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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut HIVEP3 59269 broad.mit.edu 37 1 42047570 42047570 + Missense_Mutation SNP G G A rs141506685 byFrequency TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:42047570G>A uc001cgz.3 - 4 4112 c.2899C>T c.(2899-2901)CGC>TGC p.R967C HIVEP3_uc001cha.3_Missense_Mutation_p.R967C|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 967 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGTTTGGGGCGCATGTCAGAT 0.612 NA 4 110 0 0 0 0 IPO13 9670 broad.mit.edu 37 1 44433123 44433123 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:44433123G>A uc001ckx.2 + 19 3545 c.2750G>A c.(2749-2751)CGC>CAC p.R917H IPO13_uc001cky.2_Missense_Mutation_p.R135H NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 917 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCCTCTGCCCGCCTCAGCCCT 0.617 NA 8 55 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152188024 152188024 + Silent SNP C C T rs142170860 TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:152188024C>T uc001ezt.1 - 3 6157 c.6081G>A c.(6079-6081)TCG>TCA p.S2027S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2027 22 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCACAGCTCGATGACTGTC 0.562 NA 56 618 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158621162 158621162 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:158621162G>A uc001fst.1 - 24 3671 c.3472C>T c.(3472-3474)CGG>TGG p.R1158W NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1158 Spectrin 11. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTTACCTGCCGGATTTGAGCT 0.458 NA 21 194 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215847770 215847770 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:215847770G>A uc001hku.1 - 63 13870 c.13483C>T c.(13483-13485)CGT>TGT p.R4495C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4495 Fibronectin type-III 30.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTAAAATCACGATAGCGTGTT 0.458 NA HNSCC(13;0.011) 28 165 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 96014690 96014690 + Silent SNP C C A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr10:96014690C>A uc001kjk.2 + 11 4072 c.3438C>A c.(3436-3438)TCC>TCA p.S1146S PLCE1_uc010qnx.1_Silent_p.S1146S|PLCE1_uc001kjm.2_Silent_p.S838S NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1146 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) CCCTCCCTTCCAGAAGAGCCC 0.532 NA 21 200 2.71e-06 3.31e-06 1 0 MUC5B 727897 broad.mit.edu 37 11 1262890 1262890 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr11:1262890C>T uc009ycr.1 + 47 6985 c.6859C>T c.(6859-6861)CGG>TGG p.R2287W MUC5B_uc001ltb.2_Missense_Mutation_p.R1597W NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1594 7 X Cys-rich subdomain repeats.|Cys-rich subdomain 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTACAGGATCCGGGTCCTCTG 0.637 NA 4 27 0 0 0 0 ZNF215 7762 broad.mit.edu 37 11 6977595 6977595 + Nonsense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr11:6977595C>T uc001mey.2 + 7 1975 c.1387C>T c.(1387-1389)CAA>TAA p.Q463* ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Nonsense_Mutation_p.Q225*|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 463 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CAATTTCTATCAATGTGTTAA 0.398 NA 5 65 0 0 0 0 FSHB 2488 broad.mit.edu 37 11 30255210 30255210 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr11:30255210G>A uc001msl.2 + 3 322 c.253G>A c.(253-255)GCT>ACT p.A85T FSHB_uc001msm.2_Missense_Mutation_p.A85T|FSHB_uc001msn.2_Missense_Mutation_p.A85T NM_000510 NP_000501 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 85 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity ovary(3) 3 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) GCCCGGCTGTGCTCACCATGC 0.527 NA 6 63 0 0 0 0 OR1S1 219959 broad.mit.edu 37 11 57982768 57982768 + Missense_Mutation SNP C C A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr11:57982768C>A uc010rkc.1 + 1 552 c.552C>A c.