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 C1orf86 199990 broad.mit.edu 37 1 2125232 2125232 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:2125232C>T uc001aiy.2 - 3 342 c.316G>A c.(316-318)GGG>AGG p.G106R C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Silent_p.T101T NM_182533 NP_872339 Q6NZ36 CA086_HUMAN hypothetical protein LOC199990 isoform 2 106 0 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCTCCTGCCCCGTGAAGCAGC 0.692 SPEN 23013 broad.mit.edu 37 1 16260992 16260992 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:16260992G>A uc001axk.1 + 11 8461 c.8257G>A c.(8257-8259)GTA>ATA p.V2753I SPEN_uc010obp.1_Missense_Mutation_p.V2712I NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2753 Interaction with RBPSUH (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATCTGGTGGTGTAACGGCCAC 0.577 OPRD1 4985 broad.mit.edu 37 1 29189500 29189500 + Missense_Mutation SNP C T T rs139895939 TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:29189500C>T uc001brf.1 + 3 1066 c.824C>T c.(823-825)GCG>GTG p.A275V NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 275 Helical; Name=6; (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GTGTGTTGGGCGCCCATCCAC 0.672 PTPN22 26191 broad.mit.edu 37 1 114380721 114380721 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:114380721G>A uc001eds.2 - 13 1431 c.1301C>T c.(1300-1302)GCA>GTA p.A434V PTPN22_uc009wgq.2_Missense_Mutation_p.A379V|PTPN22_uc010owo.1_Missense_Mutation_p.A190V|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.A434V|PTPN22_uc009wgs.2_Missense_Mutation_p.A307V|PTPN22_uc001edu.2_Missense_Mutation_p.A434V NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 434 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATATCTTCCTGCTGCATTTAC 0.408 IGSF3 3321 broad.mit.edu 37 1 117142794 117142794 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:117142794G>A uc001egr.1 - 7 2503 c.1798C>T c.(1798-1800)CGG>TGG p.R600W IGSF3_uc001egq.1_Missense_Mutation_p.R620W|IGSF3_uc001egs.1_Missense_Mutation_p.R273W NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 600 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CCTCCGTCCCGGGTGAAGGTC 0.622 VTCN1 79679 broad.mit.edu 37 1 117690323 117690323 + Missense_Mutation SNP C A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:117690323C>A uc001ehb.2 - 5 878 c.806G>T c.(805-807)AGC>ATC p.S269I VTCN1_uc001ehc.2_Missense_Mutation_p.S174I|VTCN1_uc009whf.1_Missense_Mutation_p.S153I NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation 269 Helical; (Potential). integral to membrane|plasma membrane 0 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) AAGTGCCCAGCTGATGGCAAA 0.448 C1orf110 339512 broad.mit.edu 37 1 162829260 162829260 + Missense_Mutation SNP C A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:162829260C>A uc001gck.2 - 2 352 c.177G>T c.(175-177)AGG>AGT p.R59S C1orf110_uc009wux.1_Missense_Mutation_p.R59S NM_178550 NP_848645 Q86UF4 CA110_HUMAN hypothetical protein LOC339512 59 Potential. 0 CTTGCTGCAACCTCTGCAGTT 0.547 CYB5R1 51706 broad.mit.edu 37 1 202932844 202932844 + Missense_Mutation SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:202932844T>C uc001gyt.2 - 7 642 c.571A>G c.(571-573)ATG>GTG p.M191V CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 191 FAD (By similarity). sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) AGCTGTAGCATTGGGGTGATT 0.512 SMYD3 64754 broad.mit.edu 37 1 246078867 246078867 + Nonsense_Mutation SNP C A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr1:246078867C>A uc001ibl.2 - 8 873 c.778G>T c.(778-780)GAA>TAA p.E260* SMYD3_uc001ibk.2_Nonsense_Mutation_p.E201*|SMYD3_uc001ibi.2_Nonsense_Mutation_p.E71*|SMYD3_uc001ibj.2_Nonsense_Mutation_p.E71* NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 260 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) CAGTCACATTCAAAGCAGTAC 0.512 OPTN 10133 broad.mit.edu 37 10 13174131 13174131 + Missense_Mutation SNP A G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr10:13174131A>G uc001ilu.1 + 14 1904 c.1466A>G c.(1465-1467)AAG>AGG p.K489R OPTN_uc001ilv.1_Missense_Mutation_p.K489R|OPTN_uc001ilw.1_Missense_Mutation_p.K489R|OPTN_uc001ilx.1_Missense_Mutation_p.K489R|OPTN_uc001ily.1_Missense_Mutation_p.K483R|OPTN_uc010qbr.1_Missense_Mutation_p.K432R|OPTN_uc001ilz.1_Missense_Mutation_p.K483R NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 489 Potential.|Interaction with MYO6.|Interaction with HD. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 CATGAGGAAAAGGAGCAACTG 0.443 CCDC7 221016 broad.mit.edu 37 10 32780862 32780862 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr10:32780862C>T uc001iwj.2 + 10 1379 c.809C>T c.(808-810)TCA>TTA p.S270L CCDC7_uc009xlu.1_Intron|CCDC7_uc001iwk.2_Missense_Mutation_p.S270L|CCDC7_uc009xlv.2_Intron|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Intron|CCDC7_uc009xly.1_Intron NM_145023 NP_659460 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 270 0 Breast(68;0.000207)|Prostate(175;0.0107) ACTGCTCATTCAATGACTAAT 0.259 SLC18A3 6572 broad.mit.edu 37 10 50819867 50819867 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr10:50819867G>A uc001jhw.2 + 1 1521 c.1081G>A c.(1081-1083)GCG>ACG p.A361T CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 361 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GCTGTACGGCGCGCTTGGGCT 0.687 LIPF 8513 broad.mit.edu 37 10 90428330 90428330 + Missense_Mutation SNP T A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr10:90428330T>A uc001kfg.1 + 4 405 c.239T>A c.