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 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr3:178928079G>A ENST00000263967.3 + 8 1514 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 41 52 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 4 31 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46801256 46801256 + Silent SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr6:46801256G>A ENST00000230588.4 + 11 1599 c.1590G>A c.(1588-1590)tcG>tcA p.S530S NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 530 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.S530S(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TCACTACCTCGAAGTCGCACA 0.517000 16 155 0 0 1 0 0 IGJ 3512 broad.mit.edu 37 4 71527853 71527853 + Silent SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr4:71527853G>A ENST00000254801.4 - 2 313 c.144C>T c.(142-144)tcC>tcT p.S48S IGJ_ENST00000543780.1_Silent_p.S64S|ENAM_ENST00000472903.1_3'UTR NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 48 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) TAGGATCTTCGGAAGAACGGA 0.393000 44 70 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr7:55233043G>T ENST00000275493.2 + 15 1970 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(15) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 132 0.0293803 0.0309543 1 1 0 MT-RNR2 0 broad.mit.edu 37 MT 2649 2649 + RNA SNP T T C TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chrM:2649T>C ENST00000387347.2 + 0 979 NR_039705.1 ctccacgagggttcagctgtc 0.478000 3 4 0 0 1 0 0 ZNF688 146542 broad.mit.edu 37 16 30581515 30581515 + Missense_Mutation SNP A A T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr16:30581515A>T ENST00000223459.6 - 3 1657 c.553T>A c.(553-555)Tgc>Agc p.C185S ZNF688_ENST00000395219.1_Missense_Mutation_p.C171S NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CAGTCCGTGCACACGTGGCGC 0.687000 10 13 0 0 1 0 0 VKORC1L1 154807 broad.mit.edu 37 7 65419069 65419069 + Missense_Mutation SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr7:65419069G>A ENST00000360768.3 + 3 418 c.313G>A c.(313-315)Gca>Aca p.A105T VKORC1L1_ENST00000434382.2_Missense_Mutation_p.S68N NM_173517.3 NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 105 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) AGGCATGACAGCAAGCGCTGT 0.537000 3 76 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157689077 157689077 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr4:157689077C>T ENST00000502773.1 - 5 1259 c.769G>A c.(769-771)Gtg>Atg p.V257M PDGFC_ENST00000542208.1_Missense_Mutation_p.V102M|PDGFC_ENST00000541126.1_Missense_Mutation_p.V94M|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000422544.2_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 257 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) CTTATGGACACTGAGAAGTTA 0.428000 15 159 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967457 41967457 + Missense_Mutation SNP G G T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr12:41967457G>T ENST00000298919.7 + 10 2484 c.2096G>T c.(2095-2097)cGc>cTc p.R699L PDZRN4_ENST00000539469.2_Missense_Mutation_p.R701L|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R959L Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 959 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CAGCGCCGTCGCCGTGAGTTC 0.537000 3 60 1 1 1 1 0 ATP8B4 79895 broad.mit.edu 37 15 50189590 50189590 + Missense_Mutation SNP A A C TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr15:50189590A>C ENST00000284509.6 - 23 2737 c.2596T>G c.(2596-2598)Tat>Gat p.Y866D ATP8B4_ENST00000559829.1_Missense_Mutation_p.Y866D NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 866 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATTCGGAAATAAGACCACCTT 0.413000 92 106 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72961928 72961928 + Missense_Mutation SNP C C A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr14:72961928C>A ENST00000553530.1 + 13 1130 c.923C>A c.(922-924)cCt>cAt p.P308H RGS6_ENST00000343854.6_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.P308H|RGS6_ENST00000355512.6_Missense_Mutation_p.P308H|RGS6_ENST00000407322.4_Missense_Mutation_p.P308H|RGS6_ENST00000555571.1_Missense_Mutation_p.P308H|RGS6_ENST00000404301.2_Missense_Mutation_p.P308H|RGS6_ENST00000553525.1_Missense_Mutation_p.P308H|RGS6_ENST00000554782.1_Missense_Mutation_p.P169H|RGS6_ENST00000556437.1_Missense_Mutation_p.P308H|RGS6_ENST00000402788.2_Missense_Mutation_p.P308H|RGS6_ENST00000434263.2_Missense_Mutation_p.P239H NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 308 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCATCCAACCCTTGGATCAGC 0.443000 108 143 1.56226e-53 1.88109e-53 1 1 0 SETD2 29072 broad.mit.edu 37 3 47155394 47155394 + Missense_Mutation SNP C C G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr3:47155394C>G ENST00000409792.3 - 5 4729 c.4687G>C c.