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 RERE 473 broad.mit.edu 37 1 8716118 8716118 + Missense_Mutation SNP G G A rs139888880 byFrequency TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr1:8716118G>A uc001ape.3 - 2 1049 c.239C>T c.(238-240)cCg>cTg p.P80L RERE_uc001apf.3_Missense_Mutation_p.P80L|RERE_uc001aph.1_Missense_Mutation_p.P80L NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 80 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P80Q(2) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTTTTTTTTCGGTGGTTTCTT 0.443000 17 255 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562110 11562110 + Missense_Mutation SNP A A G TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr1:11562110A>G uc001ash.4 + 1 1199 c.1061A>G c.(1060-1062)tAt>tGt p.Y354C PTCHD2_uc001asi.1_Missense_Mutation_p.Y354C NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 354 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AAGATCTACTATGACGGCATG 0.607000 18 21 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr11:533874T>C uc001lpv.3 - 2 370 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 29 48 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216500 10216500 + Missense_Mutation SNP G G A TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr17:10216500G>A uc002gmk.1 - 29 4246 c.4156C>T c.(4156-4158)Cgc>Tgc p.R1386C NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1386 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCCTCTGTGCGCTGAATGGCG 0.617000 48 78 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 981217 981217 + Missense_Mutation SNP C C T TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr11:981217C>T uc001lst.2 + 5 836 c.623C>T c.(622-624)aCa>aTa p.T208I AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.T208I|AP2A2_uc001lsu.1_Missense_Mutation_p.T81I NM_001242837 NP_001229766 O94973 AP2A2_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA. 208 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) ACTGCAGCCACAAGTCTGATC 0.453000 4 8 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179609053 179609053 + Missense_Mutation SNP G G A TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr1:179609053G>A uc010pnp.2 + 9 2118 c.1600G>A c.(1600-1602)Gta>Ata p.V534I TDRD5_uc021pfm.1_Missense_Mutation_p.V534I|TDRD5_uc001gnf.2_Missense_Mutation_p.V534I|TDRD5_uc021pfn.1_Missense_Mutation_p.V534I|TDRD5_uc001gnh.2_Missense_Mutation_p.V89I NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 534 Tudor. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TCTCTGTTGTGTAAGGATTTC 0.423000 70 82 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89061103 89061103 + Silent SNP T T G TCGA-EL-A4JV-01A-11D-A257-08 TCGA-EL-A4JV-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67e336bf-e6ed-466f-893b-7982c750b896 16336994-a1df-4fb0-ad6a-b43ca0b9ed1a g.chr14:89061103T>G uc001xxb.3 + 0 374 c.33T>G c.(31-33)ccT>ccG p.P11P ZC3H14_uc001xww.3_Intron|ZC3H14_uc010twd.2_Intron|ZC3H14_uc010twe.2_Intron|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Intron|ZC3H14_uc001xxc.3_Silent_p.P9P NM_207662 NP_997545 Q6PJT7 ZC3HE_HUMAN Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 4, mRNA. 666 cytoplasm|nuclear speck RNA binding|protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 CATCACCACCTCTACCAATTT 0.378000 5 63 0 0 1 0 0