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 SLC45A1 50651 broad.mit.edu 37 1 8395553 8395553 + Silent SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:8395553C>T uc001apb.2 + 5 1500 c.1500C>T c.(1498-1500)AGC>AGT p.S500S SLC45A1_uc001apc.2_Silent_p.S198S NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 500 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CGGGCTCCAGCGAGCGCGCGG 0.647 ST6GALNAC3 256435 broad.mit.edu 37 1 77094323 77094323 + Missense_Mutation SNP A T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:77094323A>T uc001dhh.2 + 5 913 c.750A>T c.(748-750)AAA>AAT p.K250N ST6GALNAC3_uc010orh.1_Missense_Mutation_p.K149N NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 250 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 GGTATAGAAAAGTCCCCTACC 0.328 HCN3 57657 broad.mit.edu 37 1 155254428 155254428 + Silent SNP C G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:155254428C>G uc001fjz.1 + 4 977 c.969C>G c.(967-969)CCC>CCG p.P323P RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Intron NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 323 Extracellular (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TAGGCATGCCCGACGTCTGGC 0.597 CD1B 910 broad.mit.edu 37 1 158300836 158300836 + Silent SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:158300836G>A uc001frx.2 - 2 186 c.78C>T c.(76-78)ACC>ACT p.T26T CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Silent_p.T26T NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 26 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) CATGAAAGGAGGTCGGCCCCT 0.458 VSIG8 391123 broad.mit.edu 37 1 159827989 159827989 + Nonsense_Mutation SNP G C C rs138280068 TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:159827989G>C uc001fuh.2 - 3 457 c.321C>G c.(319-321)TAC>TAG p.Y107* C1orf204_uc001fug.1_5'Flank NM_001013661 NP_001013683 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 107 Extracellular (Potential).|Ig-like V-type 1. integral to membrane central_nervous_system(1) 1 all_hematologic(112;0.0597) TGGAGGCATCGTACTGGCTTG 0.542 ITLN2 142683 broad.mit.edu 37 1 160920979 160920979 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:160920979C>T uc001fxd.2 - 4 353 c.295G>A c.(295-297)GAG>AAG p.E99K ITLN2_uc009wts.2_Missense_Mutation_p.E98K|ITLN2_uc010pju.1_Missense_Mutation_p.E16K NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN intelectin 2 precursor 99 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding ovary(1) 1 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ATGTCATTCTCGTGCACGCTG 0.582 LAMC2 3918 broad.mit.edu 37 1 183207550 183207550 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr1:183207550C>T uc001gqa.2 + 19 3177 c.2863C>T c.(2863-2865)CTC>TTC p.L955F LAMC2_uc001gpz.3_Missense_Mutation_p.L955F|LAMC2_uc010poa.1_Missense_Mutation_p.L655F NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 955 Potential.|Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 CCTTAAAAACCTCAGAGGTTA 0.413 ITGA8 8516 broad.mit.edu 37 10 15590502 15590502 + Silent SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr10:15590502G>A uc001ioc.1 - 27 2832 c.2832C>T c.(2830-2832)AGC>AGT p.S944S ITGA8_uc010qcb.1_Silent_p.S929S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 944 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TCAGGACTGCGCTTTCTCCTC 0.483 PLCE1 51196 broad.mit.edu 37 10 95791394 95791394 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr10:95791394G>A uc001kjk.2 + 2 1225 c.591G>A c.(589-591)ATG>ATA p.M197I PLCE1_uc010qnx.1_Missense_Mutation_p.M197I NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 197 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ACAGAAGAATGTCAGACACTT 0.408 KIAA1598 57698 broad.mit.edu 37 10 118689505 118689505 + Missense_Mutation SNP T A A rs145640256 TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr10:118689505T>A uc009xyw.2 - 10 1365 c.867A>T c.