(4687-4689)Ggc>Cgc p.G1563R NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1563 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GCTCTCAAGCCCCAGCCTTTC 0.428000 """N, F, S, Mis""" clear cell renal carcinoma 23 48 0 0 1 0 0 FANCC 2176 broad.mit.edu 37 9 98009714 98009714 + Splice_Site SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr9:98009714C>T ENST00000289081.3 - 3 504 c.250_splice c.e3+1 p.D84_splice FANCC_ENST00000375305.1_Splice_Site_p.D84_splice NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 84 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) TGATTCTTACCATATGCTAAA 0.323000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 20 67 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818021 77818021 + Missense_Mutation SNP A A C TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr4:77818021A>C ENST00000334306.2 - 1 981 c.982T>G c.(982-984)Tgg>Ggg p.W328G NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 328 AGCACCGACCAGGCGCGGATA 0.652000 16 30 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15654567 15654567 + Silent SNP T T C TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr12:15654567T>C ENST00000281171.4 + 5 1005 c.675T>C c.(673-675)ccT>ccC p.P225P PTPRO_ENST00000348962.2_Silent_p.P225P|PTPRO_ENST00000543886.1_Silent_p.P225P NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 225 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CTTATCCACCTCAAAATATTT 0.348000 17 38 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 32 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181549908 181549908 + Missense_Mutation SNP A A G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr1:181549908A>G ENST00000526775.1 + 6 1112 c.947A>G c.(946-948)tAc>tGc p.Y316C CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y316C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y267C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Y316C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y316C|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y267C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 316 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACTGTGCTGTACAATGTGAGT 0.552000 3 36 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4792851 4792851 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr19:4792851C>T ENST00000269856.3 + 1 1124 c.985C>T c.(985-987)Cgt>Tgt p.R329C AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 329 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 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) CATGGAGCTGCGTCACCAGGG 0.607000 22 33 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80367258 80367258 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr17:80367258C>T ENST00000313056.5 - 4 560 c.409G>A c.(409-411)Gga>Aga p.G137R OGFOD3_ENST00000329197.5_Missense_Mutation_p.G137R NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CCGTCAGATCCTCCCAGGGAG 0.468000 3 54 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274343 39274343 + Silent SNP A A G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr17:39274343A>G ENST00000391413.2 - 1 263 c.225T>C c.(223-225)tgT>tgC p.C75C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 75 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGGGCGACAGCAGCTGG 0.657000 4 109 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 28 54 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770047 37770047 + Missense_Mutation SNP C C T rs143903281 TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr22:37770047C>T ENST00000402918.1 - 3 2313 c.1528G>A c.(1528-1530)Ggc>Agc p.G510S ELFN2_ENST00000349653.3_Missense_Mutation_p.G510S|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 510 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CCGTCCCCGCCGGCGCCTGTG 0.662000 30 33 0 0 1 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027273 26027273 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr6:26027273C>T ENST00000377364.3 - 1 207 c.208G>A c.(208-210)Gcc>Acc p.A70T NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 70 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.A70S(1) large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 TAGGTCACGGCGTCCCGGATC 0.577000 OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 56 0 0 1 0 0 KXD1 79036 broad.mit.edu 37 19 18679431 18679431 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr19:18679431C>T ENST00000602094.1 + 5 1981 c.521C>T c.(520-522)aCg>aTg p.T174M KXD1_ENST00000595073.1_Missense_Mutation_p.T174M|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000539106.1_Missense_Mutation_p.T174M|KXD1_ENST00000601630.1_Missense_Mutation_p.T193M|KXD1_ENST00000540691.1_Missense_Mutation_p.T174M|KXD1_ENST00000599319.1_Missense_Mutation_p.T174M|KXD1_ENST00000222307.4_Missense_Mutation_p.T174M Q9BQD3 CS050_HUMAN KxDL motif containing 1 174 protein binding GAGGAGATGACGGGCGAATAG 0.652000 15 29 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35208200 35208200 + Missense_Mutation SNP C C G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr6:35208200C>G ENST00000274938.7 + 9 1002 c.1002C>G c.