(238-240)GTG>GAG p.V80E LIPF_uc009xtk.2_Missense_Mutation_p.V80E|LIPF_uc001kfh.1_Intron|LIPF_uc010qmt.1_Missense_Mutation_p.V90E|LIPF_uc010qmu.1_Intron NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 80 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AGACCTGTTGTGTTTTTGCAG 0.408 DMBT1 1755 broad.mit.edu 37 10 124395540 124395540 + Silent SNP A G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr10:124395540A>G uc001lgk.1 + 50 6301 c.6195A>G c.(6193-6195)GAA>GAG p.E2065E DMBT1_uc001lgl.1_Silent_p.E2055E|DMBT1_uc001lgm.1_Silent_p.E1437E|DMBT1_uc009xzz.1_Silent_p.E2064E|DMBT1_uc010qtx.1_Silent_p.E785E|DMBT1_uc009yab.1_Silent_p.E768E|DMBT1_uc009yac.1_Silent_p.E359E NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2065 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATTATATTGAAGTTTTCGATG 0.507 NLRP14 338323 broad.mit.edu 37 11 7083705 7083705 + Silent SNP A G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr11:7083705A>G uc001mfb.1 + 10 3269 c.2946A>G c.(2944-2946)AGA>AGG p.R982R NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 982 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGCTTTGAGATATCCAAACT 0.403 RNF141 50862 broad.mit.edu 37 11 10536581 10536581 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr11:10536581C>T uc001mis.1 - 6 728 c.575G>A c.(574-576)CGC>CAC p.R192H RNF141_uc009yga.1_RNA NM_016422 NP_057506 Q8WVD5 RN141_HUMAN ring finger protein 141 192 RING-type. zinc ion binding 0 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) CATCTGTAGGCGACAAATAGG 0.378 WT1 7490 broad.mit.edu 37 11 32421505 32421505 + Silent SNP T G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr11:32421505T>G uc001mtn.1 - 6 1283 c.1087A>C c.(1087-1089)AGA>CGA p.R363R WT1_uc001mtl.1_Silent_p.R151R|WT1_uc001mtm.1_Silent_p.R134R|WT1_uc001mto.1_Silent_p.R363R|WT1_uc001mtp.1_Silent_p.R346R|WT1_uc001mtq.1_Silent_p.R346R|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 295 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TGAATGCCTCTGAAGACACCG 0.557 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation CHRM1 1128 broad.mit.edu 37 11 62677224 62677224 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr11:62677224C>T uc001nwi.2 - 2 1750 c.1349G>A c.(1348-1350)GGC>GAC p.G450D NM_000738 NP_000729 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 450 Cytoplasmic (Potential). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding 0 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) GTGCACGGAGCCAGGGCGCTT 0.657 STIP1 10963 broad.mit.edu 37 11 63961718 63961718 + Nonsense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr11:63961718C>T uc001nyk.1 + 3 424 c.277C>T c.(277-279)CGA>TGA p.R93* STIP1_uc001nyj.2_Nonsense_Mutation_p.R93*|STIP1_uc010rnb.1_Intron NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 93 TPR 3. axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 AGAAGCCAAGCGAACCTATGA 0.468 GRAMD1B 57476 broad.mit.edu 37 11 123471245 123471245 + Missense_Mutation SNP C G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr11:123471245C>G uc001pyx.2 + 7 939 c.610C>G c.(610-612)CTC>GTC p.L204V GRAMD1B_uc001pyw.2_Missense_Mutation_p.L211V|GRAMD1B_uc010rzw.1_Missense_Mutation_p.L164V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L164V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.L200V NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 204 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GCAGAATGCTCTCCTTGAAAA 0.458 OVCH1 341350 broad.mit.edu 37 12 29630051 29630051 + Missense_Mutation SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr12:29630051T>C uc001rix.1 - 12 1361 c.1361A>G c.(1360-1362)GAG>GGG p.E454G NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 454 CUB 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AATGTGCTTCTCTGGAGCACA 0.393 H3F3C 440093 broad.mit.edu 37 12 31944946 31944946 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr12:31944946C>T uc001rkr.2 - 1 230 c.155G>A c.(154-156)CGT>CAT p.R52H NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 52 nucleosome assembly nucleosome|nucleus DNA binding 0 CTGATAACGACGAATCTCTCG 0.582 HNSCC(67;0.2) GALNT6 11226 broad.mit.edu 37 12 51773383 51773383 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr12:51773383C>T uc001ryk.2 - 2 408 c.183G>A c.(181-183)ATG>ATA p.M61I GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.M61I|GALNT6_uc010snh.1_Missense_Mutation_p.M61I NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 61 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 TAAGGTTGTTCATGGCCTCCA 0.552 OR6C1 390321 broad.mit.edu 37 12 55714592 55714592 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr12:55714592C>T uc010spi.1 + 1 209 c.209C>T c.(208-210)TCG>TTG p.S70L NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 TTAGAAATTTCGTTCACAACC 0.378 Unknown 0 broad.mit.edu 37 12 63359117 63359117 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr12:63359117C>T uc001srn.1 + 1 18 c.13C>T c.(13-15)CGC>TGC p.R5C SubName: Full=Putative uncharacterized protein RPL14P1; GGTGTTCAGGCGCTTCGTGGA 0.468 GLT8D2 83468 broad.mit.edu 37 12 104387178 104387178 + Missense_Mutation SNP C G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr12:104387178C>G uc001tkh.1 - 10 1278 c.872G>C c.(871-873)AGG>ACG p.R291T GLT8D2_uc001tki.1_Missense_Mutation_p.R291T NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 291 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 ACCCAGGTGCCTTATGTGCCA 0.353 DCLK1 9201 broad.mit.edu 37 13 36686060 36686060 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr13:36686060G>A uc001uvf.2 - 3 902 c.669C>T c.(667-669)GCC>GCT p.A223A NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 223 Doublecortin 2. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CCAGCTTGATGGCATCGGTGA 0.488 SPG20 23111 broad.mit.edu 37 13 36909291 36909291 + Missense_Mutation SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr13:36909291T>C uc001uvn.2 - 3 947 c.677A>G c.