(865-867)GAA>GAT p.E289D KIAA1598_uc001lcz.3_Missense_Mutation_p.E289D|KIAA1598_uc010qso.1_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.3_Missense_Mutation_p.E259D NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 289 Potential. axon guidance axon 0 all cancers(201;0.00494) GCTCTTCTAATTCTTTGACCT 0.308 OR5D16 390144 broad.mit.edu 37 11 55606593 55606593 + Nonsense_Mutation SNP T A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr11:55606593T>A uc010rio.1 + 1 366 c.366T>A c.(364-366)TAT>TAA p.Y122* NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGATGGCCTATGACCACTTTG 0.433 LRRIQ1 84125 broad.mit.edu 37 12 85466877 85466877 + Splice_Site SNP G T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr12:85466877G>T uc001tac.2 + 11 2998 c.2887_splice c.e11+1 p.C963_splice LRRIQ1_uc001tab.1_Splice_Site_p.C963_splice NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TACTGGAATTGTAAGttgtgt 0.189 NOS1 4842 broad.mit.edu 37 12 117723943 117723943 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr12:117723943C>T uc001twm.1 - 6 1942 c.1256G>A c.(1255-1257)CGC>CAC p.R419H NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 419 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCCCACACAGCGCGAGGCATT 0.557 ACADS 35 broad.mit.edu 37 12 121164991 121164991 + Missense_Mutation SNP A G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr12:121164991A>G uc001tza.3 + 2 327 c.209A>G c.(208-210)CAG>CGG p.Q70R ACADS_uc010szl.1_Missense_Mutation_p.Q70R NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 70 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CCAGCGGCTCAGGTGAGAGTG 0.567 RB1 5925 broad.mit.edu 37 13 49039379 49039379 + Silent SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr13:49039379C>T uc001vcb.2 + 23 2530 c.2364C>T c.(2362-2364)AGC>AGT p.S788S NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 788 Interaction with LIMD1.|Domain C; mediates interaction with E4F1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCCTCGAAGCCCTTACAAGT 0.403 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) C13orf34 79866 broad.mit.edu 37 13 73321201 73321201 + Silent SNP A G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr13:73321201A>G uc001viv.1 + 10 1553 c.1434A>G c.(1432-1434)TCA>TCG p.S478S C13orf34_uc010thq.1_Silent_p.S253S|C13orf34_uc010aen.1_Silent_p.S553S|C13orf34_uc010thr.1_Silent_p.S408S|C13orf34_uc001viw.1_Silent_p.S427S NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 478 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) TGTGCATGTCACCTCTTGCTG 0.413 PYGO1 26108 broad.mit.edu 37 15 55838924 55838927 + Frame_Shift_Del DEL TGAC - - TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr15:55838924_55838927delTGAC uc010bfl.1 - 3 610_613 c.554_557delGTCA c.(553-558)AGTCAAfs p.S185fs PYGO1_uc002adf.1_Frame_Shift_Del_p.S185fs NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 185_186 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TGGAGGAATTTGACTGAAATTTTC 0.333 MAPK3 5595 broad.mit.edu 37 16 30128054 30128054 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr16:30128054G>A uc002dws.2 - 8 1175 c.1075C>T c.(1075-1077)CGG>TGG p.R359W uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.R245W|MAPK3_uc002dwv.3_Missense_Mutation_p.R315W|MAPK3_uc002dwt.2_3'UTR|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 359 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding p.R359W(1) 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TCCTTCAGCCGCTCCTTAGGT 0.642 SLC12A3 6559 broad.mit.edu 37 16 56913524 56913524 + Missense_Mutation SNP C T T rs139743444 byFrequency TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr16:56913524C>T uc010ccm.2 + 11 1435 c.1406C>T c.(1405-1407)GCC>GTC p.A469V SLC12A3_uc002ekd.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A468V NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 469 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTCTCCTCTGCCCTGGCCTGC 0.632 C17orf85 55421 broad.mit.edu 37 17 3721586 3721586 + Silent SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:3721586G>A uc010ckl.1 - 10 1304 c.1281C>T c.