(1000-1002)aaC>aaG p.N334K SCUBE3_ENST00000394681.1_Missense_Mutation_p.N350K NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 334 EGF-like 8; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 TATGTGTCAACACACCAGGAA 0.507000 8 75 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94918892 94918892 + Missense_Mutation SNP G G T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr5:94918892G>T ENST00000380009.4 + 4 894 c.689G>T c.(688-690)tGg>tTg p.W230L NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 230 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TCTCTTTATTGGCTTGAAAAA 0.313000 13 29 2.32078e-09 2.73853e-09 1 1 0 NIPSNAP3B 55335 broad.mit.edu 37 9 107531159 107531159 + Missense_Mutation SNP G G A rs141198887 byFrequency TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr9:107531159G>A ENST00000374762.3 + 3 358 c.287G>A c.(286-288)cGa>cAa p.R96Q NIPSNAP3B_ENST00000461177.1_3'UTR NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) 96 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 TTTGCTCATCGAGCTGAAGTT 0.343000 7 31 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46691864 46691864 + Missense_Mutation SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr17:46691864G>A ENST00000239144.4 - 1 437 c.203C>T c.(202-204)cCc>cTc p.P68L HOXB8_ENST00000576562.1_Missense_Mutation_p.P68L|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 68 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 CTGCTGGTAGGGAGCCGTGGA 0.672000 23 28 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154062058 154062058 + Nonsense_Mutation SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr1:154062058G>A ENST00000368559.3 - 16 2271 c.2200C>T c.(2200-2202)Cga>Tga p.R734* NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734* NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 734 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTTCCAATTCGGAATGTGAGA 0.423000 29 53 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167674704 167674704 + Missense_Mutation SNP A A G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr5:167674704A>G ENST00000519204.1 + 26 6515 c.6397A>G c.(6397-6399)Ata>Gta p.I2133V TENM2_ENST00000518659.1_Missense_Mutation_p.I2254V|TENM2_ENST00000520394.1_Missense_Mutation_p.I2015V|TENM2_ENST00000403607.2_Missense_Mutation_p.I2078V|TENM2_ENST00000545108.1_Missense_Mutation_p.I2253V teneurin transmembrane protein 2 CCGGGATCGGATAACCAGACT 0.527000 27 45 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50731664 50731664 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr18:50731664C>T ENST00000442544.2 + 10 2268 c.1652C>T c.(1651-1653)cCt>cTt p.P551L DCC_ENST00000581580.1_Missense_Mutation_p.P206L|DCC_ENST00000412726.1_Missense_Mutation_p.P399L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 551 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGGAACCCCCTGCCTATGCA 0.458000 59 148 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 81 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53276233 53276233 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr3:53276233C>T ENST00000462138.1 - 2 221 c.133G>A c.(133-135)Gca>Aca p.A45T TKT_ENST00000296289.6_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.A45T|TKT_ENST00000423516.1_Missense_Mutation_p.A45T P29401 TKT_HUMAN transketolase 45 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity p.A45T(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) ATGATCTCTGCGGCGCTGCAG 0.582000 3 79 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179435704 179435704 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr2:179435704C>T ENST00000589042.1 - 326 75379 c.75155G>A c.(75154-75156)cGt>cAt p.R25052H TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16112H|TTN_ENST00000342992.6_Missense_Mutation_p.R22484H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15987H|TTN_ENST00000591111.1_Missense_Mutation_p.R23411H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16179H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23411 Fibronectin type-III 82. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCATCCAACGGCCCTCAGG 0.408000 83 123 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14083696 14083696 + Silent SNP G G C TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr19:14083696G>C ENST00000254325.4 - 9 1407 c.1173C>G c.(1171-1173)ggC>ggG p.G391G NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 391 Gly-rich. immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) cgcctcccccgccgccgccgc 0.726000 2 9 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681737 161681737 + Silent SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr1:161681737G>A ENST00000540926.1 + 5 824 c.531G>A c.