_p.G118_splice Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 259 Ig-like C2-type 3. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane p.G259G(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) tttttTCAGGAGAGGAGCTAC 0.323000 3 44 0 0 0.014758 0 0 RP5-1043L13.1 0 broad.mit.edu 37 20 58889825 58889826 + RNA INS - - CCAT TCGA-G9-6370-01A-11D-1786-08 TCGA-G9-6370-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9689cb33-8ac9-4ee5-800d-3900769988af 8b44f615-8f5d-4c2d-8c8b-8d48de8db586 g.chr20:58889825_58889826insCCAT ENST00000432910.1 + 0 332 NR_046099.1 catccatcctcccatcctccca 0.569 2 4 --- --- --- ---