(1279-1281)GAC>GAT p.D427D C17orf85_uc002fwr.2_Silent_p.D137D|C17orf85_uc002fwq.2_Silent_p.D147D NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 427 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ATTCCACTTCGTCAGCATACA 0.328 TP53 7157 broad.mit.edu 37 17 7577551 7577551 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:7577551C>T uc002gim.2 - 7 924 c.730G>A c.(730-732)GGC>AGC p.G244S TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.2_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 244 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (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.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(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) TTCATGCCGCCCATGCAGGAA 0.582 111 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) TP53 7157 broad.mit.edu 37 17 7578464 7578464 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:7578464G>A uc002gim.2 - 5 660 c.466C>T c.(466-468)CGC>TGC p.R156C TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.2_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.1_Missense_Mutation_p.R117C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 156 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.R156fs*14(8)|p.0?(7)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.P152fs*14(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.R156fs*20(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) GCGCGGACGCGGGTGCCGGGC 0.612 111 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) TP53 7157 broad.mit.edu 37 17 7578466 7578466 + Missense_Mutation SNP G T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:7578466G>T uc002gim.2 - 5 658 c.464C>A c.(463-465)ACC>AAC p.T155N TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 155 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; 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.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(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) GCGGACGCGGGTGCCGGGCGG 0.612 111 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) ALOX15B 247 broad.mit.edu 37 17 7942479 7942479 + Silent SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:7942479C>T uc002gju.2 + 1 122 c.6C>T c.(4-6)GCC>GCT p.A2A ALOX15B_uc002gjv.2_Silent_p.A2A|ALOX15B_uc002gjw.2_Silent_p.A2A|ALOX15B_uc010vun.1_Silent_p.A2A|ALOX15B_uc010cnp.2_5'UTR NM_001141 NP_001132 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, second type 2 PLAT. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity ovary(1) 1 GCAGCATGGCCGAGTTCAGGG 0.652 Unknown 0 broad.mit.edu 37 17 21731124 21731124 + Silent SNP C A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:21731124C>A uc002gyy.3 + 2 551 c.426C>A c.(424-426)ACC>ACA p.T142T SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; AAGAGTCGACCCTGCATCTGG 0.567 BPTF 2186 broad.mit.edu 37 17 65924656 65924656 + Silent SNP A G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr17:65924656A>G uc002jgf.2 + 16 5998 c.5937A>G c.(5935-5937)CAA>CAG p.Q1979Q BPTF_uc002jge.2_Silent_p.Q2105Q NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2105 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TAACATTCCAACAAAACAAGA 0.393 TMEM146 257062 broad.mit.edu 37 19 5739352 5739352 + Missense_Mutation SNP G C C TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr19:5739352G>C uc002mda.2 + 7 536 c.475G>C c.(475-477)GTT>CTT p.V159L TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 159 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAGTAATTTGGTTTTTGCATA 0.214 MUC16 94025 broad.mit.edu 37 19 9049260 9049260 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr19:9049260G>A uc002mkp.2 - 5 32575 c.32371C>T c.(32371-32373)CGG>TGG p.R10791W NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10793 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCACCAACCGTGATACAGCA 0.483 CASP14 23581 broad.mit.edu 37 19 15164396 15164396 + Missense_Mutation SNP G T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr19:15164396G>T uc010dzv.1 + 3 439 c.131G>T c.