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 SERINC2 347735 broad.mit.edu 37 1 31905860 31905860 + Missense_Mutation SNP G A A rs139208281 byFrequency TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:31905860G>A uc010ogh.1 + 9 1273 c.1072G>A c.(1072-1074)GAG>AAG p.E358K SERINC2_uc010ogg.1_Missense_Mutation_p.E355K|SERINC2_uc001bst.2_Missense_Mutation_p.E354K|SERINC2_uc001bsu.2_Missense_Mutation_p.E299K|SERINC2_uc001bsv.2_Missense_Mutation_p.E299K NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 354 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) GATGCAGACCGAGGAGTGCCC 0.617 ZC3H12A 80149 broad.mit.edu 37 1 37948876 37948876 + Silent SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:37948876C>T uc001cbb.3 + 6 1614 c.1464C>T c.(1462-1464)GGC>GGT p.G488G ZC3H12A_uc001cbc.1_Silent_p.G283G NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 488 Pro-rich. angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGCCTTTGGCCGGGCCATGG 0.662 MFSD2A 84879 broad.mit.edu 37 1 40432533 40432533 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:40432533C>T uc001cev.2 + 8 1076 c.895C>T c.(895-897)CGG>TGG p.R299W MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.2_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.1_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 299 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 CCGGGGCCTACGGCTGGTCAT 0.572 FAM151A 338094 broad.mit.edu 37 1 55078368 55078368 + Silent SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:55078368G>T uc001cxn.2 - 5 723 c.591C>A c.(589-591)GTC>GTA p.V197V ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 197 integral to membrane 0 ACTTCTCCTGGACCAGGGCCA 0.562 TM2D1 83941 broad.mit.edu 37 1 62190705 62190705 + Missense_Mutation SNP T A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:62190705T>A uc001czz.1 - 1 391 c.88A>T c.(88-90)ACA>TCA p.T30S NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN beta-amyloid binding protein precursor 30 apoptosis ovary(1) 1 CAGGGTCCTGTAGTGACTGAG 0.647 HRNR 388697 broad.mit.edu 37 1 152193139 152193139 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:152193139G>A uc001ezt.1 - 3 1042 c.966C>T c.(964-966)CAC>CAT p.H322H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 322 3. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGTTGGCCGTGGCTGGAGG 0.607 YY1AP1 55249 broad.mit.edu 37 1 155629971 155629971 + Missense_Mutation SNP A T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:155629971A>T uc001fln.2 - 11 1892 c.1868T>A c.(1867-1869)GTC>GAC p.V623D YY1AP1_uc001flg.2_Missense_Mutation_p.V362D|YY1AP1_uc010pgg.1_Missense_Mutation_p.V462D|YY1AP1_uc010pgh.1_Missense_Mutation_p.V566D|YY1AP1_uc010pgi.1_Missense_Mutation_p.V715D|YY1AP1_uc001flh.2_Missense_Mutation_p.V695D|YY1AP1_uc009wqt.2_Missense_Mutation_p.V546D|YY1AP1_uc001flk.2_Missense_Mutation_p.V566D|YY1AP1_uc001fll.2_Missense_Mutation_p.V577D|YY1AP1_uc009wqv.2_Missense_Mutation_p.V294D|YY1AP1_uc001flm.2_Missense_Mutation_p.V566D|YY1AP1_uc001fli.2_Missense_Mutation_p.V577D|YY1AP1_uc009wqu.2_Missense_Mutation_p.V410D|YY1AP1_uc001flj.2_Missense_Mutation_p.V557D|YY1AP1_uc009wqw.2_Missense_Mutation_p.V546D|YY1AP1_uc001flo.2_Missense_Mutation_p.V511D|YY1AP1_uc001flp.2_Missense_Mutation_p.V577D NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 623 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGCCGCATTGACAGGCTGGAT 0.557 OLFML2B 25903 broad.mit.edu 37 1 161987297 161987297 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:161987297G>A uc001gbu.2 - 3 863 c.439C>T c.(439-441)CTC>TTC p.L147F OLFML2B_uc010pkq.1_Missense_Mutation_p.L147F NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 147 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ATTGTGGAGAGCTATGAAACA 0.522 LGR6 59352 broad.mit.edu 37 1 202249926 202249926 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:202249926G>A uc001gxu.2 + 6 662 c.662G>A c.(661-663)CGC>CAC p.R221H LGR6_uc001gxv.2_Missense_Mutation_p.R169H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 221 LRR 6.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 CATAACAACCGCATCCAGCAT 0.567 LAMB3 3914 broad.mit.edu 37 1 209797264 209797264 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr1:209797264G>A uc001hhg.2 - 14 2448 c.2058C>T c.