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 FLG 2312 broad.mit.edu 37 1 152280065 152280065 + Missense_Mutation SNP T C C TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr1:152280065T>C uc001ezu.1 - 3 7333 c.7297A>G c.(7297-7299)ACC>GCC p.T2433A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2433 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTGCTGGTCCCGGTCCGT 0.597 Ichthyosis HMCN1 83872 broad.mit.edu 37 1 186057366 186057366 + Missense_Mutation SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr1:186057366C>T uc001grq.1 + 62 9764 c.9535C>T c.(9535-9537)CCA>TCA p.P3179S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3179 Ig-like C2-type 30. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CACTGGGATCCCACCTCCCAC 0.433 PTEN 5728 broad.mit.edu 37 10 89711900 89711900 + Missense_Mutation SNP G A A rs121913294 TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr10:89711900G>A uc001kfb.2 + 7 1549 c.518G>A c.(517-519)CGC>CAC p.R173H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 173 Phosphatase tensin-type. R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4). 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.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(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) AGTCAGAGGCGCTATGTGTAT 0.348 R173H(RL952_ENDOMETRIUM) 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) POLL 27343 broad.mit.edu 37 10 103342623 103342623 + Missense_Mutation SNP C T T rs146112511 TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr10:103342623C>T uc001ktg.1 - 6 1857 c.1091G>A c.(1090-1092)CGC>CAC p.R364H DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001kti.1_Missense_Mutation_p.R364H|POLL_uc001ktj.1_Missense_Mutation_p.R364H|POLL_uc001ktf.2_Missense_Mutation_p.R272H|POLL_uc001ktk.1_Missense_Mutation_p.R103H|POLL_uc010qqa.1_Missense_Mutation_p.R103H|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.R364H|POLL_uc001ktl.2_Missense_Mutation_p.R276H|POLL_uc010qqc.1_Missense_Mutation_p.R56H NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 364 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGCCTGGCTGCGGATGTCTTC 0.552 DNA_polymerases_(catalytic_subunits) C10orf96 374355 broad.mit.edu 37 10 118084588 118084588 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr10:118084588G>A uc001lck.2 + 2 316 c.65G>A c.(64-66)CGT>CAT p.R22H NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 22 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) GAGAGTCGCCGTTTGATGCGA 0.557 LPXN 9404 broad.mit.edu 37 11 58318640 58318640 + Silent SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr11:58318640C>T uc001nmw.2 - 5 529 c.384G>A c.(382-384)CTG>CTA p.L128L LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Silent_p.L133L|LPXN_uc010rkk.1_Silent_p.L108L|LPXN_uc010rkl.1_RNA NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 128 cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCATTGAGTCCAGGGAGGCCT 0.557 AHNAK 79026 broad.mit.edu 37 11 62296010 62296010 + Missense_Mutation SNP A G G TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr11:62296010A>G uc001ntl.2 - 5 6179 c.5879T>C c.(5878-5880)GTG>GCG p.V1960A AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1960 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AACATCAGGCACCTCCACACC 0.507 C11orf65 160140 broad.mit.edu 37 11 108302505 108302505 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr11:108302505G>A uc001pkh.2 - 3 212 c.142C>T c.(142-144)CGT>TGT p.R48C C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA NM_152587 NP_689800 Q8NCR3 CK065_HUMAN hypothetical protein LOC160140 48 ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ACTATCTGACGTGGTTCTCCT 0.299 OR8D1 283159 broad.mit.edu 37 11 124180280 124180280 + Missense_Mutation SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr11:124180280C>T uc010sag.1 - 1 383 c.383G>A c.(382-384)AGC>AAC p.S128N NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AAGCAGTGGGCTACAGATGGC 0.498 ZBTB39 9880 broad.mit.edu 37 12 57396726 57396726 + Missense_Mutation SNP A G G TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr12:57396726A>G uc001sml.1 - 2 2062 c.1976T>C c.(1975-1977)CTC>CCC p.L659P RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GCGGTACATGAGGGCCCCCGA 0.557 CUX2 23316 broad.mit.edu 37 12 111748209 111748209 + Silent SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr12:111748209C>T uc001tsa.1 + 15 1776 c.1623C>T c.(1621-1623)GGC>GGT p.G541G NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 541 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GTGGTGGGGGCGGAGCGGCGG 0.721 RIMBP2 23504 broad.mit.edu 37 12 130898833 130898833 + Missense_Mutation SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr12:130898833C>T uc001uil.2 - 14 2653 c.2489G>A c.(2488-2490)CGC>CAC p.R830H NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 830 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGGAGAAAGGCGGTCTCGCCC 0.572 NID2 22795 broad.mit.edu 37 14 52507433 52507433 + Silent SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr14:52507433G>A uc001wzo.2 - 8 2196 c.1962C>T c.