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 RBBP4 5928 broad.mit.edu 37 1 33134833 33134833 + Missense_Mutation SNP T G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:33134833T>G uc001bvr.2 + 7 922 c.763T>G c.(763-765)TGG>GGG p.W255G RBBP4_uc001bvs.2_Missense_Mutation_p.W254G|RBBP4_uc010ohj.1_Missense_Mutation_p.W3G|RBBP4_uc010ohk.1_Missense_Mutation_p.W220G NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 255 WD 3. cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TCACTGAAGTTGGGATACTCG 0.353 CYP4A11 1579 broad.mit.edu 37 1 47399686 47399686 + Missense_Mutation SNP G A A rs66477740 TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:47399686G>A uc001cqp.3 - 9 1205 c.1154C>T c.(1153-1155)CCG>CTG p.P385L CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 385 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) GCCTGGCACCGGTGGGTAGAG 0.567 LRP8 7804 broad.mit.edu 37 1 53732253 53732253 + Missense_Mutation SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:53732253C>T uc001cvi.1 - 9 1461 c.1319G>A c.(1318-1320)CGG>CAG p.R440Q LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.R270Q|LRP8_uc001cvj.1_Missense_Mutation_p.R440Q|LRP8_uc001cvl.1_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 440 Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 TGAATAGTTCCGCTTCACCAG 0.537 FLG 2312 broad.mit.edu 37 1 152285273 152285273 + Missense_Mutation SNP G T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:152285273G>T uc001ezu.1 - 3 2125 c.2089C>A c.(2089-2091)CAT>AAT p.H697N uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 697 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGTTCATGGGATGACGCA 0.557 Ichthyosis LCE1F 353137 broad.mit.edu 37 1 152748961 152748961 + Silent SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:152748961T>C uc010pdv.1 + 1 114 c.114T>C c.(112-114)CCT>CCC p.P38P NM_178354 NP_848131 Q5T754 LCE1F_HUMAN late cornified envelope 1F 38 Pro-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ctaagtgccctccTGTCTCTT 0.408 C1orf66 51093 broad.mit.edu 37 1 156702252 156702252 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:156702252G>A uc001fpu.2 + 3 1050 c.416G>A c.(415-417)CGG>CAG p.R139Q C1orf66_uc001fpv.2_Missense_Mutation_p.R139Q NM_015997 NP_057081 Q96FB5 RRNAD_HUMAN hypothetical protein LOC51093 isoform 1 139 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CATGAGATCCGGAGGCTGGGA 0.562 KIRREL 55243 broad.mit.edu 37 1 158063228 158063228 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:158063228G>A uc001frn.3 + 12 1975 c.1571G>A c.(1570-1572)CGC>CAC p.R524H KIRREL_uc010pib.1_Missense_Mutation_p.R424H|KIRREL_uc009wsq.2_Missense_Mutation_p.R360H|KIRREL_uc001fro.3_Missense_Mutation_p.R338H NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 524 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) TACCGGCGCCGCAAAGGCAGT 0.607 USH2A 7399 broad.mit.edu 37 1 215814045 215814045 + Silent SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:215814045G>A uc001hku.1 - 68 15210 c.14823C>T c.(14821-14823)GAC>GAT p.D4941D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4941 Fibronectin type-III 35.|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) ACAAATTGCTGTCCACCGAAA 0.507 HNSCC(13;0.011) LYST 1130 broad.mit.edu 37 1 235969724 235969724 + Silent SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr1:235969724C>T uc001hxj.2 - 6 2887 c.2712G>A c.(2710-2712)GTG>GTA p.V904V LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.V904V NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 904 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATAAAAAAGCCACACAGAGGA 0.428 Chediak-Higashi_syndrome RTKN2 219790 broad.mit.edu 37 10 63957964 63957964 + Silent SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr10:63957964T>C uc001jlw.2 - 12 1630 c.1533A>G c.(1531-1533)AAA>AAG p.K511K RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.K165K NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 511 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) TGAATGGAAGTTTATCAGAAG 0.398 PTEN 5728 broad.mit.edu 37 10 89720827 89720831 + Frame_Shift_Del DEL CAAAG - - TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr10:89720827_89720831delCAAAG uc001kfb.2 + 9 2009_2013 c.978_982delCAAAG c.