(130-132)CGG>CTG p.R44L CASP14_uc002naf.2_Missense_Mutation_p.R44L NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 44 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 CACATGTTTCGGCAGCTGAGA 0.527 PPFIA3 8541 broad.mit.edu 37 19 49651354 49651354 + Silent SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr19:49651354C>T uc002pmr.2 + 24 3182 c.2850C>T c.(2848-2850)GGC>GGT p.G950G PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.G809G|PPFIA3_uc002pmt.2_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 950 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TGGCATATGGCGACATGAACC 0.617 KLF11 8462 broad.mit.edu 37 2 10188462 10188462 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr2:10188462C>T uc002raf.1 + 3 1160 c.998C>T c.(997-999)GCT>GTT p.A333V KLF11_uc010yjc.1_Missense_Mutation_p.A316V NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 333 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GTGGGACCTGCTGTGCCTCAG 0.622 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ACTG2 72 broad.mit.edu 37 2 74140711 74140711 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr2:74140711G>A uc002sjw.2 + 6 673 c.551G>A c.(550-552)CGT>CAT p.R184H ACTG2_uc010fey.2_Missense_Mutation_p.R184H|ACTG2_uc010yrn.1_Missense_Mutation_p.R141H NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 184 muscle contraction cytoskeleton|cytosol ATP binding 0 TTGGCTGGCCGTGACCTCACG 0.552 VIL1 7429 broad.mit.edu 37 2 219301877 219301877 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr2:219301877G>A uc002via.2 + 17 2067 c.2002G>A c.(2002-2004)GAG>AAG p.E668K VIL1_uc010zke.1_Missense_Mutation_p.E357K|VIL1_uc002vib.2_Missense_Mutation_p.E668K NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 668 Gelsolin-like 6.|Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACATGCCAACGAGGAGGAGAA 0.577 PDYN 5173 broad.mit.edu 37 20 1961151 1961151 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr20:1961151C>T uc010gaj.2 - 3 825 c.583G>A c.(583-585)GGG>AGG p.G195R uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G195R|PDYN_uc010zpt.1_Missense_Mutation_p.G40R NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 195 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 ATGCTATCCCCGTCCCCCTCC 0.597 RALGAPA2 57186 broad.mit.edu 37 20 20493649 20493649 + Missense_Mutation SNP G C C TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr20:20493649G>C uc002wrz.2 - 32 4507 c.4364C>G c.(4363-4365)TCT>TGT p.S1455C RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1159C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1455 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 ATCAGAGAGAGAGCCCACTGG 0.478 RALGAPB 57148 broad.mit.edu 37 20 37182634 37182634 + Missense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr20:37182634G>A uc002xiw.2 + 22 3544 c.3287G>A c.(3286-3288)TGC>TAC p.C1096Y RALGAPB_uc002xix.2_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.C874Y NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1096 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 GTTACGGATTGCAAGCCCCCG 0.478 LAMA5 3911 broad.mit.edu 37 20 60911477 60911477 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr20:60911477C>T uc002ycq.2 - 18 2309 c.2242G>A c.(2242-2244)GCT>ACT p.A748T NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 748 Laminin EGF-like 9. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCACGTGAGCCCGGCACATA 0.642 APOBEC3F 200316 broad.mit.edu 37 22 39448100 39448100 + Missense_Mutation SNP C A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr22:39448100C>A uc003aww.2 + 6 1038 c.745C>A c.(745-747)CAT>AAT p.H249N NM_145298 NP_660341 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 257 Zinc (By similarity). H->A: Decreases cytidine deaminase activity. base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding 0 Melanoma(58;0.04) GACCCATTGTCATGCAGAAAG 0.572 RPL14 9045 broad.mit.edu 37 3 40499407 40499407 + Silent SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr3:40499407C>T uc003ckg.2 + 2 81 c.30C>T c.