(529-531)gcG>gcA p.A177A FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000540521.1_Silent_p.A54A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000236938.6_Silent_p.A188A Q7L513 FCRLA_HUMAN Fc receptor-like A 171 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TGTTTCCAGCGCCAATTCTCA 0.527000 6 293 0 0 1 0 0 VEGFB 7423 broad.mit.edu 37 11 64005040 64005040 + Missense_Mutation SNP A A C TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr11:64005040A>C ENST00000309422.2 + 6 855 c.559A>C c.(559-561)Acc>Ccc p.T187P VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 187 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 CAGCGCCCTGACCCCCGGACC 0.706000 4 9 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47333730 47333730 + RNA SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr1:47333730G>A ENST00000505841.1 - 0 958 NR_002788.2 AGCAGTAGTTGTGGTGTCATG 0.438000 17 14 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142258943 142258943 + Missense_Mutation SNP A A G TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr5:142258943A>G ENST00000378004.3 + 4 672 c.317A>G c.(316-318)gAg>gGg p.E106G ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E106G NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 106 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACCAGATTGAGAATGCCAGC 0.458000 3 125 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99022522 99022522 + Missense_Mutation SNP C C A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr7:99022522C>A ENST00000292478.4 - 6 1883 c.1633G>T c.(1633-1635)Gtc>Ttc p.V545F PTCD1_ENST00000555673.1_Missense_Mutation_p.V594F|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.V594F NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TTTGCCAGGACCGGCAACAGC 0.597000 27 32 1.74197e-06 1.97647e-06 1 1 0 LRFN2 57497 broad.mit.edu 37 6 40400680 40400680 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr6:40400680C>T ENST00000338305.6 - 2 715 c.173G>A c.(172-174)cGc>cAc p.R58H NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 58 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCGCCCAGGCGCAGCTCCAC 0.602000 33 41 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103290661 103290661 + Missense_Mutation SNP G G A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr13:103290661G>A ENST00000376052.3 + 15 1925 c.1909G>A c.(1909-1911)Gca>Aca p.A637T TPP2_ENST00000376065.4_Missense_Mutation_p.A637T P29144 TPP2_HUMAN tripeptidyl peptidase II 637 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTTATAGCAGCAAAGTAAGT 0.393000 4 107 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038852 75038852 + Missense_Mutation SNP C C A TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr1:75038852C>A ENST00000326665.5 - 14 2760 c.2542G>T c.(2542-2544)Gtc>Ttc p.V848F C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 848 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGCCTTCTGACCCCTTCTGCT 0.532000 23 27 1.50538e-07 1.74152e-07 1 1 0 OR4D10 390197 broad.mit.edu 37 11 59245678 59245678 + Missense_Mutation SNP C C T TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr11:59245678C>T ENST00000530162.1 + 1 833 c.776C>T c.(775-777)gCc>gTc p.A259V NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TATGTCTATGCCCGGCCCTTC 0.562000 14 294 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78430888 78430888 + Frame_Shift_Del DEL A A - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr1:78430888delA ENST00000370767.1 - 8 588 c.501delT c.(499-501)atfs p.I167fs FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I188fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I167fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 167 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CTTTTTCAACAATCTGGTCCA 0.393 """F, N""" oligodendroglioma 53 7 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 9 98 --- --- --- --- KIFC2 90990 broad.mit.edu 37 8 145692175 145692176 + Frame_Shift_Del DEL AG AG - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr8:145692175_145692176delAG ENST00000301332.2 + 2 509_510 c.132_133delAG c.(130-135)ccacfs p.PD44fs NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 44 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCCGGCGCCCAGACCTGCCCGC 0.777 2 4 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 148 --- --- --- --- MIR337 0 broad.mit.edu 37 14 101340843 101340843 + RNA DEL G G - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr14:101340843delG ENST00000362281.1 + 0 14 NR_029889.1 GTCAGTAGTTGGGGGGTGGGA 0.602 2 4 --- --- --- --- MRC2 9902 broad.mit.edu 37 17 60757562 60757564 + In_Frame_Del DEL ACG ACG - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr17:60757562_60757564delACG ENST00000303375.5 + 15 2732_2734 c.2330_2332delACG c.(2329-2334)cac>c p.HD777del NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 777 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CGGAGCCGGCACGACGACGACGA 0.645 7 104 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-DU-8164-01A-11D-2253-08 TCGA-DU-8164-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67139b71-a2d8-4a49-a684-51a4804e294a 79381346-232e-46b8-a3fa-c93df24692ca g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 4 9 --- --- --- ---