(676-678)AAT>AGT p.N226S SPG20_uc010ten.1_Missense_Mutation_p.N226S|SPG20_uc001uvm.2_Missense_Mutation_p.N226S|SPG20_uc001uvo.2_Missense_Mutation_p.N226S|SPG20_uc001uvq.2_Missense_Mutation_p.N226S|SPG20_uc001uvp.2_Missense_Mutation_p.N226S NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 226 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CTGTACTCCATTTGGTATCAA 0.423 CTSG 1511 broad.mit.edu 37 14 25043946 25043946 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr14:25043946G>A uc001wpq.2 - 3 311 c.274C>T c.(274-276)CGC>TGC p.R92C NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 92 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) ATGGCTCTGCGCGCAGTGATG 0.532 ARHGAP5 394 broad.mit.edu 37 14 32560334 32560334 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr14:32560334G>A uc001wrl.2 + 2 698 c.459G>A c.(457-459)AAG>AAA p.K153K ARHGAP5_uc001wrm.2_Silent_p.K153K|ARHGAP5_uc001wrn.2_Silent_p.K153K|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 153 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTGAAGGGAAGCTCAACGTAG 0.363 PTGDR 5729 broad.mit.edu 37 14 52735336 52735336 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr14:52735336G>A uc001wzq.2 + 1 906 c.804G>A c.(802-804)GCG>GCA p.A268A NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 268 Helical; Name=6; (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) TGCTGCTGGCGCTGATGACCG 0.687 CDAN1 146059 broad.mit.edu 37 15 43028860 43028860 + Frame_Shift_Del DEL G - - TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr15:43028860delG uc001zql.2 - 2 326 c.209delC c.(208-210)CCGfs p.P70fs CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 70 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GGCGGGGGTCGGGGGCCCCTG 0.736 TGM7 116179 broad.mit.edu 37 15 43571424 43571424 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr15:43571424G>A uc001zrf.1 - 11 1735 c.1730C>T c.(1729-1731)ACG>ATG p.T577M NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 577 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;9.14e-07) L-Glutamine(DB00130) CTTTTCGTCCGTTAGCTTGTT 0.527 ATP8B4 79895 broad.mit.edu 37 15 50226281 50226281 + Silent SNP G T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr15:50226281G>T uc001zxu.2 - 15 1528 c.1386C>A c.(1384-1386)CCC>CCA p.P462P ATP8B4_uc010ber.2_Silent_p.P335P|ATP8B4_uc010ufd.1_Silent_p.P335P|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 462 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATGAACTTTGGGATCACCCA 0.413 NEDD4 4734 broad.mit.edu 37 15 56207523 56207523 + Missense_Mutation SNP T G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr15:56207523T>G uc002adj.2 - 1 1807 c.1507A>C c.(1507-1509)AGC>CGC p.S503R NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.S503R|NEDD4_uc010ugj.1_Missense_Mutation_p.S503R|NEDD4_uc010bfm.2_Missense_Mutation_p.S503R|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 503 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TCTCTGTTGCTGTCTCTTGAT 0.338 KIAA1024 23251 broad.mit.edu 37 15 79748562 79748562 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr15:79748562G>A uc002bew.1 + 2 148 c.73G>A c.(73-75)GTT>ATT p.V25I KIAA1024_uc010unk.1_Missense_Mutation_p.V25I NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 25 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GCAAAATACCGTTTCTTATCA 0.478 ADAMTSL3 57188 broad.mit.edu 37 15 84659966 84659966 + Missense_Mutation SNP G T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr15:84659966G>T uc002bjz.3 + 23 4197 c.3973G>T c.(3973-3975)GGT>TGT p.G1325C ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1325C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G1325C NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1325 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCTGTAAAAGGTAAGTGTGG 0.502 CHD9 80205 broad.mit.edu 37 16 53338029 53338037 + In_Frame_Del DEL TAAAGGTAT - - TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr16:53338029_53338037delTAAAGGTAT uc002ehb.2 + 30 6275_6283 c.6111_6119delTAAAGGTAT c.(6109-6120)GCTAAAGGTATT>GCT p.KGI2038del CHD9_uc002egy.2_In_Frame_Del_p.KGI2038del|CHD9_uc002ehc.2_In_Frame_Del_p.KGI2038del|CHD9_uc002ehf.2_In_Frame_Del_p.KGI1152del|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_In_Frame_Del_p.KGI44del NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2038_2040 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TCCTAGATGCTAAAGGTATTATTCTAGAG 0.407 Unknown 0 broad.mit.edu 37 16 90160836 90160836 + Silent SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr16:90160836C>T uc002fqp.2 + 2 787 c.309C>T c.(307-309)AAC>AAT p.N103N uc002fqq.2_Silent_p.N48N Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. AGCGCGTCAACGTGCACCACC 0.701 Unknown 0 broad.mit.edu 37 16 90161578 90161578 + Silent SNP G A A rs13337896 by1000genomes TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr16:90161578G>A uc002fqp.2 + 3 931 c.453G>A c.(451-453)ACG>ACA p.T151T uc002fqq.2_Silent_p.T168T Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. GCCAAGGGACGCTACACCGAA 0.587 MYH13 8735 broad.mit.edu 37 17 10209843 10209843 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:10209843C>T uc002gmk.1 - 37 5489 c.5399G>A c.(5398-5400)CGT>CAT p.R1800H NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1800 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CTCATCTAGACGGTGCTGCAG 0.547 MYH8 4626 broad.mit.edu 37 17 10322097 10322097 + Missense_Mutation SNP C A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:10322097C>A uc002gmm.2 - 5 471 c.376G>T c.