(28-30)GGC>GGT p.G10G RPL14_uc003ckh.2_Silent_p.G10G|RPL14_uc003cki.2_5'UTR NM_003973 NP_003964 P50914 RL14_HUMAN ribosomal protein L14 10 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGGAGGTTGGCCGGGTGGCCT 0.443 CDCP1 64866 broad.mit.edu 37 3 45127459 45127459 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr3:45127459C>T uc003com.2 - 9 2317 c.2182G>A c.(2182-2184)GAC>AAC p.D728N NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 728 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GAGTCATTGTCCTTTCGCCCT 0.502 SLC15A2 6565 broad.mit.edu 37 3 121641692 121641692 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr3:121641692C>T uc003eep.2 + 9 1004 c.851C>T c.(850-852)GCG>GTG p.A284V SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 284 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CTAGACTGGGCGGCTGAGAAA 0.433 ILDR1 286676 broad.mit.edu 37 3 121712145 121712145 + Missense_Mutation SNP T G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr3:121712145T>G uc003ees.2 - 7 1557 c.1451A>C c.(1450-1452)GAC>GCC p.D484A ILDR1_uc003eeq.2_Missense_Mutation_p.D452A|ILDR1_uc003eer.2_Missense_Mutation_p.D440A|ILDR1_uc010hrg.2_Missense_Mutation_p.D395A NM_175924 NP_787120 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 484 Cytoplasmic (Potential). cytosol|integral to membrane|plasma membrane receptor activity skin(1) 1 GBM - Glioblastoma multiforme(114;0.156) CCTCTCCTTGTCCTCTTCAGA 0.677 PIK3CA 5290 broad.mit.edu 37 3 178938803 178938803 + Frame_Shift_Del DEL A - - TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr3:178938803delA uc003fjk.2 + 14 2202 c.2045delA c.(2044-2046)CAGfs p.Q682fs NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 682 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACAGTTAGCCAGAGGTTTGGC 0.348 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr4:8307709A>G uc003gla.2 + 9 1412 c.1208A>G c.(1207-1209)CAA>CGA p.Q403R NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GGCGGCATCCAAGATGGTGAC 0.647 N4BP2 55728 broad.mit.edu 37 4 40127847 40127847 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr4:40127847C>T uc003guy.3 + 12 4762 c.4424C>T c.(4423-4425)TCT>TTT p.S1475F N4BP2_uc010ifq.2_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.2_Missense_Mutation_p.S1395F NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1475 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TTAACAGCATCTGAAATGCTA 0.338 NAA11 84779 broad.mit.edu 37 4 80246554 80246554 + Nonsense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr4:80246554G>A uc003hlt.3 - 1 618 c.478C>T c.(478-480)CGA>TGA p.R160* NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 160 cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TCCATTTGTCGTCTCAGCTCA 0.517 ANKRD50 57182 broad.mit.edu 37 4 125591834 125591834 + Silent SNP A G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr4:125591834A>G uc003ifg.3 - 3 2864 c.2598T>C c.(2596-2598)CTT>CTC p.L866L ANKRD50_uc011cgo.1_Silent_p.L687L|ANKRD50_uc010inw.2_Silent_p.L866L NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 866 ANK 12. central_nervous_system(1) 1 CTTGTTCAATAAGTGCTTCAC 0.393 NEIL3 55247 broad.mit.edu 37 4 178274739 178274739 + Missense_Mutation SNP T G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr4:178274739T>G uc003iut.2 + 8 1434 c.1317T>G c.(1315-1317)GAT>GAG p.D439E NEIL3_uc010irs.2_3'UTR NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 439 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CAACAAACGATATAACTCAAC 0.373 BER_DNA_glycosylases SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + Missense_Mutation SNP C T T rs111700178 by1000genomes TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr5:1593264C>T uc010itg.1 - 2 273 c.196G>A c.(196-198)GCA>ACA p.A66T SDHAP3_uc011cme.1_RNA Homo sapiens cDNA clone IMAGE:40127561. 