(976-984)GACAAAGCAfs p.D326fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 326_328 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.D326G(1)|p.G165_K342del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATGATCTTGACAAAGCAAATAAAGA 0.337 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) OR10A3 26496 broad.mit.edu 37 11 7960190 7960190 + Missense_Mutation SNP C T T rs146552050 TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:7960190C>T uc010rbi.1 - 1 878 c.878G>A c.(877-879)CGA>CAA p.R293Q NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCACTGTTTCGTAAGCTATA 0.418 SPRYD5 84767 broad.mit.edu 37 11 55653196 55653197 + Missense_Mutation DNP GA TC TC TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:55653196_55653197GA>TC uc010rip.1 + 2 384_385 c.292_293GA>TC c.(292-294)GAG>TCG p.E98S SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 98 B box-type. intracellular zinc ion binding 0 all_epithelial(135;0.226) GATGCACAGAGAGACAAAGAAG 0.485 SPRYD5 84767 broad.mit.edu 37 11 55658647 55658647 + Missense_Mutation SNP A T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:55658647A>T uc010rip.1 + 7 990 c.898A>T c.(898-900)ATC>TTC p.I300F SPRYD5_uc010riq.1_Missense_Mutation_p.I157F NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 300 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CAATAGTCATATCTTCCTGTG 0.348 SPRYD5 84767 broad.mit.edu 37 11 55658914 55658914 + Missense_Mutation SNP T A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:55658914T>A uc010rip.1 + 7 1257 c.1165T>A c.(1165-1167)TGC>AGC p.C389S SPRYD5_uc010riq.1_Missense_Mutation_p.C246S NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 389 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) GGACACTCACTGCAGTCTCTT 0.448 OR8J3 81168 broad.mit.edu 37 11 55904831 55904831 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:55904831G>A uc010riz.1 - 1 364 c.364C>T c.(364-366)CGC>TGC p.R122C NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GCCACATAGCGGTCATAGGCC 0.502 OR5A1 219982 broad.mit.edu 37 11 59210873 59210873 + Missense_Mutation SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:59210873T>C uc001nnx.1 + 1 232 c.232T>C c.(232-234)TCT>CCT p.S78P NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CTGCTACTCTTCTGCTGTGGC 0.468 CDC42BPG 55561 broad.mit.edu 37 11 64607007 64607007 + Silent SNP G A A rs141134240 byFrequency TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:64607007G>A uc001obs.3 - 6 618 c.618C>T c.(616-618)AAC>AAT p.N206N NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 206 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 GAATGTGCCCGTTCACATCCA 0.607 UVRAG 7405 broad.mit.edu 37 11 75718654 75718654 + Missense_Mutation SNP C G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr11:75718654C>G uc001oxc.2 + 10 1229 c.988C>G c.(988-990)CCT>GCT p.P330A UVRAG_uc010rrw.1_Missense_Mutation_p.P229A|UVRAG_uc001oxd.2_5'UTR|UVRAG_uc010rrx.1_5'UTR|UVRAG_uc009yuh.1_RNA NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 330 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 CTACATTTACCCTATTGATTT 0.318 SMAGP 57228 broad.mit.edu 37 12 51663060 51663060 + Missense_Mutation SNP C G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr12:51663060C>G uc001ryc.1 - 1 674 c.3G>C c.(1-3)ATG>ATC p.M1I SMAGP_uc001ryd.1_Missense_Mutation_p.M1I|SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_RNA NM_001033873 NP_001029045 Q0VAQ4 SMAGP_HUMAN small trans-membrane and glycosylated protein 1 Extracellular (Potential). cytoplasmic vesicle membrane|integral to membrane|plasma membrane 0 GGAGGCTGGTCATTGTCACTA 0.512 RNF17 56163 broad.mit.edu 37 13 25367336 25367336 + Silent SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr13:25367336T>C uc001upr.2 + 10 1133 c.1092T>C c.(1090-1092)CCT>CCC p.P364P RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.P364P|RNF17_uc001ups.2_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 364 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTTTGCAACCTGAGACAAATG 0.428 TRPC4 7223 broad.mit.edu 37 13 38237609 38237609 + Silent SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr13:38237609C>T uc001uws.2 - 6 1867 c.1632G>A c.