(550-552)CAC>CAA p.H184Q NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) TCTGTAACCACAACACTCTCC 0.438 NA 35 117 1.22e-17 1.53e-17 1 0 MEN1 4221 broad.mit.edu 37 11 64572117 64572117 + Nonsense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr11:64572117G>A uc001obj.2 - 10 1610 c.1537C>T c.(1537-1539)CAG>TAG p.Q513* MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q473*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q508*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q508*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q513*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q513* NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 513 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 ACTGCACCCTGGCCGGTGCCC 0.736 NA D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 3 32 0 0 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50191005 50191005 + Missense_Mutation SNP C C A rs78047311 TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr12:50191005C>A uc009zlk.2 - 8 840 c.638G>T c.(637-639)CGG>CTG p.R213L NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 209 Pro-rich. central_nervous_system(1) 1 GCCTGGAGGCCGCCAGGGGGT 0.667 NA 5 55 1.24e-05 1.51e-05 1 0 C12orf56 115749 broad.mit.edu 37 12 64661051 64661051 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr12:64661051G>A uc001ssa.3 - 11 1301 c.1301C>T c.(1300-1302)CCA>CTA p.P434L uc001srx.2_Intron|C12orf56_uc001sry.2_Missense_Mutation_p.P176L|C12orf56_uc001srz.2_Missense_Mutation_p.P76L NM_001099676 NP_001093146 Q8IXR9 CL056_HUMAN hypothetical protein LOC115749 597 0 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) CTGCAAGGCTGGCATGTGAAT 0.353 NA 4 17 0 0 0 0 SFRS9 8683 broad.mit.edu 37 12 120901793 120901793 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr12:120901793G>A uc001tyi.2 - 3 628 c.482C>T c.(481-483)GCC>GTC p.A161V NM_003769 NP_003760 Q13242 SRSF9_HUMAN splicing factor, arginine/serine-rich 9 161 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTACGCAGGGCATATTCCAT 0.488 NA 5 192 0 0 0 0 NUPL1 9818 broad.mit.edu 37 13 25875965 25875965 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr13:25875965C>T uc001uqi.2 + 1 300 c.54C>T c.(52-54)GCC>GCT p.A18A NUPL1_uc001uqg.1_Silent_p.A18A|NUPL1_uc001uqj.2_Silent_p.A18A NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 18 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) CCACCGTGGCCGCCGGCGGGA 0.667 NA 4 34 0 0 0 0 GPC5 2262 broad.mit.edu 37 13 92346021 92346021 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr13:92346021C>T uc010tif.1 + 3 1272 c.906C>T c.(904-906)CTC>CTT p.L302L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 302 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGGAAGAACTCTCGGATGCAA 0.493 NA 17 76 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20296100 20296100 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr14:20296100C>T uc010tkv.1 + 1 493 c.493C>T c.(493-495)CGC>TGC p.R165C NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTCATCCTCCGCTTGCCTTT 0.517 NA 14 239 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23891477 23891477 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr14:23891477G>A uc001wjx.2 - 25 3263 c.3157C>T c.(3157-3159)CGG>TGG p.R1053W NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1053 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCAGCTTCCGCTTCGCTCGC 0.582 NA 9 61 0 0 0 0 PRKCH 5583 broad.mit.edu 37 14 61952305 61952305 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr14:61952305G>A uc001xfn.2 + 10 1669 c.1364G>A c.