(376-378)GTC>TTC p.V126F uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 126 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTGACGGTGACACAGAAGAGG 0.512 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling AOC2 314 broad.mit.edu 37 17 41001205 41001205 + Missense_Mutation SNP T G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:41001205T>G uc002ibu.2 + 2 1726 c.1691T>G c.(1690-1692)GTC>GGC p.V564G AOC2_uc002ibt.2_Missense_Mutation_p.V564G|AOC3_uc002ibv.2_5'Flank NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 564 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) ACTCGGCAGGTCCTGGGAAAG 0.597 CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A - - TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:45219612delA uc002ild.3 - 11 1488 c.1361delT c.(1360-1362)CTAfs p.L454fs CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 TGCTTTTTGTAGATTAAAGGC 0.308 XYLT2 64132 broad.mit.edu 37 17 48435599 48435599 + Missense_Mutation SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:48435599T>C uc002iqo.2 + 10 2082 c.1973T>C c.(1972-1974)CTT>CCT p.L658P XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 658 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) AAAGAGCGTCTTTTCCGGAAC 0.443 RNF43 54894 broad.mit.edu 37 17 56492699 56492699 + Silent SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:56492699T>C uc002iwf.2 - 1 2196 c.240A>G c.(238-240)GGA>GGG p.G80G RNF43_uc010wnv.1_Silent_p.G80G|RNF43_uc002iwh.3_Silent_p.G80G|RNF43_uc002iwg.3_Silent_p.G80G|RNF43_uc010dcw.2_Intron NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 80 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCATTAATTTTCCTTCTGCTG 0.378 DDX5 1655 broad.mit.edu 37 17 62502217 62502217 + Missense_Mutation SNP G C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr17:62502217G>C uc002jek.2 - 1 268 c.21C>G c.(19-21)GAC>GAG p.D7E CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_5'Flank|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.D7E|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 7 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CGCGGTCTCGGTCACTCGAAT 0.657 T ETV4 prostate LAMA1 284217 broad.mit.edu 37 18 6956660 6956660 + Missense_Mutation SNP A T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr18:6956660A>T uc002knm.2 - 56 8163 c.8069T>A c.(8068-8070)CTC>CAC p.L2690H LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.L143H|LAMA1_uc010wzj.1_Missense_Mutation_p.L2166H NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2690 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTGGCAAGAGCTTGCTGTC 0.552 RIT2 6014 broad.mit.edu 37 18 40554049 40554049 + Missense_Mutation SNP G T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr18:40554049G>T uc002lav.2 - 3 397 c.224C>A c.(223-225)ACT>AAT p.T75N RIT2_uc010dnf.2_Missense_Mutation_p.T75N NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 75 GTP (By similarity). nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 CTGGCCAGCAGTGTCCAAGAT 0.368 BCL2 596 broad.mit.edu 37 18 60795928 60795929 + Frame_Shift_Del DEL AG - - TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr18:60795928_60795929delAG uc002lit.1 - 3 1142_1143 c.649_650delCT c.(649-651)CTGfs p.L217fs BCL2_uc002liu.1_Frame_Shift_Del_p.L217fs NM_000633 NP_000624 P10415 BCL2_HUMAN B-cell lymphoma protein 2 alpha isoform 217 Helical; (Potential). activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1) 1 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) CAGAGTCTTCAGAGACAGCCAG 0.545 T IGH@ NHL|CLL DNM2 1785 broad.mit.edu 37 19 10886491 10886491 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr19:10886491G>A uc002mps.1 + 4 662 c.498G>A c.(496-498)CGG>CGA p.R166R DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.R166R|DNM2_uc002mpv.1_Silent_p.R166R|DNM2_uc002mpu.1_Silent_p.R166R|DNM2_uc010dxl.1_Silent_p.R166R NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 166 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TCATCAGCCGGGAGAGCAGCC 0.607 RGL3 57139 broad.mit.edu 37 19 11526753 11526753 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr19:11526753G>A uc002mrp.2 - 5 561 c.497C>T c.(496-498)TCG>TTG p.S166L RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.S166L NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 166 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 GCCCAGGTCCGAATGGGCAGG 0.617 ZNF433 163059 broad.mit.edu 37 19 12126556 12126556 + Frame_Shift_Del DEL A - - TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr19:12126556delA uc002msy.1 - 4 1297 c.1126delT c.(1126-1128)TATfs p.Y376fs uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.Y341fs NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 376 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTGGGAGAATAAAAGGCTTTC 0.373 PEG3 5178 broad.mit.edu 37 19 57325278 57325278 + Missense_Mutation SNP G C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr19:57325278G>C uc002qnu.2 - 7 4883 c.4532C>G c.(4531-4533)ACA>AGA p.T1511R ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1482R|PEG3_uc002qnv.2_Missense_Mutation_p.T1511R|PEG3_uc002qnw.2_Missense_Mutation_p.T1387R|PEG3_uc002qnx.2_Missense_Mutation_p.T1385R|PEG3_uc010etr.2_Missense_Mutation_p.T1511R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1511 Glu-rich.|C2H2-type 11. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAAGGTTTCTGTGCATTCATG 0.483 SEMA4F 10505 broad.mit.edu 37 2 74900663 74900663 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:74900663G>A uc002sna.1 + 6 741 c.630G>A c.