(2056-2058)GAC>GAT p.D686D LAMB3_uc009xco.2_Silent_p.D686D|LAMB3_uc001hhh.2_Silent_p.D686D|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 686 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TGAAGCTTCTGTCAAGACTCT 0.547 VDAC2 7417 broad.mit.edu 37 10 76970926 76970926 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr10:76970926C>T uc001jwz.2 + 2 169 c.10C>T c.(10-12)CAC>TAC p.H4Y VDAC2_uc010qld.1_5'UTR|VDAC2_uc001jxa.2_5'UTR|VDAC2_uc010qle.1_5'UTR NM_003375 NP_003366 P45880 VDAC2_HUMAN voltage-dependent anion channel 2 4 mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) CATGGCGACCCACGGACAGAC 0.627 PTEN 5728 broad.mit.edu 37 10 89690846 89690846 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr10:89690846G>T uc001kfb.2 + 5 1284 c.253G>T c.(253-255)GTT>TTT p.V85F NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 85 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(3)|p.V85A(2)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V85G(1)|p.N82_P95del(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TAATTGCAGAGGTAGGTATGA 0.318 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) SEC23IP 11196 broad.mit.edu 37 10 121668628 121668628 + Missense_Mutation SNP A G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr10:121668628A>G uc001leu.1 + 5 1249 c.1177A>G c.(1177-1179)ATG>GTG p.M393V SEC23IP_uc010qtc.1_Missense_Mutation_p.M182V NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 393 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GACAATTGTTATGCACAATCC 0.303 TH 7054 broad.mit.edu 37 11 2186970 2186970 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr11:2186970G>A uc001lvq.2 - 12 1240 c.1221C>T c.(1219-1221)TTC>TTT p.F407F TH_uc001lvp.2_Silent_p.F403F|TH_uc001lvr.2_Silent_p.F376F|TH_uc010qxj.1_Silent_p.F380F|TH_uc001lvs.2_Silent_p.F282F|TH_uc001lvt.2_Silent_p.F286F|TH_uc009ydh.1_RNA NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 407 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) TACACAGCCCGAACTCCACCG 0.667 OR51A4 401666 broad.mit.edu 37 11 4967921 4967921 + Missense_Mutation SNP A G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr11:4967921A>G uc010qys.1 - 1 410 c.410T>C c.(409-411)ATC>ACC p.I137T NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTTGTCAGGATTGAGGTGTA 0.428 NAV2 89797 broad.mit.edu 37 11 19961278 19961278 + Missense_Mutation SNP A G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr11:19961278A>G uc010rdm.1 + 9 2535 c.2174A>G c.(2173-2175)CAC>CGC p.H725R NAV2_uc001mpp.2_Missense_Mutation_p.H638R|NAV2_uc001mpr.3_Missense_Mutation_p.H702R NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 725 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GAGCCCAGCCACTTCACCAAG 0.532 SPRYD5 84767 broad.mit.edu 37 11 55655591 55655591 + Missense_Mutation SNP C A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr11:55655591C>A uc010rip.1 + 4 683 c.591C>A c.(589-591)CAC>CAA p.H197Q SPRYD5_uc010riq.1_Missense_Mutation_p.H54Q NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 197 intracellular zinc ion binding 0 all_epithelial(135;0.226) AGCAACATCACTTGGAAAGGC 0.423 BIN2 51411 broad.mit.edu 37 12 51696870 51696870 + Splice_Site SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr12:51696870C>T uc001ryg.2 - 3 269 c.217_splice c.e3+1 p.V73_splice BIN2_uc009zlz.2_Splice_Site_p.V73_splice|BIN2_uc001ryh.2_Splice_Site|BIN2_uc010sng.1_Splice_Site_p.V47_splice NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 cytoplasm protein binding ovary(1) 1 GCATTGCCCACCTTTGACTGC 0.433 OR6C75 390323 broad.mit.edu 37 12 55759400 55759400 + Missense_Mutation SNP C G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr12:55759400C>G uc010spk.1 + 1 506 c.506C>G c.(505-507)TCC>TGC p.S169C NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 TTCTGTGCCTCCAATGTAATT 0.433 FGD6 55785 broad.mit.edu 37 12 95604181 95604181 + Silent SNP T C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr12:95604181T>C uc001tdp.3 - 2 1103 c.879A>G c.(877-879)TCA>TCG p.S293S FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 293 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CTTTGACTTCTGATTTCTTAC 0.388 TBX5 6910 broad.mit.edu 37 12 114804065 114804065 + Missense_Mutation SNP C A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr12:114804065C>A uc001tvo.2 - 8 1382 c.887G>T c.