(1363-1365)CGA>CAA p.R455Q PRKCH_uc010tsa.1_Missense_Mutation_p.R294Q|PRKCH_uc010tsb.1_Missense_Mutation_p.R23Q NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 455 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GATGAAGCACGAGCTCGCTTC 0.433 NA 40 215 0 0 0 0 ABCD4 5826 broad.mit.edu 37 14 74757040 74757040 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr14:74757040C>T uc001xpr.2 - 12 1433 c.1281G>A c.(1279-1281)AAG>AAA p.K427K ABCD4_uc001xps.2_Silent_p.K268K|ABCD4_uc001xpt.2_Silent_p.K268K|ABCD4_uc010tur.1_Silent_p.K323K|ABCD4_uc001xpu.2_Silent_p.K164K NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 427 ABC transporter.|ATP (Potential). ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) GCAAGGAGGTCTTGCCAGTGC 0.627 NA OREG0022800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 128 0 0 0 0 CASC5 57082 broad.mit.edu 37 15 40954309 40954309 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr15:40954309C>T uc010bbs.1 + 27 7113 c.6952C>T c.(6952-6954)CTG>TTG p.L2318L CASC5_uc010bbt.1_Silent_p.L2292L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 2318 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TAAAGTGCCACTGGAGAACAA 0.328 NA 17 84 0 0 0 0 ABHD2 11057 broad.mit.edu 37 15 89698752 89698752 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr15:89698752C>T uc002bnj.2 + 10 1442 c.525C>T c.(523-525)CGC>CGT p.R175R ABHD2_uc002bnk.2_Silent_p.R175R NM_007011 NP_008942 P08910 ABHD2_HUMAN alpha/beta hydrolase domain containing protein 175 integral to membrane carboxylesterase activity ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) CCTCGCCACGCATGTTCACCT 0.483 NA 27 96 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578503 7578503 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr17:7578503C>T uc002gim.2 - 5 621 c.427G>A c.(427-429)GTG>ATG p.V143M TP53_uc002gig.1_Missense_Mutation_p.V143M|TP53_uc002gih.2_Missense_Mutation_p.V143M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V11M|TP53_uc010cng.1_Missense_Mutation_p.V11M|TP53_uc002gii.1_Missense_Mutation_p.V11M|TP53_uc010cnh.1_Missense_Mutation_p.V143M|TP53_uc010cni.1_Missense_Mutation_p.V143M|TP53_uc002gij.2_Missense_Mutation_p.V143M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V50M|TP53_uc002gio.2_Missense_Mutation_p.V11M|TP53_uc010vug.1_Missense_Mutation_p.V104M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 143 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V143M(16)|p.V143A(14)|p.0?(7)|p.V143E(4)|p.V143L(4)|p.V143V(2)|p.V143fs*27(2)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACAGCTGCACAGGGCAGGTC 0.587 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 46 0 0 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34497333 34497333 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr17:34497333C>T uc002hky.2 - 9 733 c.583G>A c.(583-585)GCC>ACC p.A195T uc002khr.2_5'Flank|uc002hlc.2_5'Flank NM_001001417 NP_001001417 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3B 195 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGAACAAGGCGGCGATGTGG 0.602 NA 12 191 0 0 0 0 GRIN2C 2905 broad.mit.edu 37 17 72851194 72851194 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr17:72851194G>A uc002jlt.1 - 2 194 c.38C>T c.(37-39)TCG>TTG p.S13L GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S13L|GRIN2C_uc002jlv.1_Missense_Mutation_p.S13L NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 13 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ACCGAAGAGCGAGGTGAGCAA 0.682 NA 12 35 0 0 0 0 NETO1 81832 broad.mit.edu 37 18 70532113 70532113 + Silent SNP T T C TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr18:70532113T>C uc002lkw.2 - 3 434 c.150A>G c.(148-150)GGA>GGG p.G50G NETO1_uc002lkx.1_Silent_p.G49G|NETO1_uc002lky.1_Silent_p.G50G|NETO1_uc002lkz.2_Silent_p.G49G NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 50 CUB 1.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TAAAGATACCTCCCTCTGCAT 0.423 NA 8 40 0 0 0 0 MED16 10025 broad.mit.edu 37 19 873494 873494 + Missense_Mutation SNP C C G TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:873494C>G uc002lqd.1 - 11 2011 c.1860G>C c.