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 MUC16 94025 broad.mit.edu 37 19 8999459 8999459 + Missense_Mutation SNP G G C TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr19:8999459G>C ENST00000397910.4 - 56 40919 c.40716C>G c.(40714-40716)agC>agG p.S13572R MUC16_ENST00000380951.5_Missense_Mutation_p.S213R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13574 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTCAGCTGGCTCAGCTCCC 0.567000 4 263 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816227 23816227 + Splice_Site SNP G G T TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr4:23816227G>T ENST00000264867.2 - 8 998 c.877_splice c.e8-1 p.G293_splice PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 293 Interaction with PPARG. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GTGGAGTTAGGCCTAAGGCAA 0.393000 7 26 0.00198382 0.00198382 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70319087 70319087 + Missense_Mutation SNP C C T TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr11:70319087C>T ENST00000338508.4 - 33 5439 c.5440G>A c.(5440-5442)Gat>Aat p.D1814N SHANK2_ENST00000423696.2_Missense_Mutation_p.D1434N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D1218N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D1217N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1434 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGACTGCCATCGATCTCATTG 0.478000 4 107 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 6 60 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233785226 233785226 + Missense_Mutation SNP G G A TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr2:233785226G>A ENST00000264051.3 - 5 874 c.596C>T c.(595-597)gCa>gTa p.A199V NGEF_ENST00000373552.4_Missense_Mutation_p.A107V|NGEF_ENST00000409079.1_Missense_Mutation_p.A107V NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 199 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTCTATTTCTGCATCCTGTTG 0.512000 4 78 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 34 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 7 0.00024832 0.000270895 1 1 0 ASUN 55726 broad.mit.edu 37 12 27067050 27067050 + Silent SNP T T C TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr12:27067050T>C ENST00000261191.7 - 13 1967 c.1431A>G c.(1429-1431)ttA>ttG p.L477L ASUN_ENST00000539625.1_Silent_p.L376L NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 477 cell division|mitosis|regulation of mitotic cell cycle protein binding TAACACTGGCTAATGGAACTA 0.289000 3 43 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 6 60 0 0 1 0 0 FOXC1 2296 broad.mit.edu 37 6 1612142 1612144 + In_Frame_Del DEL GCG GCG - TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr6:1612142_1612144delGCG ENST00000380874.2 + 1 1462_1464 c.1462_1464delGCG c.(1462-1464)del p.A495del NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 495 Poly-Ala. anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) CTTGGCGAGCgcggcggcggcgg 0.709 2 4 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 7 58 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556397 90556398 + RNA INS - - TTTTT TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr6:90556397_90556398insTTTTT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTCTAAtttccttttttttttt 0.421 4 8 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T T - TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr8:48866910delT ENST00000314191.2 - 5 552 c.496delA c.(496-498)tafs p.I166fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTATCTGGTATTTTTTTTTTC 0.264 Non-homologous end-joining 2 4 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 9 133 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-WB-A80L-01A-11D-A35I-08 TCGA-WB-A80L-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af3804b-6214-4d23-ba0a-3b5d8f3243fd 4eec4f36-189f-462a-bcd1-462b39b578b2 g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- ---