(886-888)GGT>GTT p.G296V TBX5_uc001tvp.2_Missense_Mutation_p.G296V|TBX5_uc001tvq.2_Missense_Mutation_p.G246V|TBX5_uc010syv.1_Missense_Mutation_p.G296V NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 296 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GCCGGAAACACCATTCTCACA 0.552 POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA - - TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr12:133220099_133220100delCA uc001uks.1 - 34 4381_4382 c.4337_4338delTG c.(4336-4338)GTGfs p.V1446fs POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1446 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage FAM124A 220108 broad.mit.edu 37 13 51825705 51825705 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr13:51825705G>A uc001vfg.1 + 3 333 c.202G>A c.(202-204)GTC>ATC p.V68I FAM124A_uc001vfe.2_Missense_Mutation_p.V68I|FAM124A_uc001vff.1_Missense_Mutation_p.V104I NM_145019 NP_659456 Q86V42 F124A_HUMAN hypothetical protein LOC220108 68 central_nervous_system(1) 1 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) CATCGACAACGTCCTGGCGTG 0.682 FOXG1 2290 broad.mit.edu 37 14 29236624 29236626 + In_Frame_Del DEL CAC - - TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr14:29236624_29236626delCAC uc001wqe.2 + 1 338_340 c.139_141delCAC c.(139-141)CACdel p.H57del NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 57 His-rich. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) ccacccccagcaccaccaccacc 0.241 FOXA1 3169 broad.mit.edu 37 14 38061904 38061904 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr14:38061904C>T uc001wuf.2 - 2 397 c.85G>A c.(85-87)GTC>ATC p.V29I FOXA1_uc010tpz.1_5'UTR NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 29 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CTGACCGGGACGGAGGAGTAG 0.632 UNC13C 440279 broad.mit.edu 37 15 54556392 54556392 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr15:54556392G>A uc002ack.2 + 7 3475 c.3475G>A c.(3475-3477)GGT>AGT p.G1159S UNC13C_uc002acl.2_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1159 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTCTAAACATGGTGCCGAAGA 0.398 FAM108C1 58489 broad.mit.edu 37 15 81041941 81041941 + Silent SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr15:81041941C>T uc002bfu.2 + 2 797 c.678C>T c.(676-678)TGC>TGT p.C226C FAM108C1_uc002bft.2_Intron NM_021214 NP_067037 Q6PCB6 F108C_HUMAN hypothetical protein LOC58489 226 hydrolase activity 0 GGTATGAATGCGCAGCGGTAA 0.507 SLC28A1 9154 broad.mit.edu 37 15 85448820 85448820 + Silent SNP A T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr15:85448820A>T uc002blg.2 + 8 856 c.654A>T c.(652-654)GGA>GGT p.G218G SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.2_Silent_p.G218G|SLC28A1_uc010upe.1_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 218 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TTGTACTTGGACTCCTCGTCA 0.567 IL4R 3566 broad.mit.edu 37 16 27357926 27357926 + Missense_Mutation SNP A T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr16:27357926A>T uc002don.2 + 6 742 c.500A>T c.(499-501)AAC>ATC p.N167I IL4R_uc002dom.2_Missense_Mutation_p.N167I|IL4R_uc002dop.3_Missense_Mutation_p.N152I|IL4R_uc010bxy.2_Missense_Mutation_p.N167I|IL4R_uc002doo.2_Missense_Mutation_p.T9S NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 167 Extracellular (Potential).|Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 TGGAGTGAAAACGACCCGGCA 0.542 ZNF319 57567 broad.mit.edu 37 16 58030933 58030933 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr16:58030933C>T uc002emx.1 - 2 1860 c.1237G>A c.(1237-1239)GAG>AAG p.E413K NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 413 C2H2-type 11; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGCAGCAGCTCGGCAGATTGG 0.647 HYDIN 54768 broad.mit.edu 37 16 70917863 70917863 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr16:70917863G>A uc002ezr.2 - 59 10064 c.9936C>T c.(9934-9936)GCC>GCT p.A3312A NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3313 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AAAGAATGCCGGCAGGGTGGA 0.488 MYBBP1A 10514 broad.mit.edu 37 17 4449142 4449142 + Missense_Mutation SNP G C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr17:4449142G>C uc002fyb.3 - 14 1982 c.1920C>G c.(1918-1920)ATC>ATG p.I640M MYBBP1A_uc002fxz.3_Missense_Mutation_p.I640M|MYBBP1A_uc010vsa.1_5'Flank NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 640 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 AGGACCCACCGATGGTCTTGG 0.652 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr17:7578395G>A uc002gim.2 - 5 729 c.535C>T c.