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 TACSTD2 4070 broad.mit.edu 37 1 59042487 59042487 + Missense_Mutation SNP G G T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:59042487G>T ENST00000371225.2 - 1 679 c.342C>A c.(340-342)ttC>ttA p.F114L NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 114 Thyroglobulin type-1. cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) GGCGCGCCTTGAAGCGGCCCT 0.701 10 4 --- --- --- --- OR2G2 81470 broad.mit.edu 37 1 247752563 247752563 + Missense_Mutation SNP A A T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr1:247752563A>T ENST00000320065.1 + 1 902 c.902A>T c.(901-903)aAa>aTa p.K301I RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGAGGTGAAAGGGGCATTA 0.368 6 101 --- --- --- --- CCDC108 255101 broad.mit.edu 37 2 219892592 219892592 + Missense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr2:219892592G>A ENST00000341552.5 - 13 2074 c.1991C>T c.(1990-1992)cCa>cTa p.P664L CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 664 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCAGGCCCTGGGCAGGCACC 0.617 16 24 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100682353 100682353 + Silent SNP C C A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr7:100682353C>A ENST00000306151.4 + 3 7720 c.7656C>A c.(7654-7656)atC>atA p.I2552I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2552 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTACTGAAATCAGTTCATCTG 0.502 74 197 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110452985 110452985 + Missense_Mutation SNP A A C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr8:110452985A>C ENST00000378402.5 + 33 4107 c.4003A>C c.(4003-4005)Atg>Ctg p.M1335L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1335 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTGACCAGCATGTTTCCACA 0.368 HNSCC(38;0.096) 14 111 --- --- --- --- SLC17A6 57084 broad.mit.edu 37 11 22382484 22382484 + Nonsense_Mutation SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:22382484G>A ENST00000263160.3 + 5 1052 c.615G>A c.(613-615)tgG>tgA p.W205* NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 205 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GGAGCAAATGGGCCCCACCTC 0.478 3 33 --- --- --- --- MYO7A 4647 broad.mit.edu 37 11 76873971 76873971 + Missense_Mutation SNP A A T TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:76873971A>T ENST00000409709.3 + 14 1899 c.1627A>T c.(1627-1629)Aac>Tac p.N543Y MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 543 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCCCCCCAAGAACAACCATGA 0.572 8 153 --- --- --- --- OR8G5 219865 broad.mit.edu 37 11 124135393 124135393 + Missense_Mutation SNP G G C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr11:124135393G>C ENST00000524943.2 + 1 671 c.671G>C c.(670-672)tGt>tCt p.C224S OR8G1_ENST00000341493.2_RNA NM_001005198.1 NP_001005198.1 olfactory receptor, family 8, subfamily G, member 5 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523) AAGCTCTCCTGTTCTAGTACT 0.368 18 120 --- --- --- --- TUBGCP3 10426 broad.mit.edu 37 13 113223466 113223466 + Splice_Site SNP G G A TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr13:113223466G>A ENST00000261965.3 - 2 370 c.184C>T c.(184-186)Ctt>Ttt p.L62F TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 62 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) AAATACGTACGCTCTTTCTTG 0.413 9 31 --- --- --- --- CEP152 22995 broad.mit.edu 37 15 49059645 49059645 + Nonsense_Mutation SNP A A C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr15:49059645A>C ENST00000380950.2 - 16 2221 c.2034T>G c.(2032-2034)taT>taG p.Y678* CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 678 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GGTGCTGCTGATAAGTCCTTT 0.458 21 33 --- --- --- --- ZNF568 374900 broad.mit.edu 37 19 37440962 37440962 + Missense_Mutation SNP G G C TCGA-2A-A8VV-01A-11D-A377-08 TCGA-2A-A8VV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8ff080c-59c0-40d6-b8b1-4480719d7d17 1a90833f-1b9b-4585-8e45-807709fcf434 g.chr19:37440962G>C ENST00000415168.1 + 5 1091 c.715G>C c.(715-717)Gag>Cag p.E239Q ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCATACTGGGGAGAAACCTTA 0.378 4 40 --- --- --- ---