(1960-1962)TAC>TAT p.Y654Y NID2_uc010tqs.1_Silent_p.Y654Y|NID2_uc010tqt.1_Silent_p.Y654Y|NID2_uc001wzp.2_Silent_p.Y654Y NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 654 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TTGCTGAGACGTAAGGCACCT 0.443 RBM25 58517 broad.mit.edu 37 14 73578303 73578303 + Silent SNP T C C TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr14:73578303T>C uc001xno.2 + 16 2293 c.2085T>C c.(2083-2085)TTT>TTC p.F695F RBM25_uc010ttu.1_Silent_p.F695F|RBM25_uc001xnp.2_Silent_p.F490F NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 695 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) ATAGTGTCTTTAACAAATTTG 0.403 ADAM10 102 broad.mit.edu 37 15 58904096 58904096 + Missense_Mutation SNP A C C TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr15:58904096A>C uc002afd.1 - 12 2050 c.1606T>G c.(1606-1608)TGT>GGT p.C536G ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.C235G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C73G NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 536 Extracellular (Potential).|Disintegrin. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) AAGCCATTACATATTCCTTCC 0.448 WASH3P 374666 broad.mit.edu 37 15 102515257 102515257 + Missense_Mutation SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr15:102515257C>T uc002cdi.2 + 9 1901 c.481C>T c.(481-483)CGG>TGG p.R161W WASH3P_uc002cdl.2_Missense_Mutation_p.R161W|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.R161W|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 CTCCGGTGGCCGGGCCACTCT 0.647 SNX29 92017 broad.mit.edu 37 16 12220512 12220512 + Silent SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr16:12220512G>A uc002dby.3 + 5 326 c.270G>A c.(268-270)GTG>GTA p.V90V SNX29_uc010uyx.1_Silent_p.V117V NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 90 Potential. cell communication phosphatidylinositol binding ovary(1) 1 AGGCCACTGTGGCCATGATGA 0.488 GTF3C1 2975 broad.mit.edu 37 16 27480738 27480738 + Missense_Mutation SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr16:27480738C>T uc002dov.1 - 32 4988 c.4948G>A c.(4948-4950)GGC>AGC p.G1650S GTF3C1_uc002dou.2_Missense_Mutation_p.G1650S NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1650 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GAGTAGTAGCCCCTCATCAGC 0.602 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr17:39305619G>T uc002hwb.2 - 1 436 c.401C>A c.(400-402)TCT>TAT p.S134Y NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 24.|27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.313 CTAGE1 64693 broad.mit.edu 37 18 19997766 19997766 + Silent SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr18:19997766G>A uc002ktv.1 - 1 113 c.9C>T c.(7-9)CCC>CCT p.P3P NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 3 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GATGAGAATCGGGTCTCATAC 0.507 SERPINB4 6318 broad.mit.edu 37 18 61325755 61325755 + Missense_Mutation SNP T A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr18:61325755T>A uc002ljg.2 - 4 487 c.461A>T c.(460-462)CAA>CTA p.Q154L SERPINB3_uc002lji.2_Missense_Mutation_p.Q154L|SERPINB3_uc010dqa.2_Missense_Mutation_p.Q154L|SERPINB3_uc010dqb.2_3'UTR P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 154 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 ACCATTCGTTTGACTTTCCAC 0.448 OR7A5 26659 broad.mit.edu 37 19 14938368 14938368 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr19:14938368G>A uc002mzw.2 - 1 909 c.686C>T c.(685-687)TCA>TTA p.S229L OR7A5_uc010xoa.1_Missense_Mutation_p.S229L NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 CTGAGCTGATGAGATTGCATG 0.448 HIPK4 147746 broad.mit.edu 37 19 40890043 40890043 + Missense_Mutation SNP T C C TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr19:40890043T>C uc002onp.2 - 2 754 c.469A>G c.(469-471)ATT>GTT p.I157V NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 157 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CCGAAGTCAATCACCTGTCGG 0.627 SPTBN4 57731 broad.mit.edu 37 19 41060491 41060491 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr19:41060491G>A uc002ony.2 + 24 5109 c.5023G>A c.(5023-5025)GAA>AAA p.E1675K SPTBN4_uc002onx.2_Missense_Mutation_p.E1675K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1675K|SPTBN4_uc010egx.2_Missense_Mutation_p.E418K|SPTBN4_uc010egy.1_Missense_Mutation_p.E351K|SPTBN4_uc002ooa.2_Missense_Mutation_p.E351K NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1675 Spectrin 14. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAACTACGAGGAAAGCATCGC 0.662 KLK13 26085 broad.mit.edu 37 19 51563780 51563780 + Missense_Mutation SNP T C C TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr19:51563780T>C uc002pvn.2 - 2 192 c.149A>G c.