(535-537)CAT>TAT p.H179Y TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCTCATGGTGGGGGCAG 0.642 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYOCD 93649 broad.mit.edu 37 17 12656063 12656063 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr17:12656063G>A uc002gnn.2 + 10 1757 c.1458G>A c.(1456-1458)CCG>CCA p.P486P MYOCD_uc002gno.2_Silent_p.P486P|MYOCD_uc002gnp.1_Silent_p.P390P|MYOCD_uc002gnq.2_Silent_p.P205P NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 486 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCCTGCACCCGTCCCCAGTCC 0.632 LRRC30 339291 broad.mit.edu 37 18 7231554 7231554 + Nonsense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr18:7231554C>T uc010wzk.1 + 1 418 c.418C>T c.(418-420)CGA>TGA p.R140* NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 140 ovary(1)|liver(1) 2 GAGCTTGTGCCGAAAGCTGGA 0.572 MIB1 57534 broad.mit.edu 37 18 19395686 19395686 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr18:19395686G>A uc002ktq.2 + 11 1589 c.1589G>A c.(1588-1590)CGA>CAA p.R530Q MIB1_uc002ktp.2_Missense_Mutation_p.R169Q NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 530 ANK 4. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) AACAAGCGCCGACAGACACCA 0.438 SERPINB11 89778 broad.mit.edu 37 18 61377523 61377523 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr18:61377523G>A uc002ljk.3 + 2 158 c.96G>A c.(94-96)TCG>TCA p.S32S SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_5'UTR|SERPINB11_uc002ljj.3_5'UTR|SERPINB11_uc010dqe.2_5'UTR|SERPINB11_uc010dqf.2_Silent_p.S32S NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 32 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) TCTTTTCTTCGCTGAGTCTGC 0.433 SALL3 27164 broad.mit.edu 37 18 76753193 76753193 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr18:76753193C>T uc002lmt.2 + 2 1202 c.1202C>T c.(1201-1203)CCG>CTG p.P401L SALL3_uc010dra.2_Missense_Mutation_p.P8L NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AAGGGCAAGCCGCCCAATGTG 0.662 HCN2 610 broad.mit.edu 37 19 605149 605149 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:605149G>A uc002lpe.2 + 3 1198 c.1145G>A c.(1144-1146)GGC>GAC p.G382D NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 382 Helical; Name=Segment S5; (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGGGACGGCTGCCTGCAG 0.617 REEP6 92840 broad.mit.edu 37 19 1496383 1496383 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:1496383G>T uc002ltc.2 + 4 552 c.448G>T c.(448-450)GCC>TCC p.A150S NM_138393 NP_612402 Q96HR9 REEP6_HUMAN receptor accessory protein 6 150 integral to membrane 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCACCACGGGGCCGTAGACAG 0.657 ADAT3 113179 broad.mit.edu 37 19 1912807 1912807 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:1912807G>T uc002luh.2 + 2 941 c.713G>T c.(712-714)CGC>CTC p.R238L SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron NM_138422 NP_612431 Q96EY9 ADAT3_HUMAN tRNA-specific adenosine deaminase 3 238 tRNA processing hydrolase activity|zinc ion binding breast(1)|skin(1) 2 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCAGGGCCGCGGCACCTAC 0.741 ILF3 3609 broad.mit.edu 37 19 10794068 10794068 + Silent SNP A G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:10794068A>G uc002mpn.2 + 15 2018 c.1701A>G c.(1699-1701)CAA>CAG p.Q567Q ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpo.2_Silent_p.Q571Q|ILF3_uc002mpp.2_Silent_p.Q392Q|ILF3_uc002mpq.2_5'Flank NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 567 DRBM 2. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AGAAGTTCCAAGGTGCTGGTT 0.572 OR10H5 284433 broad.mit.edu 37 19 15905136 15905136 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:15905136C>T uc010xos.1 + 1 278 c.278C>T c.(277-279)GCC>GTC p.A93V NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CGCTCCATCGCCTTCCTGGCC 0.607 MYO9B 4650 broad.mit.edu 37 19 17312748 17312748 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:17312748G>A uc010eak.2 + 27 4729 c.4577G>A c.(4576-4578)CGT>CAT p.R1526H MYO9B_uc002nfi.2_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1526 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 AATGACCTCCGTTCCCAGAAG 0.572 PIK3R2 5296 broad.mit.edu 37 19 18280016 18280016 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:18280016C>T uc002nia.1 + 16 2611 c.2099C>T c.(2098-2100)TCG>TTG p.S700L PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 700 SH2 2. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CAGCACGCCTCGCTGGTGCAG 0.542 TSHZ3 57616 broad.mit.edu 37 19 31769684 31769685 + Frame_Shift_Ins INS - T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:31769684_31769685insT uc002nsy.3 - 2 1079_1080 c.1014_1015insA c.(1012-1017)GGTGGAfs p.G338fs NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 338_339 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTGGGGGTTCCACCTGTGGAAT 0.564 SLC7A10 56301 broad.mit.edu 37 19 33706697 33706697 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:33706697C>T uc002num.2 - 2 481 c.334G>A c.(334-336)GAG>AAG p.E112K SLC7A10_uc010xrq.1_Intron NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 112 E -> D (in a family with cystinuria). blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) CCGAAGATCTCTGTGACGTAG 0.657 FAM71E1 112703 broad.mit.edu 37 19 50979619 50979619 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:50979619G>A uc002psh.2 - 1 385 c.27C>T c.(25-27)CTC>CTT p.L9L FAM71E1_uc002psg.2_Silent_p.L9L|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank NM_138411 NP_612420 Q6IPT2 F71E1_HUMAN hypothetical protein LOC112703 9 breast(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) GCGGCTCCTGGAGATCAGGCC 0.682 ZNF776 284309 broad.mit.edu 37 19 58265771 58265771 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr19:58265771G>T uc002qpx.2 + 3 1496 c.1273G>T c.(1273-1275)GTT>TTT p.V425F ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V425F NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 425 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) ACACCAGAGAGTTCACACTGG 0.428 BCL11A 53335 broad.mit.edu 37 2 60688453 60688453 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr2:60688453C>T uc002sae.1 - 4 1822 c.1594G>A c.(1594-1596)GCG>ACG p.A532T BCL11A_uc002sab.2_Missense_Mutation_p.A532T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.A201T|BCL11A_uc010ypj.1_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 532 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCCACGACCGCGCCCCGCGAG 0.637 T IGH@ B-CLL MYO7B 4648 broad.mit.edu 37 2 128370138 128370138 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr2:128370138C>T uc002top.2 + 25 3333 c.3280C>T c.(3280-3282)CAC>TAC p.H1094Y NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1094 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGAGAAGGTGCACTTCATCGT 0.602 SCN9A 6335 broad.mit.edu 37 2 167056246 167056246 + Missense_Mutation SNP A T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr2:167056246A>T uc010fpl.2 - 27 5211 c.4870T>A c.(4870-4872)TTT>ATT p.F1624I uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1635 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ATCAAAGCAAAGAGCAGCGTG 0.507 HOXD4 3233 broad.mit.edu 37 2 177017342 177017342 + Missense_Mutation SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr2:177017342C>T uc002uks.2 + 2 689 c.440C>T c.(439-441)CCC>CTC p.P147L NM_014621 NP_055436 P09016 HXD4_HUMAN homeobox D4 147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GCAGTGAACCCCAACTACACC 0.527 COL3A1 1281 broad.mit.edu 37 2 189858803 189858803 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr2:189858803G>A uc002uqj.1 + 17 1306 c.1189G>A c.(1189-1191)GAA>AAA p.E397K COL3A1_uc010frw.1_RNA NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 397 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTAAAGGCGAAATGGTAAG 0.373 PRKAG3 53632 broad.mit.edu 37 2 219689035 219689035 + Silent SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr2:219689035C>T uc002vjb.1 - 12 1282 c.1263G>A c.(1261-1263)CTG>CTA p.L421L NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 421 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTCTGCCTCAGGGCTTCTC 0.597 SEL1L2 80343 broad.mit.edu 37 20 13830942 13830942 + Missense_Mutation SNP C A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr20:13830942C>A uc010gcf.2 - 19 1924 c.1842G>T c.(1840-1842)TTG>TTT p.L614F SEL1L2_uc002woq.3_Missense_Mutation_p.L475F|SEL1L2_uc010zrl.1_Missense_Mutation_p.L501F|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 614 Extracellular (Potential).|Sel1-like 11. integral to membrane binding ovary(2) 2 CCATGTCGTACAATCTTCTGG 0.448 ZBP1 81030 broad.mit.edu 37 20 56190589 56190589 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr20:56190589G>A uc002xyo.2 - 3 588 c.307C>T c.