(1630-1632)ACG>ACA p.T544T TRPC4_uc010abv.2_Silent_p.T124T|TRPC4_uc001uwt.2_Silent_p.T544T|TRPC4_uc010tey.1_Silent_p.T544T|TRPC4_uc010abw.2_Silent_p.T371T|TRPC4_uc010abx.2_Silent_p.T544T|TRPC4_uc010aby.2_Silent_p.T544T NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 544 Extracellular (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTAACCCTTTCGTTTCTTCAT 0.348 COL4A1 1282 broad.mit.edu 37 13 110855947 110855947 + Missense_Mutation SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr13:110855947T>C uc001vqw.3 - 18 1087 c.965A>G c.(964-966)AAG>AGG p.K322R COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 322 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TGCTTCACCCTTTTCTCCCTA 0.453 MAP3K9 4293 broad.mit.edu 37 14 71209191 71209191 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr14:71209191G>A uc001xmm.2 - 6 1444 c.1444C>T c.(1444-1446)CGG>TGG p.R482W MAP3K9_uc010ttk.1_Missense_Mutation_p.R219W|MAP3K9_uc001xmk.2_Missense_Mutation_p.R176W|MAP3K9_uc001xml.2_Missense_Mutation_p.R482W NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 482 Leucine-zipper 2. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TTGAGCTCCCGTTCCAGGATG 0.617 EPB42 2038 broad.mit.edu 37 15 43499445 43499445 + Missense_Mutation SNP C A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr15:43499445C>A uc001zra.3 - 9 1570 c.1270G>T c.(1270-1272)GGC>TGC p.G424C EPB42_uc001zqz.3_Missense_Mutation_p.G91C|EPB42_uc010bde.2_Missense_Mutation_p.G269C|EPB42_uc001zrb.3_Missense_Mutation_p.G454C|EPB42_uc010udm.1_Missense_Mutation_p.G346C NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 424 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CGGTCACTGCCCACACCCTTG 0.552 SMAD3 4088 broad.mit.edu 37 15 67457245 67457245 + Silent SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr15:67457245C>T uc002aqj.2 + 2 517 c.219C>T c.(217-219)GGC>GGT p.G73G SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.G29G|SMAD3_uc010ujt.1_5'Flank NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 73 MH1. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CCCTGGATGGCCGGTTGCAGG 0.612 CACNA1G 8913 broad.mit.edu 37 17 48697121 48697121 + Silent SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr17:48697121G>A uc002irk.1 + 34 6231 c.5859G>A c.(5857-5859)CTG>CTA p.L1953L CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1953 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGACGAGCTGGCAGGCCCAG 0.667 KIAA0427 9811 broad.mit.edu 37 18 46385757 46385757 + Missense_Mutation SNP A G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr18:46385757A>G uc002ldc.2 + 12 1909 c.1624A>G c.(1624-1626)ATG>GTG p.M542V KIAA0427_uc002ldd.2_Missense_Mutation_p.M544V|KIAA0427_uc002lde.3_Missense_Mutation_p.M171V NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 542 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GCTGCCTGAGATGATGACAGA 0.637 DNMT1 1786 broad.mit.edu 37 19 10254528 10254528 + Silent SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr19:10254528G>A uc002mng.2 - 28 3162 c.2982C>T c.(2980-2982)GGC>GGT p.G994G DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Silent_p.G1010G|DNMT1_uc002mnh.2_Silent_p.G889G|DNMT1_uc010xld.1_Silent_p.G994G NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 994 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CTTTGATCCGGCCAATTCGGT 0.542 CRLF1 9244 broad.mit.edu 37 19 18710416 18710416 + Missense_Mutation SNP C T T rs146027258 byFrequency TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr19:18710416C>T uc010ebt.1 - 2 550 c.356G>A c.(355-357)CGT>CAT p.R119H NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 119 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity p.R119H(1) central_nervous_system(1) 1 GCTGCCGTCACGGGCGTGGCA 0.652 FOSB 2354 broad.mit.edu 37 19 45973902 45973902 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr19:45973902G>A uc002pbx.3 + 2 734 c.142G>A c.