(148-150)CAG>CGG p.Q50R KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.Q50R|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.Q50R NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 50 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) TAGGGCAGCCTGCCAGGGCTG 0.602 NLRP4 147945 broad.mit.edu 37 19 56372800 56372800 + Silent SNP C A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr19:56372800C>A uc002qmd.3 + 4 2327 c.1905C>A c.(1903-1905)ACC>ACA p.T635T NLRP4_uc002qmf.2_Silent_p.T560T|NLRP4_uc010etf.2_Silent_p.T466T NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 635 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGTGCTCACCACCAGCGGGC 0.592 LRPPRC 10128 broad.mit.edu 37 2 44203309 44203309 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr2:44203309G>A uc002rtr.2 - 6 768 c.710C>T c.(709-711)GCC>GTC p.A237V LRPPRC_uc010yob.1_Missense_Mutation_p.A137V|LRPPRC_uc010faw.1_Missense_Mutation_p.A211V NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 237 PPR 4. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTCACAAGGGCACTGAATAC 0.398 TTN 7273 broad.mit.edu 37 2 179633437 179633437 + Silent SNP A G G TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr2:179633437A>G uc010zfg.1 - 38 9350 c.9126T>C c.(9124-9126)GCT>GCC p.A3042A TTN_uc010zfh.1_Silent_p.A2996A|TTN_uc010zfi.1_Silent_p.A2996A|TTN_uc010zfj.1_Silent_p.A2996A|TTN_uc002unb.2_Silent_p.A3042A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3042 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGCTTTTCCAGCCACAAAGG 0.388 MUC4 4585 broad.mit.edu 37 3 195516052 195516052 + Missense_Mutation SNP G A A rs142259629 by1000genomes TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr3:195516052G>A uc011bto.1 - 2 2859 c.2399C>T c.(2398-2400)GCG>GTG p.A800V MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A682V NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 805 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGCTGTGCCCGCTGAGGTGGT 0.587 LIN54 132660 broad.mit.edu 37 4 83905798 83905798 + Missense_Mutation SNP G C C TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr4:83905798G>C uc003hnx.3 - 2 578 c.200C>G c.(199-201)ACA>AGA p.T67R LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T67R|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 67 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) ACTGTACACTGTGATTGGTTC 0.428 CLCN3 1182 broad.mit.edu 37 4 170610366 170610366 + Missense_Mutation SNP C G G TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr4:170610366C>G uc003isi.2 + 5 1100 c.591C>G c.(589-591)ATC>ATG p.I197M CLCN3_uc003ish.2_Missense_Mutation_p.I197M|CLCN3_uc011cjz.1_Missense_Mutation_p.I180M|CLCN3_uc011cka.1_Missense_Mutation_p.I197M|CLCN3_uc003isj.1_Missense_Mutation_p.I170M NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 197 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) CAGAATTAATCATAGGTCAAG 0.353 LRRC16A 55604 broad.mit.edu 37 6 25606465 25606465 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr6:25606465G>A uc011djw.1 + 35 4187 c.3811G>A c.(3811-3813)GTC>ATC p.V1271I LRRC16A_uc010jpx.2_Missense_Mutation_p.V1226I|LRRC16A_uc010jpy.2_Missense_Mutation_p.V1265I NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1271 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 AGCACGGCCCGTCATCCCGCA 0.607 CHN2 1124 broad.mit.edu 37 7 29407575 29407575 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr7:29407575G>A uc003szz.2 + 3 553 c.116G>A c.(115-117)CGT>CAT p.R39H CHN2_uc011jzs.1_Missense_Mutation_p.R114H|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Intron|CHN2_uc011jzt.1_Missense_Mutation_p.R52H|CHN2_uc010kvd.2_Missense_Mutation_p.R39H|CHN2_uc011jzu.1_Missense_Mutation_p.R24H NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 39 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 GAGGCACCTCGTCCCAAGAGA 0.413 SAMD9 54809 broad.mit.edu 37 7 92731863 92731863 + Missense_Mutation SNP G A A TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chr7:92731863G>A uc003umf.2 - 3 3804 c.3548C>T c.(3547-3549)CCG>CTG p.P1183L SAMD9_uc003umg.2_Missense_Mutation_p.P1183L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1183 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTGACTTCGGATACAATCT 0.378 BEND2 139105 broad.mit.edu 37 X 18195711 18195711 + Silent SNP C T T rs150572716 TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chrX:18195711C>T uc004cyj.3 - 10 1762 c.1608G>A c.(1606-1608)CCG>CCA p.P536P BEND2_uc010nfb.2_Silent_p.P445P NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 536 BEN 1. p.P536P(1) ovary(3)|kidney(1)|central_nervous_system(1) 5 CCATTTTGTTCGGGTCGAGGG 0.388 YY2 404281 broad.mit.edu 37 X 21875351 21875351 + Missense_Mutation SNP C T T TCGA-28-2510-01A-01D-1696-08 TCGA-28-2510-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5f2dc303-9859-4b63-8aab-c387da4b2cc1 1ac0c79f-5de9-404e-88fd-a3533e56ea51 g.chrX:21875351C>T uc011mjp.1 + 1 749 c.749C>T c.(748-750)CCT>CTT p.P250L MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.P468L|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 250 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 AAAGGAGAACCTCCCAAAACA 0.502