(307-309)CCT>TCT p.P103S ZBP1_uc010gjm.2_Missense_Mutation_p.P103S|ZBP1_uc002xyp.2_Missense_Mutation_p.P28S|ZBP1_uc010zzn.1_Missense_Mutation_p.P103S NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 103 DRADA 2. cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CTGAACTGAGGGCCAGGGGTC 0.592 C1QTNF6 114904 broad.mit.edu 37 22 37578306 37578306 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr22:37578306G>A uc003aqw.1 - 2 1207 c.702C>T c.(700-702)CGC>CGT p.R234R C1QTNF6_uc003aqx.1_Silent_p.R253R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 234 C1q. collagen 0 TGGCGTTCTCGCGCTGGCGCT 0.652 SH3BP1 23616 broad.mit.edu 37 22 38046222 38046222 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr22:38046222G>A uc003ati.2 + 15 1491 c.1380G>A c.(1378-1380)GCG>GCA p.A460A SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.R493H|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 460 Rho-GAP. signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) TCGTCGAGGCGCTGATCCAGA 0.577 SMC1B 27127 broad.mit.edu 37 22 45754668 45754668 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr22:45754668G>A uc003bgc.2 - 19 2922 c.2870C>T c.(2869-2871)ACT>ATT p.T957I SMC1B_uc003bgd.2_Missense_Mutation_p.T957I NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 957 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCTGCTTCAGTTCCCATCTG 0.214 GRM7 2917 broad.mit.edu 37 3 6903256 6903256 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr3:6903256G>T uc003bqm.2 + 1 455 c.181G>T c.(181-183)GGT>TGT p.G61C GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 61 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GCACGCCAAGGGTCCCAGCGG 0.672 SDHAP2 727956 broad.mit.edu 37 3 195410687 195410687 + Missense_Mutation SNP T A A rs6583274 by1000genomes TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr3:195410687T>A uc003fuw.2 + 13 1778 c.584T>A c.(583-585)GTG>GAG p.V195E SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 CCCTTTGAGGTGCACTGGAGG 0.567 CD38 952 broad.mit.edu 37 4 15835885 15835885 + Missense_Mutation SNP A G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr4:15835885A>G uc011bxc.1 + 4 652 c.545A>G c.(544-546)AAC>AGC p.N182S CD38_uc003gol.1_Missense_Mutation_p.N182S NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 182 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 GACTGCAGCAACAACCCTGTT 0.388 GALNT7 51809 broad.mit.edu 37 4 174219326 174219326 + Silent SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr4:174219326C>T uc003isz.3 + 6 1109 c.1026C>T c.(1024-1026)CCC>CCT p.P342P GALNT7_uc011ckb.1_Intron NM_017423 NP_059119 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 342 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1) 1 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) AAATTATACCCCAAGGGGGTG 0.473 C9 735 broad.mit.edu 37 5 39316092 39316092 + Missense_Mutation SNP C G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr5:39316092C>G uc003jlv.3 - 6 744 c.655G>C c.(655-657)GAA>CAA p.E219Q NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 219 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCAATTTGTTCTTCGTAATGT 0.303 HEATR7B2 133558 broad.mit.edu 37 5 41061824 41061824 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr5:41061824G>T uc003jmj.3 - 6 953 c.463C>A c.(463-465)CTT>ATT p.L155I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 155 binding ovary(6)|central_nervous_system(2) 8 AATTTCTCAAGGGCTGCATTT 0.398 POLR3G 10622 broad.mit.edu 37 5 89802453 89802453 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr5:89802453G>A uc003kjq.2 + 7 747 c.547G>A c.(547-549)GCA>ACA p.A183T POLR3G_uc011cuc.1_Missense_Mutation_p.A183T NM_006467 NP_006458 O15318 RPC7_HUMAN polymerase (RNA) III (DNA directed) polypeptide 183 Glu-rich. innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA-directed RNA polymerase activity 0 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22) cgatgatgccgcagaacagga 0.090 C5orf46 389336 broad.mit.edu 37 5 147286057 147286057 + Missense_Mutation SNP A C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr5:147286057A>C uc010jgp.2 - 1 45 c.8T>G c.(7-9)GTC>GGC p.V3G C5orf46_uc003lou.2_Missense_Mutation_p.V3G|C5orf46_uc003lov.3_Missense_Mutation_p.V3G NM_206966 NP_996849 Q6UWT4 CE046_HUMAN hypothetical protein LOC389336 precursor 3 extracellular region 0 AAGTACTGAGACAGCCATTCT 0.453 SH3TC2 79628 broad.mit.edu 37 5 148427540 148427540 + Missense_Mutation SNP G C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr5:148427540G>C uc003lpu.2 - 3 316 c.164C>G c.(163-165)TCC>TGC p.S55C SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 55 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACACAGAAGGAGAGTGTCAG 0.498 KIAA0319 9856 broad.mit.edu 37 6 24563628 24563628 + Silent SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr6:24563628C>T uc011djo.1 - 16 2787 c.2550G>A c.(2548-2550)TCG>TCA p.S850S KIAA0319_uc011djp.1_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 850 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 CCTTAATGTCCGAGTCCAGCA 0.587 PHACTR2 9749 broad.mit.edu 37 6 144033221 144033221 + Missense_Mutation SNP T C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr6:144033221T>C uc003qjq.3 + 2 212 c.82T>C c.(82-84)TTC>CTC p.F28L PHACTR2_uc010khh.2_Missense_Mutation_p.F28L|PHACTR2_uc010khi.2_Missense_Mutation_p.F39L|PHACTR2_uc003qjr.3_Missense_Mutation_p.F39L NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 28 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) AACACCTCCCTTCAAAAGAAA 0.433 SDK1 221935 broad.mit.edu 37 7 4213951 4213951 + Missense_Mutation SNP C T T rs140602039 TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:4213951C>T uc003smx.2 + 33 5037 c.4898C>T c.(4897-4899)ACG>ATG p.T1633M SDK1_uc010kso.2_Missense_Mutation_p.T909M|SDK1_uc003smy.2_Missense_Mutation_p.T120M NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1633 Fibronectin type-III 10. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GAGGCCAAGACGCTCAAAAAC 0.562 CPVL 54504 broad.mit.edu 37 7 29160576 29160576 + Silent SNP T C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:29160576T>C uc003szv.2 - 2 221 c.102A>G c.(100-102)CCA>CCG p.P34P CPVL_uc003szw.2_Silent_p.P34P|CPVL_uc003szx.2_Silent_p.P34P NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 34 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 CTCCCTTAGGTGGCATGGAAA 0.468 AEBP1 165 broad.mit.edu 37 7 44148536 44148536 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:44148536G>A uc003tkb.2 + 7 1284 c.979G>A c.(979-981)GAT>AAT p.D327N AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 327 cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCAGAAGCCCGATGCTGAGCG 0.652 ZNF680 340252 broad.mit.edu 37 7 64004099 64004099 + Missense_Mutation SNP A G G TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:64004099A>G uc003tta.2 - 3 412 c.239T>C c.(238-240)GTA>GCA p.V80A ZNF680_uc010kzr.2_Intron|ZNF680_uc003ttb.2_Missense_Mutation_p.V80A NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 80 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) GGGTTTGGCTACCATCTCCTG 0.428 ZAN 7455 broad.mit.edu 37 7 100377161 100377161 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:100377161G>A uc003uwj.2 + 36 6576 c.6411G>A c.(6409-6411)GCG>GCA p.A2137A ZAN_uc003uwk.2_Silent_p.A2137A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A224A NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2137 Extracellular (Potential).|VWFD 3. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCCGCAGGGCGCGGGAAAAGT 0.637 MUC17 140453 broad.mit.edu 37 7 100674926 100674926 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:100674926G>A uc003uxp.1 + 3 282 c.229G>A c.(229-231)GTG>ATG p.V77M MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 77 Extracellular (Potential). 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) TACAAATGTCGTGGAGCCAAG 0.448 RELN 5649 broad.mit.edu 37 7 103124180 103124180 + Silent SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:103124180G>A uc003vca.2 - 62 10261 c.10101C>T c.(10099-10101)AAC>AAT p.N3367N RELN_uc010liz.2_Silent_p.N3367N NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3367 BNR 16. 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) AGGTGATCCCGTTGTTGACGC 0.552 PUS7 54517 broad.mit.edu 37 7 105111170 105111170 + Missense_Mutation SNP A C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:105111170A>C uc003vcx.2 - 11 1582 c.1363T>G c.(1363-1365)TAT>GAT p.Y455D PUS7_uc010lji.2_Missense_Mutation_p.Y461D|PUS7_uc003vcy.2_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 455 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 TTCATTCCATATTTTGAAAGT 0.423 GIMAP7 168537 broad.mit.edu 37 7 150217096 150217096 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr7:150217096G>A uc003whk.2 + 2 164 c.34G>A c.