(142-144)GGG>AGG p.G48R ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.G48R|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_5'UTR NM_006732 NP_006723 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 48 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(2)|lung(1) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) CGCCGGTCTCGGGGAAATGCC 0.408 PNMAL2 57469 broad.mit.edu 37 19 46997949 46997949 + Silent SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr19:46997949G>A uc002pes.2 - 1 1221 c.774C>T c.(772-774)ACC>ACT p.T258T uc002peu.1_Silent_p.T20T NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 258 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TGTCGGTGACGGTGACCAGAG 0.602 DHX34 9704 broad.mit.edu 37 19 47883014 47883014 + Silent SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr19:47883014C>T uc010xyn.1 + 14 3095 c.2754C>T c.(2752-2754)TCC>TCT p.S918S DHX34_uc010xyo.1_Silent_p.S47S NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 918 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GTGACTGCTCCCGCCTGGTGG 0.627 MTA3 57504 broad.mit.edu 37 2 42883411 42883411 + Nonsense_Mutation SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:42883411C>T uc002rso.1 + 8 1073 c.403C>T c.(403-405)CGA>TGA p.R135* MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.2_Nonsense_Mutation_p.R191*|MTA3_uc002rsr.2_Nonsense_Mutation_p.R191* NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 191 ELM2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ACTTACGGATCGACAGATTGA 0.328 REV1 51455 broad.mit.edu 37 2 100024503 100024507 + Frame_Shift_Del DEL TGATA - - TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:100024503_100024507delTGATA uc002tad.2 - 15 2644_2648 c.2432_2436delTATCA c.(2431-2436)ATATCAfs p.I811fs REV1_uc002tac.2_Frame_Shift_Del_p.I810fs NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 811_812 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 CTCTCATATCTGATATATTTAGTTT 0.346 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage SEPT10 151011 broad.mit.edu 37 2 110303622 110303625 + Splice_Site DEL CTTA - - TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:110303622_110303625delCTTA uc002tew.2 - 10 1728 c.1349_splice c.e10+1 p.N450_splice SEPT10_uc010ywu.1_3'UTR|SEPT10_uc002tex.2_Splice_Site_p.N427_splice|SEPT10_uc002tey.2_Splice_Site_p.K450_splice|SEPT10_uc010ywv.1_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_3'UTR|SEPT10_uc010fjo.2_Splice_Site NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 cell cycle|cell division septin complex GTP binding 0 GGCTGGGCCTCTTACTTCTTACGG 0.495 OREG0014878 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) POTEF 728378 broad.mit.edu 37 2 130877828 130877828 + Missense_Mutation SNP G T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:130877828G>T uc010fmh.2 - 3 661 c.261C>A c.(259-261)GAC>GAA p.D87E NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 87 cell cortex ATP binding skin(3)|ovary(2) 5 TAGCAGAGTCGTCGTGGTCTC 0.612 ITGAV 3685 broad.mit.edu 37 2 187506166 187506166 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:187506166G>A uc002upq.2 + 12 1286 c.1010G>A c.(1009-1011)GGC>GAC p.G337D ITGAV_uc010frs.2_Missense_Mutation_p.G301D|ITGAV_uc010zfv.1_Missense_Mutation_p.G291D NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 337 FG-GAP 5.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GGCTCTGATGGCAAACTCCAA 0.458 SGOL2 151246 broad.mit.edu 37 2 201437521 201437521 + Missense_Mutation SNP A G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:201437521A>G uc002uvw.2 + 7 2565 c.2452A>G c.(2452-2454)ATA>GTA p.I818V SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 818 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AAAGTCAGAAATAATTCCTGA 0.348 GPBAR1 151306 broad.mit.edu 37 2 219127776 219127776 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr2:219127776G>A uc010zjw.1 + 2 576 c.329G>A c.(328-330)CGC>CAC p.R110H GPBAR1_uc010zjx.1_Missense_Mutation_p.R110H|GPBAR1_uc010zjy.1_Missense_Mutation_p.R110H NM_170699 NP_733800 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 110 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACGGGGAGCGCTACATGGCA 0.647 FGFR3 2261 broad.mit.edu 37 4 1807889 1807889 + Missense_Mutation SNP A G G rs78311289 TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr4:1807889A>G uc003gdr.3 + 14 2204 c.1948A>G c.