(1858-1860)TGG>TGC p.W620C MED16_uc010drw.1_Missense_Mutation_p.W445C|MED16_uc002lqe.2_Missense_Mutation_p.W609C|MED16_uc002lqf.2_Missense_Mutation_p.W609C|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.W540C|MED16_uc010xfx.1_Missense_Mutation_p.W465C|MED16_uc010xfy.1_Missense_Mutation_p.W197C NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 620 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCGCCCACCCACTGCAAGA 0.597 NA 4 84 0 0 0 0 BEST2 54831 broad.mit.edu 37 19 12866479 12866479 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:12866479C>T uc002mux.2 + 6 765 c.765C>T c.(763-765)CGC>CGT p.R255R NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 255 Extracellular (Potential). membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 TCATTGGTCGCCAGTTCCTGG 0.607 NA 16 88 0 0 0 0 MEGF8 1954 broad.mit.edu 37 19 42847639 42847639 + Silent SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:42847639G>A uc002otl.3 + 9 2159 c.1524G>A c.(1522-1524)GCG>GCA p.A508A MEGF8_uc002otm.3_Silent_p.A49A NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 508 Extracellular (Potential).|Kelch 5. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GCCGAGCAGCGCCTCCCAGTG 0.642 NA 7 59 0 0 0 0 LIPE 3991 broad.mit.edu 37 19 42914528 42914528 + Silent SNP G G C rs151324837 byFrequency TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:42914528G>C uc002otr.2 - 2 1627 c.1350C>G c.(1348-1350)ACC>ACG p.T450T uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.T195T NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 450 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) GGAAGTCGGCGGTGAGCCCCT 0.667 NA 3 26 0 0 0 0 MARK4 57787 broad.mit.edu 37 19 45762439 45762439 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:45762439G>A uc002pbb.1 + 2 249 c.244G>A c.(244-246)GGT>AGT p.G82S MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.G82S Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 82 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CATCCTCACTGGTCGGGAGGT 0.617 NA 3 27 0 0 0 0 MYH14 79784 broad.mit.edu 37 19 50805052 50805052 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:50805052C>T uc002prr.1 + 38 5528 c.5481C>T c.(5479-5481)GCC>GCT p.A1827A MYH14_uc010enu.1_Silent_p.A1868A|MYH14_uc002prq.1_Silent_p.A1835A|MYH14_uc010ycb.1_Silent_p.A178A|MYH14_uc002prs.1_Silent_p.A178A NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1827 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGGCCCGTGCCCGCCACAAGA 0.637 NA 6 33 0 0 0 0 C19orf51 352909 broad.mit.edu 37 19 55670685 55670685 + Silent SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr19:55670685G>A uc002qji.1 - 12 1405 c.1371C>T c.(1369-1371)TCC>TCT p.S457S TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Silent_p.S272S|C19orf51_uc002qjj.1_Silent_p.S504S|C19orf51_uc002qjk.1_Silent_p.S403S|C19orf51_uc002qjl.1_Silent_p.S524S Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 457 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTGATTCCTGGGACTTGCAGA 0.612 NA 9 51 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206265 160206265 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr2:160206265G>A uc002uao.2 - 28 5169 c.4817C>T c.(4816-4818)GCT>GTT p.A1606V BAZ2B_uc002uap.2_Missense_Mutation_p.A1570V NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 AGGATTCTGAGCAGAAGATCC 0.423 NA 3 62 0 0 0 0 EVX2 344191 broad.mit.edu 37 2 176947144 176947144 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr2:176947144G>A uc010zeu.1 - 2 647 c.461C>T c.(460-462)ACG>ATG p.T154M NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 154 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGCCGACGTCGTGGTGCCGGC 0.711 NA 4 30 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179411521 179411521 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr2:179411521C>T uc010zfg.1 - 290 87154 c.86930G>A c.