(34-36)GTT>ATT p.V12I NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 12 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGAGGATCGTTCTGGTAGG 0.498 INTS9 55756 broad.mit.edu 37 8 28627526 28627526 + Silent SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr8:28627526G>T uc003xha.2 - 16 1979 c.1680C>A c.(1678-1680)GCC>GCA p.A560A INTS9_uc011lav.1_Silent_p.A536A|INTS9_uc011law.1_Silent_p.A539A|INTS9_uc011lax.1_Silent_p.A453A|INTS9_uc010lvc.2_RNA NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 560 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) TCGTGGGCTGGGCGGGCCGAG 0.602 OREG0018682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PRKDC 5591 broad.mit.edu 37 8 48772255 48772255 + Nonsense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr8:48772255G>A uc003xqi.2 - 47 6181 c.6124C>T c.(6124-6126)CAA>TAA p.Q2042* PRKDC_uc003xqj.2_Nonsense_Mutation_p.Q2042*|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2042 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAATCAAATTGACTCATTTCC 0.423 NHEJ RP1 6101 broad.mit.edu 37 8 55540932 55540932 + Missense_Mutation SNP A T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr8:55540932A>T uc003xsd.1 + 4 4638 c.4490A>T c.(4489-4491)GAG>GTG p.E1497V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1497 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.E1497E(1) skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATCCAAGAAGAGGTAGAGGCT 0.313 TRPA1 8989 broad.mit.edu 37 8 72973980 72973980 + Missense_Mutation SNP G A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr8:72973980G>A uc003xza.2 - 7 999 c.824C>T c.(823-825)GCC>GTC p.A275V NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 275 Cytoplasmic (Potential).|ANK 7. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAAATGAATGGCTGTGCACCT 0.393 MAPK15 225689 broad.mit.edu 37 8 144801307 144801307 + Missense_Mutation SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr8:144801307G>T uc003yzj.2 + 6 603 c.562G>T c.(562-564)GTG>TTG p.V188L NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 188 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGCACCGGAGGTGCTGCTCTC 0.687 NCBP1 4686 broad.mit.edu 37 9 100433448 100433448 + Silent SNP C T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chr9:100433448C>T uc004axq.2 + 23 2799 c.2340C>T c.(2338-2340)GCC>GCT p.A780A NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 780 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) ATATCTTGGCCGTGTTCCAGC 0.423 DMD 1756 broad.mit.edu 37 X 32429932 32429932 + Missense_Mutation SNP G C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chrX:32429932G>C uc004dda.1 - 30 4414 c.4170C>G c.(4168-4170)GAC>GAG p.D1390E DMD_uc004dcw.2_Missense_Mutation_p.D46E|DMD_uc004dcx.2_Missense_Mutation_p.D49E|DMD_uc004dcz.2_Missense_Mutation_p.D1267E|DMD_uc004dcy.1_Missense_Mutation_p.D1386E|DMD_uc004ddb.1_Missense_Mutation_p.D1382E|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1390 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCAACTGCTTGTCAATGAATG 0.473 USP11 8237 broad.mit.edu 37 X 47104414 47104414 + Splice_Site SNP G C C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chrX:47104414G>C uc004dhp.2 + 16 2216 c.2216_splice c.e16-1 p.A739_splice USP11_uc004dhq.2_Splice_Site_p.A465_splice NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CTCACCCCCAGCCCAGCCGTA 0.567 PCDH11X 27328 broad.mit.edu 37 X 91133526 91133526 + Missense_Mutation SNP T A A TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chrX:91133526T>A uc004efk.1 + 2 3132 c.2287T>A c.(2287-2289)TTC>ATC p.F763I PCDH11X_uc004efl.1_Missense_Mutation_p.F763I|PCDH11X_uc004efo.1_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F763I|PCDH11X_uc004efm.1_Missense_Mutation_p.F763I|PCDH11X_uc004efn.1_Missense_Mutation_p.F763I|PCDH11X_uc004efh.1_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 763 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGATTCTCTCTTCAGTGTTGT 0.433 GABRE 2564 broad.mit.edu 37 X 151124002 151124002 + Silent SNP G T T TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx cf3eb226-36c2-4498-a5c1-3f161de6fa3f 2f7cbc27-2715-4414-b1b0-601ba7627d40 g.chrX:151124002G>T uc004ffi.2 - 8 1029 c.975C>A c.(973-975)ACC>ACA p.T325T GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 325 gamma-aminobutyric acid signaling pathway 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) 2 Acute lymphoblastic leukemia(192;6.56e-05) TACGAGAAAAGGTGCCCAACG 0.493