(628-630)GAG>GAA p.E210E SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Silent_p.E177E|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 210 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTCGTGCCGAGGACTGGATTC 0.612 REV1 51455 broad.mit.edu 37 2 100065960 100065960 + Missense_Mutation SNP G C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:100065960G>C uc002tad.2 - 4 400 c.188C>G c.(187-189)TCC>TGC p.S63C REV1_uc002tac.2_Missense_Mutation_p.S63C|REV1_uc002tae.1_Missense_Mutation_p.S42C NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 63 BRCT. 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 TTCCTCAGCGGAAGGATCTGC 0.313 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage CNTNAP5 129684 broad.mit.edu 37 2 125530548 125530548 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:125530548G>A uc002tno.2 + 17 3067 c.2703G>A c.(2701-2703)TCG>TCA p.S901S CNTNAP5_uc010flu.2_Silent_p.S902S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 901 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGGAGACGTCGGAGGAGGGCC 0.532 POTEE 445582 broad.mit.edu 37 2 132021658 132021658 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:132021658G>A uc002tsn.2 + 15 2682 c.2630G>A c.(2629-2631)CGC>CAC p.R877H PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R477H|POTEE_uc002tsl.2_Missense_Mutation_p.R459H|POTEE_uc010fmy.1_Missense_Mutation_p.R341H NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 877 Actin-like. ATP binding 0 GCCACCCTGCGCCTAGACCTG 0.612 TTN 7273 broad.mit.edu 37 2 179458769 179458769 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:179458769G>A uc010zfg.1 - 246 50871 c.50647C>T c.(50647-50649)CGT>TGT p.R16883C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10578C|TTN_uc010zfi.1_Missense_Mutation_p.R10511C|TTN_uc010zfj.1_Missense_Mutation_p.R10386C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17810 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) GAATCTGAACGTTTGGCCTTG 0.423 CCDC141 285025 broad.mit.edu 37 2 179720232 179720232 + Frame_Shift_Del DEL T - - TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:179720232delT uc002unf.1 - 9 1234 c.1177delA c.(1177-1179)ACCfs p.T393fs NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 393 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GAATCAGAGGTTTTATTACTA 0.284 WDR75 84128 broad.mit.edu 37 2 190313200 190313200 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:190313200C>T uc002uql.1 + 2 242 c.182C>T c.(181-183)ACT>ATT p.T61I WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 61 WD 2. nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AATCTGGTGACTGGAATCCAG 0.398 TRIP12 9320 broad.mit.edu 37 2 230683176 230683176 + Silent SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:230683176T>C uc002vpw.1 - 8 1468 c.1359A>G c.(1357-1359)CAA>CAG p.Q453Q TRIP12_uc002vpx.1_Silent_p.Q501Q|TRIP12_uc002vpy.1_Silent_p.Q156Q|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.Q459Q NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 453 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CCTGAAGCTGTTGACTTTCAT 0.373 ILKAP 80895 broad.mit.edu 37 2 239079263 239079263 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr2:239079263C>T uc002vxv.2 - 12 1223 c.1093G>A c.(1093-1095)GCA>ACA p.A365T ILKAP_uc010zns.1_Missense_Mutation_p.A297T|ILKAP_uc002vxw.2_Missense_Mutation_p.A245T NM_030768 NP_110395 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated protein 365 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding ovary(3) 3 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) TTGCAGGCTGCTTCGTAGCGG 0.637 PTPRA 5786 broad.mit.edu 37 20 3002794 3002794 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr20:3002794G>A uc010zqd.1 + 14 1606 c.1289G>A c.(1288-1290)GGC>GAC p.G430D PTPRA_uc002whj.2_Missense_Mutation_p.G419D|PTPRA_uc002whk.2_Missense_Mutation_p.G410D|PTPRA_uc002whl.2_Missense_Mutation_p.G410D|PTPRA_uc002whm.2_Missense_Mutation_p.G186D|PTPRA_uc002whn.2_Missense_Mutation_p.G410D|PTPRA_uc002who.2_Missense_Mutation_p.G82D NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 419 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 ACCCCGATCGGCATGCTCAAG 0.572 RIN2 54453 broad.mit.edu 37 20 19981289 19981289 + Silent SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr20:19981289C>T uc002wro.1 + 11 2433 c.2397C>T c.(2395-2397)AAC>AAT p.N799N RIN2_uc010gcu.1_Silent_p.N366N|RIN2_uc010gcv.1_Silent_p.N593N NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 799 Ras-associating. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 AGGAGGTCAACAGTGGTTGCA 0.507 AURKA 6790 broad.mit.edu 37 20 54963223 54963223 + Missense_Mutation SNP C T T rs6069717 TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr20:54963223C>T uc002xxd.1 - 4 597 c.31G>A c.(31-33)GGA>AGA p.G11R AURKA_uc002xxe.1_Missense_Mutation_p.G11R|AURKA_uc002xxf.1_Missense_Mutation_p.G11R|AURKA_uc002xxg.1_Missense_Mutation_p.G11R|AURKA_uc002xxh.1_Missense_Mutation_p.G11R|AURKA_uc002xxi.1_Missense_Mutation_p.G11R|AURKA_uc002xxj.1_Missense_Mutation_p.G11R|AURKA_uc002xxk.1_Missense_Mutation_p.G11R|AURKA_uc010zzd.1_RNA NM_198433 NP_940835 O14965 AURKA_HUMAN serine/threonine protein kinase 6 11 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1) 8 Colorectal(105;0.202) TTAACAGGTCCTGAAATGCAG 0.383 MORC3 23515 broad.mit.edu 37 21 37732374 37732374 + Missense_Mutation SNP A G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr21:37732374A>G uc002yvi.2 + 11 1406 c.1330A>G c.(1330-1332)AGA>GGA p.R444G NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 444 CW-type. cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 CCCACAGTTCAGGTACCATAG 0.433 SH3BGR 6450 broad.mit.edu 37 21 40883645 40883645 + Silent SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr21:40883645C>T uc002yya.2 + 6 717 c.663C>T c.(661-663)GCC>GCT p.A221A SH3BGR_uc002yxz.2_Silent_p.A110A NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 221 Glu-rich (acidic). protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AAGGGGAAGCCGAGGAGGAGG 0.448 TPST2 8459 broad.mit.edu 37 22 26937392 26937392 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr22:26937392G>A uc003acv.2 - 2 373 c.205C>T c.(205-207)CCG>TCG p.P69S TPST2_uc003acw.2_Missense_Mutation_p.P69S|TPST2_uc003acx.2_Missense_Mutation_p.P69S|TPST2_uc011akf.1_Missense_Mutation_p.P69S NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 69 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 AAGATGAGCGGCATGGCCTTG 0.701 CNTN4 152330 broad.mit.edu 37 3 3076439 3076439 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr3:3076439C>T uc003bpc.2 + 16 2128 c.1907C>T c.(1906-1908)ACT>ATT p.T636I CNTN4_uc003bpb.1_Missense_Mutation_p.T307I|CNTN4_uc003bpd.1_Missense_Mutation_p.T636I|CNTN4_uc003bpe.2_Missense_Mutation_p.T308I|CNTN4_uc003bpf.2_Missense_Mutation_p.T307I NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 636 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAAGCCAGGACTCCATTCTCC 0.532 ITIH4 3700 broad.mit.edu 37 3 52853785 52853785 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr3:52853785C>T uc003dfz.2 - 16 1972 c.1936G>A c.(1936-1938)GGA>AGA p.G646R ITIH4_uc011bel.1_Intron|ITIH4_uc003dfy.2_Intron|ITIH4_uc011bem.1_Missense_Mutation_p.G651R|ITIH4_uc011ben.1_Intron NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 646 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTATTCCATCCTCTTCTTGGA 0.547 ROBO1 6091 broad.mit.edu 37 3 78683176 78683176 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr3:78683176G>A uc003dqe.2 - 24 3598 c.3390C>T c.(3388-3390)GAC>GAT p.D1130D ROBO1_uc003dqb.2_Silent_p.D1091D|ROBO1_uc003dqc.2_Silent_p.D1030D|ROBO1_uc003dqd.2_Silent_p.D1085D|ROBO1_uc010hoh.2_Silent_p.D322D|ROBO1_uc011bgl.1_Silent_p.D702D NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1130 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GAGGAACTGTGTCATTTGCTC 0.393 ARL6 84100 broad.mit.edu 37 3 97499015 97499015 + Missense_Mutation SNP A T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr3:97499015A>T uc003drv.2 + 4 449 c.136A>T c.(136-138)AAT>TAT p.N46Y ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.N46Y|ARL6_uc010hoy.2_Missense_Mutation_p.N46Y NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 46 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) TCAATCTCAAAATATCCTTCC 0.308 Bardet-Biedl_syndrome NPHP3 27031 broad.mit.edu 37 3 132432101 132432101 + Silent SNP G A A rs138124482 TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr3:132432101G>A uc003epe.1 - 6 1064 c.987C>T c.(985-987)TGC>TGT p.C329C NPHP3_uc003epf.1_Silent_p.C84C NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 329 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CCATTGTCTCGCACATTCTCT 0.289 KIAA0226 9711 broad.mit.edu 37 3 197431552 197431552 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr3:197431552G>A uc003fyc.2 - 4 507 c.324C>T c.(322-324)AAC>AAT p.N108N KIAA0226_uc003fyd.3_Silent_p.N48N|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.2_Translation_Start_Site|KIAA0226_uc003fyg.2_Silent_p.N101N NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 108 RUN. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TGCTCTGGTCGTTCTCGTGCA 0.567 TACC3 10460 broad.mit.edu 37 4 1729779 1729779 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr4:1729779C>T uc003gdo.2 + 4 758 c.650C>T c.(649-651)CCG>CTG p.P217L TACC3_uc010ibz.2_Missense_Mutation_p.P217L|TACC3_uc003gdp.2_Intron NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 217 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GCGGAGACTCCGCACGGAGCC 0.597 SLIT2 9353 broad.mit.edu 37 4 20597371 20597371 + Silent SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr4:20597371C>T uc003gpr.1 + 31 3438 c.3234C>T c.(3232-3234)GAC>GAT p.D1078D SLIT2_uc003gps.1_Silent_p.D1070D NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1078 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.D1078D(1) central_nervous_system(4)|skin(4)|ovary(3) 11 TCGATTTTGACGACTGCCAAG 0.468 PALLD 23022 broad.mit.edu 37 4 169845564 169845564 + Nonsense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr4:169845564C>T uc011cjx.1 + 19 3428 c.3217C>T c.(3217-3219)CGA>TGA p.R1073* CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Nonsense_Mutation_p.R1056*|PALLD_uc003irv.2_Nonsense_Mutation_p.R674*|PALLD_uc003irw.2_Nonsense_Mutation_p.R558*|PALLD_uc003irx.2_Nonsense_Mutation_p.R282* NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 1280 Ig-like C2-type 5.|Interaction with EZR. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CAGCACTGACCGAGTGAGGTA 0.418 Pancreatic_Cancer_Familial_Clustering_of EDIL3 10085 broad.mit.edu 37 5 83402578 83402578 + Missense_Mutation SNP G T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr5:83402578G>T uc003kio.1 - 6 959 c.540C>A c.(538-540)CAC>CAA p.H180Q EDIL3_uc003kip.1_Missense_Mutation_p.H170Q NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 180 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) AAAGAGCTCGGTGAGTAGAGG 0.418 WDR36 134430 broad.mit.edu 37 5 110461398 110461398 + Missense_Mutation SNP G C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr5:110461398G>C uc003kpd.2 + 22 2728 c.2611G>C c.(2611-2613)GAA>CAA p.E871Q WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 871 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TGGGTCCATAGAAGTTATGCA 0.443 GABRA1 2554 broad.mit.edu 37 5 161300157 161300157 + Nonsense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr5:161300157G>A uc010jiw.2 + 6 758 c.290G>A c.(289-291)TGG>TAG p.W97* GABRA1_uc010jix.2_Nonsense_Mutation_p.W97*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.W97*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.W97*|GABRA1_uc010jja.2_Nonsense_Mutation_p.W97*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.W97* NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 97 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CGTCAAAGCTGGAAGGATGAA 0.363 N4BP3 23138 broad.mit.edu 37 5 177547670 177547670 + Silent SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr5:177547670C>T uc003mik.1 + 3 1069 c.822C>T c.(820-822)GGC>GGT p.G274G N4BP3_uc003mil.1_5'Flank NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 274 cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGGCCTTGGCGATGAGGACG 0.662 BTN2A2 10385 broad.mit.edu 37 6 26385257 26385257 + Missense_Mutation SNP G A A rs143653188 byFrequency TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr6:26385257G>A uc003nhq.2 + 3 195 c.109G>A c.(109-111)GTG>ATG p.V37M BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.V37M|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.V37M|BTN2A2_uc003nht.2_Missense_Mutation_p.V37M NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 37 Extracellular (Potential).|Ig-like V-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GTTTACTGTCGTGGGGCCAGC 0.438 CUL9 23113 broad.mit.edu 37 6 43160945 43160945 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr6:43160945C>T uc003ouk.2 + 9 2462 c.2387C>T c.(2386-2388)GCG>GTG p.A796V CUL9_uc003oul.2_Missense_Mutation_p.A796V|CUL9_uc010jyk.2_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 796 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding p.A796T(1) ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GCTGGGCTGGCGGTGAGTACA 0.567 BCKDHB 594 broad.mit.edu 37 6 80838915 80838915 + Silent SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr6:80838915T>C uc003pjd.2 + 3 379 c.312T>C c.(310-312)TTT>TTC p.F104F BCKDHB_uc003pje.2_Silent_p.F104F NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 104 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GTGGAGTCTTTAGATGCACTG 0.259 AHI1 54806 broad.mit.edu 37 6 135748441 135748441 + Silent SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr6:135748441T>C uc003qgi.2 - 20 3012 c.2628A>G c.(2626-2628)GAA>GAG p.E876E AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Silent_p.E326E|AHI1_uc003qgh.2_Silent_p.E876E|AHI1_uc003qgj.2_Silent_p.E876E|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Silent_p.E876E NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 876 WD 6. adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGGCTACTTGTTCTCCTAAAT 0.323 RPS6KA2 6196 broad.mit.edu 37 6 166912027 166912027 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr6:166912027C>T uc003qvb.1 - 8 935 c.716G>A c.(715-717)AGT>AAT p.S239N RPS6KA2_uc011ego.1_Missense_Mutation_p.S150N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S150N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S247N|RPS6KA2_uc003qvd.1_Missense_Mutation_p.S264N NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 239 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CCAGTCGGCACTCTGCGTGTG 0.637 IKZF1 10320 broad.mit.edu 37 7 50358674 50358674 + Missense_Mutation SNP G T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:50358674G>T uc003tow.3 + 3 185 c.17G>T c.(16-18)GGT>GTT p.G6V IKZF1_uc003tox.3_Missense_Mutation_p.G6V|IKZF1_uc003toy.3_Missense_Mutation_p.G6V|IKZF1_uc011kck.1_Missense_Mutation_p.G6V|IKZF1_uc003tov.1_Missense_Mutation_p.G6V NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 6 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(24) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCTGATGAGGGTCAAGACATG 0.433 D ALL SEPT14 346288 broad.mit.edu 37 7 55912359 55912359 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:55912359G>A uc003tqz.2 - 4 345 c.228C>T c.(226-228)AAC>AAT p.N76N NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 76 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TATCTTTCAAGTTAGTATTAA 0.353 EIF4H 7458 broad.mit.edu 37 7 73609098 73609098 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:73609098G>A uc003uad.1 + 6 505 c.497G>A c.(496-498)AGG>AAG p.R166K RFC2_uc011kfa.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Missense_Mutation_p.R146K|EIF4H_uc003uaf.1_RNA NM_022170 NP_071496 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 166 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 TTAGGGGGCAGGGGAGGTAGT 0.542 MUC17 140453 broad.mit.edu 37 7 100683326 100683326 + Missense_Mutation SNP A G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:100683326A>G uc003uxp.1 + 3 8682 c.8629A>G c.(8629-8631)AGC>GGC p.S2877G MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2877 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46. 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) TATACCTGTCAGCACCACGCC 0.478 RELN 5649 broad.mit.edu 37 7 103338368 103338368 + Missense_Mutation SNP C T T rs114926265 byFrequency TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:103338368C>T uc003vca.2 - 10 1235 c.1075G>A c.(1075-1077)GTT>ATT p.V359I RELN_uc010liz.2_Missense_Mutation_p.V359I NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 359 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTTCTAAAACGACTTGTCTG 0.428 SLC26A3 1811 broad.mit.edu 37 7 107415299 107415299 + Nonsense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:107415299G>A uc003ver.2 - 16 1907 c.1696C>T c.(1696-1698)CGA>TGA p.R566* SLC26A3_uc003ves.2_Nonsense_Mutation_p.R531* NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 566 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 CGTAGAATTCGAAGTGGACTA 0.398 PPP1R3A 5506 broad.mit.edu 37 7 113558926 113558926 + Missense_Mutation SNP A C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:113558926A>C uc010ljy.1 - 1 157 c.126T>G c.(124-126)AGT>AGG p.S42R NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 42 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 AACCTCGTCTACTTGGTTGAG 0.373 IMPDH1 3614 broad.mit.edu 37 7 128034510 128034510 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr7:128034510C>T uc011kol.1 - 12 1545 c.1439G>A c.(1438-1440)CGG>CAG p.R480Q IMPDH1_uc011kom.1_Missense_Mutation_p.R475Q|IMPDH1_uc003vmt.2_Missense_Mutation_p.R455Q|IMPDH1_uc003vmu.2_Missense_Mutation_p.R565Q|IMPDH1_uc003vmw.2_Missense_Mutation_p.R555Q|IMPDH1_uc011kon.1_Missense_Mutation_p.R532Q|IMPDH1_uc003vmv.2_Missense_Mutation_p.R529Q|IMPDH1_uc003vmx.2_Missense_Mutation_p.R488Q|IMPDH1_uc003vmy.2_Missense_Mutation_p.R496Q|uc011koo.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 480 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CAGCACTCACCGAAGGACAGA 0.582 KCNB2 9312 broad.mit.edu 37 8 73849104 73849104 + Missense_Mutation SNP A T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr8:73849104A>T uc003xzb.2 + 3 2102 c.1514A>T c.(1513-1515)AAC>ATC p.N505I NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 505 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) ACAAGCTCCAACAAGTCTTTC 0.562 CSMD3 114788 broad.mit.edu 37 8 113256734 113256734 + Missense_Mutation SNP C G G TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr8:113256734C>G uc003ynu.2 - 65 10450 c.10291G>C c.(10291-10293)GGG>CGG p.G3431R CSMD3_uc003yns.2_Missense_Mutation_p.G2633R|CSMD3_uc003ynt.2_Missense_Mutation_p.G3391R|CSMD3_uc011lhx.1_Missense_Mutation_p.G3262R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3431 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGTGTATACCCATGAGATGGA 0.428 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) GPR20 2843 broad.mit.edu 37 8 142367058 142367058 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr8:142367058G>A uc003ywf.2 - 2 1055 c.966C>T c.(964-966)AGC>AGT p.S322S NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 322 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CCACGTCACCGCTGCTGGGCT 0.657 TMEM2 23670 broad.mit.edu 37 9 74319626 74319626 + Nonsense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr9:74319626G>A uc011lsa.1 - 18 3619 c.3079C>T c.(3079-3081)CAG>TAG p.Q1027* TMEM2_uc011lrz.1_Nonsense_Mutation_p.Q20*|TMEM2_uc010mos.2_Nonsense_Mutation_p.Q964*|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1027 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GCAGCCTTCTGATTAATACCT 0.483 ZNF883 169834 broad.mit.edu 37 9 115760403 115760403 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr9:115760403C>T uc011lwy.1 - 5 1376 c.137G>A c.(136-138)TGT>TAT p.C46Y NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 46 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGACTTACCACATATTTTACA 0.373 ZNF883 169834 broad.mit.edu 37 9 115760511 115760511 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr9:115760511G>A uc011lwy.1 - 5 1268 c.29C>T c.(28-30)GCG>GTG p.A10V NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATATGGGTTCGCGGTCATATA 0.368 PRPF4 9128 broad.mit.edu 37 9 116038922 116038922 + Missense_Mutation SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr9:116038922G>A uc004bgx.2 + 2 175 c.125G>A c.(124-126)CGT>CAT p.R42H FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.2_Missense_Mutation_p.R41H NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 42 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 GAGAGGGAGCGTCTGGCCAAA 0.458 PKN3 29941 broad.mit.edu 37 9 131482499 131482499 + Silent SNP G A A TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr9:131482499G>A uc004bvw.2 + 21 2787 c.2394G>A c.(2392-2394)CCG>CCA p.P798P PKN3_uc010myh.2_Silent_p.P798P|PKN3_uc011mbk.1_Silent_p.P348P NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 798 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 AGAAGTGCCCGGAGAAGCGCC 0.657 KCNT1 57582 broad.mit.edu 37 9 138662162 138662162 + Silent SNP G A A rs138352399 byFrequency TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chr9:138662162G>A uc011mdq.1 + 17 1712 c.1638G>A c.(1636-1638)CCG>CCA p.P546P KCNT1_uc011mdr.1_Silent_p.P373P|KCNT1_uc010nbf.2_Silent_p.P501P|KCNT1_uc004cgo.1_Silent_p.P295P NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 546 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AGGAGTCTCCGGAGCAGTGGC 0.682 WWC3 55841 broad.mit.edu 37 X 10058926 10058926 + Missense_Mutation SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chrX:10058926C>T uc004csx.3 + 6 691 c.493C>T c.(493-495)CGG>TGG p.R165W WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 165 ovary(4) 4 GAAGGAGAGGCGGGACCTGAT 0.423 IGSF1 3547 broad.mit.edu 37 X 130409145 130409145 + Silent SNP C T T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chrX:130409145C>T uc004ewd.2 - 17 3538 c.3300G>A c.(3298-3300)AAG>AAA p.K1100K IGSF1_uc004ewe.3_Silent_p.K1094K|IGSF1_uc004ewf.2_Silent_p.K1080K NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1100 Extracellular (Potential).|Ig-like C2-type 11. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 GAGCCCCCTCCTTCAACAGGA 0.547 MAGEC1 9947 broad.mit.edu 37 X 140995944 140995944 + Silent SNP T C C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx f4960945-c464-49c2-8ad6-d73a6fa47b20 59562be7-e77a-4b64-b286-5980b286641a g.chrX:140995944T>C uc004fbt.2 + 4 3040 c.2754T>C c.(2752-2754)TTT>TTC p.F918F MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 918 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGGCGCGGTTTCTTCTCCTCA 0.483 HNSCC(15;0.026)