(86929-86931)CGT>CAT p.R28977H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22672H|TTN_uc010zfi.1_Missense_Mutation_p.R22605H|TTN_uc010zfj.1_Missense_Mutation_p.R22480H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29904 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACTGGCTTACGCTCTATGAT 0.498 NA 12 59 0 0 0 0 DNMT3B 1789 broad.mit.edu 37 20 31385069 31385069 + Missense_Mutation SNP G G T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr20:31385069G>T uc002wyc.2 + 14 1775 c.1454G>T c.(1453-1455)CGA>CTA p.R485L DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R465L|DNMT3B_uc002wye.2_Missense_Mutation_p.R465L|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R423L|DNMT3B_uc010zua.1_Missense_Mutation_p.R389L|DNMT3B_uc002wyf.2_Missense_Mutation_p.R477L|DNMT3B_uc002wyg.2_Missense_Mutation_p.R184L NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 485 PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 TGCGAGGGCCGAGAGCTGCTG 0.587 NA 16 117 1.36e-06 1.68e-06 1 0 ZMYND8 23613 broad.mit.edu 37 20 45839455 45839455 + Missense_Mutation SNP G G A rs146133202 TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr20:45839455G>A uc002xta.1 - 22 3766 c.3512C>T c.(3511-3513)ACG>ATG p.T1171M ZMYND8_uc010ghq.1_Nonsense_Mutation_p.R808*|ZMYND8_uc010ghr.1_Missense_Mutation_p.T1101M|ZMYND8_uc002xst.1_Missense_Mutation_p.T1053M|ZMYND8_uc002xsu.1_Missense_Mutation_p.T1072M|ZMYND8_uc002xsv.1_Missense_Mutation_p.T1099M|ZMYND8_uc002xsw.1_Missense_Mutation_p.T905M|ZMYND8_uc002xsx.1_Missense_Mutation_p.T877M|ZMYND8_uc002xsy.1_Missense_Mutation_p.T1128M|ZMYND8_uc002xsz.1_Missense_Mutation_p.T1090M|ZMYND8_uc010zxy.1_Missense_Mutation_p.T1226M|ZMYND8_uc002xtb.1_Missense_Mutation_p.T1173M|ZMYND8_uc002xss.2_Missense_Mutation_p.T1171M|ZMYND8_uc010zxz.1_Missense_Mutation_p.T1039M|ZMYND8_uc002xtc.1_Missense_Mutation_p.T1145M|ZMYND8_uc002xtd.1_Missense_Mutation_p.T1120M|ZMYND8_uc002xte.1_Missense_Mutation_p.T1153M|ZMYND8_uc010zya.1_Missense_Mutation_p.T1199M|ZMYND8_uc002xtf.1_Missense_Mutation_p.T1219M|ZMYND8_uc002xsr.1_Missense_Mutation_p.T270M NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1171 Interacts with PRKCB1. protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GAGGCTCTTCGTGCTGGTACT 0.542 NA 10 89 0 0 0 0 HIC2 23119 broad.mit.edu 37 22 21799898 21799898 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr22:21799898C>T uc002zur.3 + 3 944 c.714C>T c.(712-714)AGC>AGT p.S238S HIC2_uc002zus.3_Silent_p.S238S NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 238 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) ACGGGAGCAGCGGGGGCTGCG 0.697 NA 6 34 0 0 0 0 C22orf36 388886 broad.mit.edu 37 22 24982181 24982181 + Silent SNP C C T rs111248278 TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr22:24982181C>T uc003aaq.2 - 4 650 c.621G>A c.(619-621)CTG>CTA p.L207L GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA NM_207644 NP_997527 Q2VPJ9 LRC6X_HUMAN hypothetical protein LOC388886 207 LRR 2. 0 TGAGGCGGGGCAGCGCCCACA 0.652 NA 27 95 0 0 0 0 CHL1 10752 broad.mit.edu 37 3 369940 369940 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr3:369940C>T uc003bou.2 + 5 559 c.288C>T c.(286-288)AAC>AAT p.N96N CHL1_uc003bot.2_Silent_p.N96N|CHL1_uc003bow.1_Silent_p.N96N|CHL1_uc011asi.1_Silent_p.N96N NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 96 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GGATCCCAAACGAGGGGCACA 0.388 NA 14 80 0 0 0 0 FGD5 152273 broad.mit.edu 37 3 14942543 14942543 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr3:14942543G>A uc003bzc.2 + 9 3349 c.3239G>A c.(3238-3240)CGT>CAT p.R1080H FGD5_uc011avk.1_Missense_Mutation_p.R1080H|FGD5_uc003bzd.2_Missense_Mutation_p.R158H NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1080 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GTCACAGACCGTGCCAACGAC 0.607 NA 22 101 0 0 0 0 WDR49 151790 broad.mit.edu 37 3 167240197 167240197 + Nonsense_Mutation SNP T T A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr3:167240197T>A uc003fev.1 - 12 1930 c.1624A>T c.(1624-1626)AAG>TAG p.K542* WDR49_uc003feu.1_Nonsense_Mutation_p.K367*|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 542 large_intestine(1)|ovary(1)|skin(1) 3 GAAATTTCCTTTTGAATCTCA 0.318 NA 21 40 0 0 0 0 ENPEP 2028 broad.mit.edu 37 4 111398075 111398075 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr4:111398075G>A uc003iab.3 + 1 847 c.505G>A c.(505-507)GTG>ATG p.V169M NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 169 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GCAGGAGTACGTGGTGGTCGA 0.632 NA 31 165 0 0 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160251524 160251524 + Silent SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr4:160251524G>A uc003iqg.3 + 7 1168 c.858G>A c.(856-858)GAG>GAA p.E286E NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 286 N-terminal Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGGTGGAAGAGCATTCAGTAG 0.313 NA 17 88 0 0 0 0 HAND2 9464 broad.mit.edu 37 4 174449919 174449919 + Silent SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr4:174449919G>A uc003ith.1 - 1 1460 c.522C>T c.(520-522)ACC>ACT p.T174T NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Nonsense_Mutation_p.R140*|HAND2_uc010ire.1_Silent_p.T174T NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 174 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CTTTCACGTCGGTCTTCTTGA 0.627 NA 14 34 0 0 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114571 27114571 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr6:27114571C>T uc003nix.1 - 1 49 c.7G>A c.(7-9)GAA>AAA p.E3K HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080593 NP_542160 O60814 H2B1K_HUMAN histone cluster 1, H2bk 3 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 TTCGCTGGTTCCGGCATGTTG 0.567 NA 8 84 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37988614 37988614 + Missense_Mutation SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr7:37988614G>A uc003tfp.2 + 2 821 c.802G>A c.(802-804)GTC>ATC p.V268I EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.V87I NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 148 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 GCAGATCACCGTCCAGGAGTG 0.493 NA 7 85 0 0 0 0 POM121 9883 broad.mit.edu 37 7 72418901 72418901 + Silent SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr7:72418901G>A uc010lam.1 + 16 3933 c.2892G>A c.(2890-2892)CCG>CCA p.P964P NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_3'UTR|NSUN5P2_uc003twn.2_3'UTR|NSUN5P2_uc003two.2_3'UTR|NSUN5P2_uc003twq.2_3'UTR|NSUN5P2_uc010lan.1_3'UTR|NSUN5P2_uc003twp.2_3'UTR NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1003 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) AACACAGCCCGAGGAAGGGAC 0.488 NA 14 85 0 0 0 0 ZNF777 27153 broad.mit.edu 37 7 149152729 149152729 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr7:149152729C>T uc003wfv.2 - 2 548 c.385G>A c.(385-387)GTT>ATT p.V129I NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGGAGTGAACGGGGGCTTCC 0.617 NA 23 174 0 0 0 0 ZNF775 285971 broad.mit.edu 37 7 150094922 150094922 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr7:150094922C>T uc003whf.1 + 3 1478 c.1353C>T c.(1351-1353)TGC>TGT p.C451C LOC728743_uc003whg.2_5'Flank NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 451 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAACGAGTGCGGCAAGAGCT 0.731 NA 5 14 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585202 70585202 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr8:70585202C>T uc003xyl.2 - 10 3156 c.2449G>A c.(2449-2451)GCA>ACA p.A817T SLCO5A1_uc010lzb.2_Missense_Mutation_p.A762T|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 817 integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTCTGTGCTGCGCACTGGATC 0.617 NA 11 79 0 0 0 0 HNF4G 3174 broad.mit.edu 37 8 76471035 76471035 + Splice_Site SNP G G A TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr8:76471035G>A uc003yaq.2 + 9 1016 c.746_splice c.e9-1 p.D249_splice HNF4G_uc003yar.2_Splice_Site_p.D286_splice NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TCCTTTGTTAGATGCAAAAGG 0.353 NA 13 28 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144993755 144993755 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr8:144993755C>T uc003zaf.1 - 32 10815 c.10645G>A c.(10645-10647)GCC>ACC p.A3549T PLEC_uc003zab.1_Missense_Mutation_p.A3412T|PLEC_uc003zac.1_Missense_Mutation_p.A3416T|PLEC_uc003zad.2_Missense_Mutation_p.A3412T|PLEC_uc003zae.1_Missense_Mutation_p.A3380T|PLEC_uc003zag.1_Missense_Mutation_p.A3390T|PLEC_uc003zah.2_Missense_Mutation_p.A3398T|PLEC_uc003zaj.2_Missense_Mutation_p.A3439T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3549 Plectin 13.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCTTCACGGCCTCGTGGACA 0.687 NA 13 38 0 0 0 0 ZNF510 22869 broad.mit.edu 37 9 99521423 99521423 + Silent SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr9:99521423C>T uc004awn.1 - 6 1878 c.1689G>A c.(1687-1689)CAG>CAA p.Q563Q ZNF510_uc004awo.1_Silent_p.Q563Q NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 563 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) TGTGAGTTTTCTGATGTTGAA 0.423 NA 9 120 0 0 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019939 131019939 + Silent SNP G G T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr9:131019939G>T uc011maw.1 - 24 2591 c.2578C>A c.(2578-2580)CGG>AGG p.R860R GOLGA2_uc010mxw.2_Silent_p.R183R|GOLGA2_uc004buh.2_Intron NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 860 Potential. Golgi cisterna membrane protein binding ovary(1) 1 TCCCGGTGCCGCTCCTTCAGC 0.622 NA 19 202 1.34e-09 1.66e-09 1 0 RAPGEF1 2889 broad.mit.edu 37 9 134458080 134458080 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr9:134458080C>T uc004cbc.2 - 22 2996 c.2866G>A c.(2866-2868)GAG>AAG p.E956K RAPGEF1_uc004cbb.2_Missense_Mutation_p.E974K NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 956 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GTGCAGTACTCGGCCAGGCCC 0.562 NA 19 90 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412252 139412252 + Missense_Mutation SNP C C T TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr9:139412252C>T uc004chz.2 - 8 1393 c.1393G>A c.(1393-1395)GCC>ACC p.A465T NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 465 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGCAGGTGGCGTCGTTCTGG 0.672 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 20 74 0 0 0 0 P2RY10 27334 broad.mit.edu 37 X 78217018 78217018 + Missense_Mutation SNP G G C TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chrX:78217018G>C uc004ede.2 + 4 1370 c.1001G>C c.(1000-1002)GGT>GCT p.G334A P2RY10_uc004edf.2_Missense_Mutation_p.G334A NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 334 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 AAGGAGAGTGGTTCATCAATG 0.418 NA 18 133 0 0 0 0 UBE2J2 118424 broad.mit.edu 37 1 1191442 1191443 + Frame_Shift_Del DEL AT AT - TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:1191442_1191443delAT uc001adn.2 - 6 787_788 c.477_478delAT c.(475-480)TTATTTfs p.L159fs UBE2J2_uc001adm.2_Frame_Shift_Del_p.L124fs|UBE2J2_uc001ado.2_Frame_Shift_Del_p.L175fs|UBE2J2_uc001adp.2_Frame_Shift_Del_p.L159fs|UBE2J2_uc001adq.2_Frame_Shift_Del_p.L107fs|UBE2J2_uc001adr.2_Frame_Shift_Del_p.L107fs|UBE2J2_uc001ads.2_Frame_Shift_Del_p.L107fs NM_194458 NP_919440 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2, J2 isoform 3 159_160 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) ACTTCAGGAAATAATTCACAAA 0.401 NA 16 100 --- --- --- --- NA NA NA NA ODF2L 57489 broad.mit.edu 37 1 86850380 86850382 + In_Frame_Del DEL AAG AAG - TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr1:86850380_86850382delAAG uc001dll.1 - 4 689_691 c.349_351delCTT c.(349-351)CTTdel p.L117del ODF2L_uc001dlm.1_In_Frame_Del_p.L117del|ODF2L_uc001dln.2_In_Frame_Del_p.L117del|ODF2L_uc001dlo.2_5'UTR|ODF2L_uc001dlp.2_In_Frame_Del_p.L117del|ODF2L_uc010osg.1_In_Frame_Del_p.L117del|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 117 centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) CTCTCTTTCTAAGAAGATGTTCT 0.286 NA 7 73 --- --- --- --- NA NA NA NA RASSF8 11228 broad.mit.edu 37 12 26217656 26217656 + Frame_Shift_Del DEL C C - TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr12:26217656delC uc001rgx.2 + 3 550 c.329delC c.(328-330)GCTfs p.A110fs RASSF8_uc001rgy.2_Frame_Shift_Del_p.A110fs|RASSF8_uc001rgz.2_Frame_Shift_Del_p.A110fs|RASSF8_uc009zjd.1_Frame_Shift_Del_p.A110fs|RASSF8_uc009zje.1_Frame_Shift_Del_p.A110fs NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 110 signal transduction 0 Colorectal(261;0.0847) CCCCCCTTAGCTAAACTGAGG 0.468 NA 12 122 --- --- --- --- NA NA NA NA FAM98A 25940 broad.mit.edu 37 2 33820638 33820638 + Frame_Shift_Del DEL G G - TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr2:33820638delG uc002rpa.1 - 2 194 c.120delC c.(118-120)CCCfs p.P40fs FAM98A_uc010yne.1_5'UTR NM_015475 NP_056290 Q8NCA5 FA98A_HUMAN hypothetical protein LOC25940 40 ovary(1) 1 all_hematologic(175;0.115) TGGTAAACTCGGGGGAACTGG 0.448 NA 10 105 --- --- --- --- NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55221819 55221831 + Frame_Shift_Del DEL GTGCCACCTGCGT GTGCCACCTGCGT - rs149840192 TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr7:55221819_55221831delGTGCCACCTGCGT uc003tqk.2 + 7 1109_1121 c.863_875delGTGCCACCTGCGT c.(862-876)GGTGCCACCTGCGTGfs p.G288fs EGFR_uc003tqh.2_Frame_Shift_Del_p.G288fs|EGFR_uc003tqi.2_Frame_Shift_Del_p.G288fs|EGFR_uc003tqj.2_Frame_Shift_Del_p.G288fs|EGFR_uc010kzg.1_Frame_Shift_Del_p.G243fs|EGFR_uc011kco.1_Frame_Shift_Del_p.G235fs|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 288_292 Approximate.|Extracellular (Potential). 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.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3)|p.V292L(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 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) TACAGCTTTGGTGCCACCTGCGTGAAGAAGTGT 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 318 --- --- --- --- NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr8:110455173_110455174insG uc003yne.2 + 36 4498 c.4394_splice c.e36-1 p.G1465_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 NA HNSCC(38;0.096) 9 119 --- --- --- --- NA NA NA NA COL22A1 169044 broad.mit.edu 37 8 139824126 139824127 + In_Frame_Ins INS - - GGTGGA TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chr8:139824126_139824127insGGTGGA uc003yvd.2 - 9 1811_1812 c.1364_1365insTCCACC c.(1363-1365)CCC>CCTCCACCC p.455_455P>PPP NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 455 Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCTGGGGTGGGGGTGGAGGTGG 0.599 NA HNSCC(7;0.00092) 3 6 --- --- --- --- NA NA NA NA WNK3 65267 broad.mit.edu 37 X 54263432 54263434 + In_Frame_Del DEL CAC CAC - TCGA-CV-7236-01A-11D-2012-08 TCGA-CV-7236-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq dc220a9d-1f16-4fe3-8196-d837a909f038 360144da-2c0b-4e18-81b5-5dde9d7a3682 g.chrX:54263432_54263434delCAC uc004dtd.1 - 20 4863_4865 c.4424_4426delGTG c.(4423-4428)AGTGAT>AAT p.1475_1476SD>N WNK3_uc004dtc.1_In_Frame_Del_p.1522_1523SD>N NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1475_1476 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GATTCATCATCACTGCTCATTGG 0.433 NA 34 240 --- --- --- --- NA NA NA NA