(1948-1950)AAG>GAG p.K650E FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 650 Protein kinase.|Cytoplasmic (Potential). K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).|K -> M (in KERSEB, ACH and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.K650M(76)|p.K650E(71)|p.K650Q(5)|p.K650T(5)|p.K650N(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTACTACAAGAAGACGACCAA 0.667 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome BANK1 55024 broad.mit.edu 37 4 102984233 102984233 + Missense_Mutation SNP A C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr4:102984233A>C uc003hvy.3 + 13 2424 c.2150A>C c.(2149-2151)GAG>GCG p.E717A BANK1_uc003hvx.3_Missense_Mutation_p.E702A|BANK1_uc010ill.2_Missense_Mutation_p.E584A|BANK1_uc003hvz.3_Missense_Mutation_p.E687A NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 717 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CACATTAAGGAGAAATTACGA 0.323 NDST4 64579 broad.mit.edu 37 4 115792048 115792048 + Missense_Mutation SNP G C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr4:115792048G>C uc003ibu.2 - 7 2274 c.1595C>G c.(1594-1596)ACC>AGC p.T532S NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 532 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTTCACAAAGGTATATAACCC 0.403 NDST3 9348 broad.mit.edu 37 4 118975673 118975673 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr4:118975673G>A uc003ibx.2 + 2 1011 c.608G>A c.(607-609)CGT>CAT p.R203H NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.2_Missense_Mutation_p.R203H NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 203 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 CCATTGATTCGTGTGACCAAA 0.358 ASB5 140458 broad.mit.edu 37 4 177190191 177190191 + Silent SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr4:177190191C>T uc003iuq.1 - 1 85 c.69G>A c.(67-69)TCG>TCA p.S23S NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 23 intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AACAGAACAGCGAAAGTATTG 0.433 PCDHA3 56145 broad.mit.edu 37 5 140182149 140182149 + Missense_Mutation SNP C T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr5:140182149C>T uc003lhf.2 + 1 1367 c.1367C>T c.(1366-1368)TCG>TTG p.S456L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S456L NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 456 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGCATTCTCGCAGTCCGAG 0.672 PCDHB13 56123 broad.mit.edu 37 5 140595338 140595338 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr5:140595338G>A uc003lja.1 + 1 1830 c.1643G>A c.(1642-1644)CGC>CAC p.R548H NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 548 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGTGCGCGTGGTGGTG 0.716 PRPF4B 8899 broad.mit.edu 37 6 4042762 4042762 + Missense_Mutation SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr6:4042762T>C uc003mvv.2 + 5 1701 c.1610T>C c.(1609-1611)CTA>CCA p.L537P PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 537 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) GAAGAAGCCCTAATAGAACAG 0.313 OR2H1 26716 broad.mit.edu 37 6 29430141 29430141 + Missense_Mutation SNP G C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr6:29430141G>C uc003nmi.2 + 3 1038 c.595G>C c.(595-597)GTG>CTG p.V199L OR2H1_uc003nmj.1_Missense_Mutation_p.V199L|OR2H1_uc010jri.1_Missense_Mutation_p.V121L NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCAGTTGGCTGTGTCCAGTGT 0.512 DST 667 broad.mit.edu 37 6 56566691 56566691 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr6:56566691G>A uc003pdf.2 - 7 878 c.850C>T c.(850-852)CGC>TGC p.R284C DST_uc003pcz.3_Missense_Mutation_p.R106C|DST_uc011dxj.1_Missense_Mutation_p.R135C|DST_uc011dxk.1_Missense_Mutation_p.R146C|DST_uc011dxl.1_Missense_Mutation_p.R135C NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 106 CH 1.|Actin-binding. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATACCTGGCGTCTTTTCAAA 0.343 SASH1 23328 broad.mit.edu 37 6 148854037 148854037 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr6:148854037G>A uc003qme.1 + 14 2144 c.1669G>A c.(1669-1671)GGG>AGG p.G557R SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 557 SH3. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CCCGTTCTGCGGGCGTGCCAG 0.582 GRM3 2913 broad.mit.edu 37 7 86415679 86415679 + Missense_Mutation SNP G A A TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr7:86415679G>A uc003uid.2 + 3 1670 c.571G>A c.(571-573)GTG>ATG p.V191M GRM3_uc010lef.2_Missense_Mutation_p.V189M|GRM3_uc010leg.2_Missense_Mutation_p.V63M|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 191 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCCAGGACCGTGCCCCCCGA 0.567 MUC17 140453 broad.mit.edu 37 7 100678176 100678176 + Missense_Mutation SNP C G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr7:100678176C>G uc003uxp.1 + 3 3532 c.3479C>G c.(3478-3480)ACT>AGT p.T1160S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1160 Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGGAACCACTCCGTTAGCA 0.522 PTPRZ1 5803 broad.mit.edu 37 7 121636615 121636615 + Missense_Mutation SNP G C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr7:121636615G>C uc003vjy.2 + 9 1503 c.1108G>C c.(1108-1110)GAC>CAC p.D370H PTPRZ1_uc003vjz.2_Missense_Mutation_p.D370H NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 370 Extracellular (Potential).|Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TGGCTATCAAGACTTGGTAAC 0.338 EPHB6 2051 broad.mit.edu 37 7 142562429 142562430 + Missense_Mutation DNP AA CC CC TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr7:142562429_142562430AA>CC uc011kst.1 + 7 1658_1659 c.871_872AA>CC c.(871-873)AAG>CCG p.K291P EPHB6_uc011ksu.1_Missense_Mutation_p.K291P|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 291 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CGGGGAGGGCAAGTGGATGGTA 0.653 SLCO5A1 81796 broad.mit.edu 37 8 70594493 70594493 + Missense_Mutation SNP A T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr8:70594493A>T uc003xyl.2 - 7 2415 c.1708T>A c.(1708-1710)TGT>AGT p.C570S SLCO5A1_uc010lzb.2_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C570S NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 570 Extracellular (Potential).|Kazal-like. 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) TCTGATCCACAGACTGGCTCA 0.428 C9orf66 157983 broad.mit.edu 37 9 214614 214614 + Silent SNP G T T TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr9:214614G>T uc003zge.3 - 1 1280 c.783C>A c.(781-783)GGC>GGA p.G261G DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank NM_152569 NP_689782 Q5T8R8 CI066_HUMAN hypothetical protein LOC157983 261 Arg-rich. central_nervous_system(1) 1 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGAGCTTCCGGCCTGCGCGCA 0.711 SVEP1 79987 broad.mit.edu 37 9 113169426 113169426 + Missense_Mutation SNP G C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr9:113169426G>C uc010mtz.2 - 38 8791 c.8454C>G c.(8452-8454)GAC>GAG p.D2818E SVEP1_uc010mty.2_Missense_Mutation_p.D744E NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2818 Sushi 23. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCCAGTTTTTGTCATCCTGGC 0.512 C9orf98 158067 broad.mit.edu 37 9 135702270 135702270 + Missense_Mutation SNP T G G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chr9:135702270T>G uc004cbu.1 - 8 1284 c.728A>C c.(727-729)GAC>GCC p.D243A C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D39A NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 243 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) ACATGGCTGGTCAGCACTGAT 0.557 GPRASP2 114928 broad.mit.edu 37 X 101972203 101972203 + Silent SNP T C C TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070 5901ecf0-7e6a-410c-b491-ae958d77f1f3 g.chrX:101972203T>C uc004ejk.2 + 4 3740 c.2406T>C c.(2404-2406)GAT>GAC p.D802D GPRASP2_uc004ejl.2_Silent_p.D802D|GPRASP2_uc004ejm.2_Silent_p.D802D|GPRASP2_uc011mrp.1_Silent_p.D141D NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 802 cytoplasm protein binding ovary(1) 1 TTGATGATGATTTCAGTCTTG 0.333