0 AGGGCACATGCCTGACCAAAG 0.552 ATG12 9140 broad.mit.edu 37 5 115177234 115177234 + Nonsense_Mutation SNP G A A TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr5:115177234G>A uc003krh.2 - 1 266 c.157C>T c.(157-159)CAG>TAG p.Q53* AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Nonsense_Mutation_p.Q53*|ATG12_uc003krj.2_RNA NM_004707 NP_004698 O94817 ATG12_HUMAN APG12 autophagy 12-like 6 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) AACACAGACTGCGGCTCCTCC 0.607 PCDHB10 56126 broad.mit.edu 37 5 140573541 140573541 + Silent SNP C T T rs17844565 byFrequency TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr5:140573541C>T uc003lix.2 + 1 1590 c.1416C>T c.(1414-1416)AGC>AGT p.S472S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 472 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACATCGGCAGCGTCAGCGCCA 0.662 ZUFSP 221302 broad.mit.edu 37 6 116987896 116987896 + Missense_Mutation SNP G T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr6:116987896G>T uc003pxf.1 - 2 706 c.460C>A c.(460-462)CCT>ACT p.P154T ZUFSP_uc010kef.1_Intron NM_145062 NP_659499 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 154 C2H2-type 2. intracellular zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) GGACATTCAGGAGGACTGTAT 0.378 LAMA2 3908 broad.mit.edu 37 6 129573419 129573419 + Missense_Mutation SNP T C C TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr6:129573419T>C uc003qbn.2 + 14 2180 c.2075T>C c.(2074-2076)TTT>TCT p.F692S LAMA2_uc003qbo.2_Missense_Mutation_p.F692S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 692 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACATACAGCTTTGGGATGGAT 0.453 PLXNA4 91584 broad.mit.edu 37 7 131982916 131982916 + Silent SNP G T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr7:131982916G>T uc003vra.3 - 4 1666 c.1437C>A c.(1435-1437)GGC>GGA p.G479G NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 479 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 GGAGGACTGGGCCGGGGTCCA 0.582 DLGAP2 9228 broad.mit.edu 37 8 1574988 1574988 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr8:1574988C>T uc003wpl.2 + 4 1382 c.1285C>T c.(1285-1287)CGC>TGC p.R429C DLGAP2_uc003wpm.2_Missense_Mutation_p.R429C NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 508 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCGAAATTCCGCTCCCGGAA 0.617 MPDZ 8777 broad.mit.edu 37 9 13162794 13162794 + Silent SNP T C C TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chr9:13162794T>C uc010mia.1 - 22 3312 c.3255A>G c.(3253-3255)AAA>AAG p.K1085K MPDZ_uc010mhx.2_5'UTR|MPDZ_uc011lmm.1_5'UTR|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Silent_p.K1085K|MPDZ_uc010mhz.2_Silent_p.K1085K|MPDZ_uc011lmn.1_Silent_p.K1085K|MPDZ_uc003zlb.3_Silent_p.K1085K NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1085 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CATAAGTAATTCTGGAACAAA 0.348 DCAF12L1 139170 broad.mit.edu 37 X 125685588 125685588 + Missense_Mutation SNP C T T TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chrX:125685588C>T uc004eul.2 - 1 1255 c.1004G>A c.(1003-1005)CGC>CAC p.R335H NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 335 skin(3)|ovary(1) 4 CTGGTCCTGGCGCAGATCCAG 0.597 VAMP7 6845 broad.mit.edu 37 X 155169439 155169439 + Missense_Mutation SNP C G G TCGA-76-6193-01A-11D-1696-08 TCGA-76-6193-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 6a751d65-5fcf-4c03-8253-8f1b8faccab2 2c173733-933e-408a-b54b-ded5dffc589e g.chrX:155169439C>G uc004fnr.2 + 7 750 c.576C>G c.(574-576)ATC>ATG p.I192M VAMP7_uc004fnt.2_Missense_Mutation_p.I151M|VAMP7_uc011naa.1_Missense_Mutation_p.I153M|VAMP7_uc011nab.1_Missense_Mutation_p.I91M|VAMP7_uc004fns.2_Missense_Mutation_p.H170D|VAMP7_uc011nac.1_Missense_Mutation_p.I125M NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 192 Helical; Anchor for type IV membrane protein; (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCACTATTATCATCATCATCG 0.333