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 NKAIN1 79570 broad.mit.edu 37 1 31658176 31658176 + Splice_Site SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr1:31658176T>C uc010ogd.1 - 3 199 c.193_splice c.e3-1 p.Y65_splice NKAIN1_uc001bsn.2_Splice_Site_p.Y21_splice|NKAIN1_uc010ogc.1_Intron NM_024522 NP_078798 Q4KMZ8 NKAI1_HUMAN Na+/K+ transporting ATPase interacting 1 integral to membrane|plasma membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148) GGCTGCATACTGGGGAAAGCA 0.587 KCNA2 3737 broad.mit.edu 37 1 111146955 111146955 + Missense_Mutation SNP C A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr1:111146955C>A uc001dzu.2 - 2 946 c.450G>T c.(448-450)TGG>TGT p.W150C KCNA2_uc009wfv.1_Missense_Mutation_p.W150C|KCNA2_uc009wfw.2_Missense_Mutation_p.W150C NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 150 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CAAAGAGAAGCCACACTTGTC 0.473 RYR2 6262 broad.mit.edu 37 1 237604722 237604722 + Missense_Mutation SNP T A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr1:237604722T>A uc001hyl.1 + 13 1229 c.1109T>A c.(1108-1110)CTA>CAA p.L370Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 370 Cytoplasmic (By similarity).|MIR 5. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACACAGGCCTATGGCTTACT 0.373 STAM 8027 broad.mit.edu 37 10 17735226 17735226 + Silent SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr10:17735226A>G uc001ipj.1 + 6 666 c.450A>G c.(448-450)GCA>GCG p.A150A STAM_uc010qcf.1_Silent_p.A39A|STAM_uc009xjw.1_5'Flank NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 150 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 GTTAGGCTGCAGAACAAGCAA 0.408 NEBL 10529 broad.mit.edu 37 10 21461321 21461321 + Missense_Mutation SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr10:21461321T>C uc001iqk.2 - 2 509 c.155A>G c.(154-156)TAT>TGT p.Y52C NM_213569 NP_998734 O76041 NEBL_HUMAN nebulette non-muscle isoform Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CGCATTACAATAGGGCTTCTT 0.438 SVIL 6840 broad.mit.edu 37 10 29839574 29839574 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr10:29839574C>T uc001iut.1 - 6 1532 c.779G>A c.(778-780)CGG>CAG p.R260Q SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 260 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GGAGGGGCTCCGGGAGGCTGC 0.612 KIAA1462 57608 broad.mit.edu 37 10 30315760 30315760 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr10:30315760G>A uc001iux.2 - 2 3376 c.3317C>T c.(3316-3318)GCG>GTG p.A1106V KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A968V|KIAA1462_uc009xle.1_Missense_Mutation_p.A1106V NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1106 ovary(4) 4 GTTCTGTCCCGCTCTCCGGAT 0.637 PTEN 5728 broad.mit.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C T T rs121909219 TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr10:89717672C>T uc001kfb.2 + 8 1728 c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGGACCCACACGACGGGAAGA 0.423 R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_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) ANO3 63982 broad.mit.edu 37 11 26569054 26569054 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr11:26569054G>A uc001mqt.3 + 12 1391 c.1246G>A c.(1246-1248)GTT>ATT p.V416I ANO3_uc010rdr.1_Missense_Mutation_p.V400I|ANO3_uc010rds.1_Missense_Mutation_p.V255I|ANO3_uc010rdt.1_Missense_Mutation_p.V270I NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 416 Helical; (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGGTTTGTGCGTTTTCTTCTA 0.373 OR5D13 390142 broad.mit.edu 37 11 55541619 55541619 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr11:55541619C>T uc010ril.1 + 1 706 c.706C>T c.(706-708)CGC>TGC p.R236C NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TGCAAGTGGGCGCCAGAAAAC 0.408 OR10V1 390201 broad.mit.edu 37 11 59481032 59481032 + Missense_Mutation SNP G A A rs144835634 TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr11:59481032G>A uc001nof.1 - 1 287 c.287C>T c.(286-288)ACG>ATG p.T96M NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCCACATCCCGTGATGGAAAC 0.473 CAPN1 823 broad.mit.edu 37 11 64953733 64953733 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr11:64953733G>A uc009yqd.1 + 6 794 c.683G>A c.(682-684)CGC>CAC p.R228H CAPN1_uc001odf.1_Missense_Mutation_p.R228H|CAPN1_uc001odg.1_Missense_Mutation_p.R228H|CAPN1_uc010roa.1_5'UTR NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 228 Calpain catalytic. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) TACGAGTTGCGCAAGGCTCCC 0.637 TMEM123 114908 broad.mit.edu 37 11 102272678 102272678 + Silent SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr11:102272678A>G uc001pha.2 - 3 838 c.417T>C c.(415-417)AGT>AGC p.S139S TMEM123_uc009yxc.2_Silent_p.S120S NM_052932 NP_443164 Q8N131 PORIM_HUMAN transmembrane protein 123 precursor 139 Thr-rich.|Extracellular (Potential). oncosis external side of plasma membrane|integral to membrane receptor activity breast(2) 2 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) ATGTCACTGAACTATTGTGGG 0.363 RAPGEF3 10411 broad.mit.edu 37 12 48143197 48143197 + Missense_Mutation SNP C A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr12:48143197C>A uc009zkp.2 - 9 1331 c.891G>T c.(889-891)AAG>AAT p.K297N RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.K297N|RAPGEF3_uc001rpz.3_Missense_Mutation_p.K339N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 297 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TGAAGTCCTGCTTGTCCACAC 0.562 SRRM4 84530 broad.mit.edu 37 12 119588965 119588965 + Missense_Mutation SNP C G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr12:119588965C>G uc001txa.1 + 10 1512 c.1220C>G c.(1219-1221)TCC>TGC p.S407C NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 407 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 TCGTCCCGATCCCCAAATCCC 0.572 RIMBP2 23504 broad.mit.edu 37 12 130898833 130898833 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 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 FGF14 2259 broad.mit.edu 37 13 102375254 102375254 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr13:102375254G>A uc001vpe.2 - 5 671 c.671C>T c.(670-672)ACG>ATG p.T224M FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank NM_004115 NP_004106 Q92915 FGF14_HUMAN fibroblast growth factor 14 isoform 1A 224 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding ovary(2)|lung(1)|large_intestine(1) 4 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTACTTGGCGTCACCCCAGG 0.473 C14orf39 317761 broad.mit.edu 37 14 60951623 60951623 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr14:60951623C>T uc001xez.3 - 3 192 c.82G>A c.(82-84)GAA>AAA p.E28K C14orf39_uc010apo.2_5'UTR NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 28 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ATCATCTCTTCTTTAGTACTT 0.264 DLK1 8788 broad.mit.edu 37 14 101201218 101201218 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr14:101201218C>T uc001yhs.3 + 5 1290 c.1137C>T c.(1135-1137)GGC>GGT p.G379G DLK1_uc001yhu.3_Silent_p.G306G NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 379 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) AGGAGGCCGGCGACGAGGAGA 0.552 TDRD9 122402 broad.mit.edu 37 14 104508512 104508512 + Missense_Mutation SNP A C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr14:104508512A>C uc001yom.3 + 34 3992 c.3962A>C c.(3961-3963)CAG>CCG p.Q1321P TDRD9_uc001yon.3_Missense_Mutation_p.Q868P NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 1321 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATTGCCCGTCAGAAGCTTTTA 0.478 TGM5 9333 broad.mit.edu 37 15 43552356 43552356 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr15:43552356C>T uc001zrd.1 - 3 338 c.330G>A c.(328-330)GCG>GCA p.A110A TGM5_uc001zre.1_Intron NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 110 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GACCCACGGCCGCCGTGGGAG 0.617 DET1 55070 broad.mit.edu 37 15 89056199 89056199 + Nonsense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr15:89056199G>A uc002bmr.2 - 5 1788 c.1636C>T c.(1636-1638)CGA>TGA p.R546* DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Nonsense_Mutation_p.R557* NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 546 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) CAGCAGTGTCGCATATGGAAG 0.498 DET1 55070 broad.mit.edu 37 15 89073948 89073948 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr15:89073948C>T uc002bmr.2 - 2 1141 c.989G>A c.(988-990)CGA>CAA p.R330Q DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R341Q NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 330 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TTTCCACATTCGCAGCTGCCG 0.493 Unknown 0 broad.mit.edu 37 15 102292767 102292767 + Nonsense_Mutation SNP C T T rs113047734 by1000genomes TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr15:102292767C>T uc010usj.1 + 4 414 c.355C>T c.(355-357)CGA>TGA p.R119* uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; CACAGCGGCGCGACGAGATGC 0.597 Unknown 0 broad.mit.edu 37 15 102292785 102292785 + Missense_Mutation SNP C G G rs143389223 TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr15:102292785C>G uc010usj.1 + 4 432 c.373C>G c.(373-375)CAG>GAG p.Q125E uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; TGCTGCTTCTCAGAGCTGCTG 0.602 ITGAX 3687 broad.mit.edu 37 16 31368588 31368588 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr16:31368588C>T uc002ebu.1 + 5 400 c.333C>T c.(331-333)ACC>ACT p.T111T ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebt.2_Silent_p.T111T NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 111 FG-GAP 2.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCGGCCCCACCGTGCACCACG 0.687 CCDC135 84229 broad.mit.edu 37 16 57760043 57760043 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr16:57760043G>A uc002emi.2 + 13 1911 c.1822G>A c.(1822-1824)GTG>ATG p.V608M CCDC135_uc002emj.2_Missense_Mutation_p.V608M|CCDC135_uc002emk.2_Missense_Mutation_p.V543M NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 608 cytoplasm central_nervous_system(1) 1 GGCAGAGCGCGTGTTTCTGGT 0.627 DLG4 1742 broad.mit.edu 37 17 7121951 7121951 + Missense_Mutation SNP C G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr17:7121951C>G uc002get.3 - 2 1228 c.27G>C c.(25-27)AGG>AGC p.R9S DLG4_uc010cly.2_5'Flank|DLG4_uc010vto.1_Missense_Mutation_p.R9S|DLG4_uc002geu.2_5'Flank|ACADVL_uc010vtp.1_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.2_5'Flank|ACADVL_uc002gew.2_5'Flank|ACADVL_uc002gex.2_5'Flank NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 Error:Variant_position_missing_in_P78352_after_alignment axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 AGAGGGCTGACCTGGGAGCTA 0.592 C17orf102 400591 broad.mit.edu 37 17 32905952 32905952 + Missense_Mutation SNP G T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr17:32905952G>T uc002hie.1 - 1 437 c.348C>A c.(346-348)AAC>AAA p.N116K TMEM132E_uc002hif.2_5'Flank NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN hypothetical protein LOC400591 116 ovary(1) 1 GAATAAATAGGTTTCCCACAG 0.607 GGNBP2 79893 broad.mit.edu 37 17 34943625 34943625 + Frame_Shift_Del DEL T - - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr17:34943625delT uc002hnb.2 + 13 2089 c.1840delT c.(1840-1842)TTGfs p.L614fs NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 614 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TACAGAAACGTTGTTTGGTCC 0.463 C17orf71 55181 broad.mit.edu 37 17 57292254 57292254 + Missense_Mutation SNP T G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr17:57292254T>G uc002ixi.2 + 4 2909 c.2867T>G c.(2866-2868)TTT>TGT p.F956C NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 956 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) GTTTTGAGATTTCCTTATGCA 0.473 CTAGE1 64693 broad.mit.edu 37 18 19995570 19995570 + Missense_Mutation SNP T A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr18:19995570T>A uc002ktv.1 - 1 2309 c.2205A>T c.(2203-2205)AGA>AGT p.R735S NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 735 Pro-rich. 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) AAAATGCAGGTCTTGGGGGAC 0.483 TCEB3B 51224 broad.mit.edu 37 18 44560403 44560403 + Silent SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr18:44560403T>C uc002lcr.1 - 1 1586 c.1233A>G c.(1231-1233)CAA>CAG p.Q411Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 411 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 TTGCTTTCCTTTGTTTATCTC 0.502 MALT1 10892 broad.mit.edu 37 18 56400716 56400716 + Frame_Shift_Del DEL A - - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr18:56400716delA uc002lhm.1 + 11 1568 c.1310delA c.(1309-1311)GAAfs p.E437fs MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 437 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 TATAGGTCTGAAAATTGTCTG 0.348 T BIRC3 MALT TNFRSF11A 8792 broad.mit.edu 37 18 60025550 60025550 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr18:60025550C>T uc002lin.2 + 5 535 c.497C>T c.(496-498)ACG>ATG p.T166M TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T166M NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 166 TNFR-Cys 4.|Extracellular (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) TTTTCCTCCACGGACAAATGC 0.448 Paget_Disease_of_Bone TJP3 27134 broad.mit.edu 37 19 3730053 3730053 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:3730053C>T uc010xhv.1 + 3 243 c.243C>T c.(241-243)AAC>AAT p.N81N TJP3_uc010xhs.1_Silent_p.N62N|TJP3_uc010xht.1_Silent_p.N26N|TJP3_uc010xhu.1_Silent_p.N71N|TJP3_uc010xhw.1_Silent_p.N81N NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 62 PDZ 1. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) TCATGGTGAACGGGGTTTCCA 0.597 MATK 4145 broad.mit.edu 37 19 3783147 3783147 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:3783147G>A uc002lyt.2 - 7 1053 c.653C>T c.(652-654)TCG>TTG p.S218L MATK_uc002lyv.2_Missense_Mutation_p.S219L|MATK_uc002lyu.2_Missense_Mutation_p.S177L|MATK_uc010dtq.2_Missense_Mutation_p.S218L NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 218 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCTCGGCCGACTTGGTCCC 0.657 TMEM146 257062 broad.mit.edu 37 19 5757927 5757927 + Missense_Mutation SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:5757927A>G uc002mda.2 + 14 1413 c.1352A>G c.(1351-1353)AAC>AGC p.N451S TMEM146_uc010duj.1_Missense_Mutation_p.N109S NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 451 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCAGATGGGAACACCAAGTAC 0.567 NFIX 4784 broad.mit.edu 37 19 13192662 13192662 + Frame_Shift_Del DEL C - - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:13192662delC uc010xmx.1 + 8 1324 c.1271delC c.(1270-1272)ACCfs p.T424fs NFIX_uc002mwd.2_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.2_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.2_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.1_Frame_Shift_Del_p.T415fs Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 416 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) GGCCAGGCCACCGGACAGGTG 0.612 OREG0025286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NPHS1 4868 broad.mit.edu 37 19 36340038 36340038 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:36340038C>T uc002oby.2 - 8 852 c.852G>A c.(850-852)CCG>CCA p.P284P NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 284 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGTGGACACCGGCTGGCCAT 0.677 ZNF526 116115 broad.mit.edu 37 19 42730344 42730344 + Missense_Mutation SNP C G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:42730344C>G uc002osz.1 + 3 1945 c.1789C>G c.(1789-1791)CGA>GGA p.R597G NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) GGTCCATGCCCGAGCTCGGAC 0.612 ZNF667 63934 broad.mit.edu 37 19 56953854 56953859 + In_Frame_Del DEL CTTCTC - - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:56953854_56953859delCTTCTC uc002qnd.2 - 5 667_672 c.505_510delGAGAAG c.(505-510)GAGAAGdel p.EK169del ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_In_Frame_Del_p.EK169del|ZNF667_uc010etm.2_In_Frame_Del_p.EK112del NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 169_170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) ATTCAAAAGGCTTCTCTCCTGTATGA 0.374 ZNF606 80095 broad.mit.edu 37 19 58490980 58490980 + Missense_Mutation SNP G C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr19:58490980G>C uc002qqw.2 - 7 1686 c.1068C>G c.(1066-1068)TTC>TTG p.F356L ZNF606_uc010yhp.1_Missense_Mutation_p.F266L NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TAAAGGATGAGAAATAAAAGA 0.333 TPO 7173 broad.mit.edu 37 2 1488428 1488428 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:1488428G>A uc002qww.2 + 9 1490 c.1399G>A c.(1399-1401)GTG>ATG p.V467M TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.V467M|TPO_uc002qwr.2_Missense_Mutation_p.V467M|TPO_uc002qwx.2_Missense_Mutation_p.V467M|TPO_uc010yio.1_Missense_Mutation_p.V294M|TPO_uc010yip.1_Missense_Mutation_p.V467M|TPO_uc002qwy.1_Translation_Start_Site|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 467 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCAGCAGTACGTGGGTCCCTA 0.587 EMILIN1 11117 broad.mit.edu 37 2 27303034 27303034 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:27303034C>T uc002rii.3 + 2 614 c.186C>T c.(184-186)TAC>TAT p.Y62Y EMILIN1_uc010eyq.1_Silent_p.Y62Y NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 62 EMI. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGTGCCTACGTGGTGACCC 0.592 PSME4 23198 broad.mit.edu 37 2 54094006 54094006 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:54094006G>A uc002rxp.2 - 45 5331 c.5275C>T c.(5275-5277)CGC>TGC p.R1759C PSME4_uc010yop.1_Missense_Mutation_p.R1649C|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1759 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CCAGCATGGCGTTTGACCAAC 0.418 IL1R2 7850 broad.mit.edu 37 2 102638708 102638708 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:102638708C>T uc002tbm.2 + 6 977 c.748C>T c.(748-750)CTG>TTG p.L250L IL1R2_uc002tbn.2_Silent_p.L250L|IL1R2_uc002tbo.1_Silent_p.L250L NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 250 Extracellular (Potential).|Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) ATCAGCTTCTCTGGGTAAGGC 0.507 SLC5A7 60482 broad.mit.edu 37 2 108609520 108609520 + Missense_Mutation SNP C A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:108609520C>A uc002tdv.2 + 4 661 c.385C>A c.(385-387)CTC>ATC p.L129I SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.L129I|SLC5A7_uc010ywn.1_Missense_Mutation_p.L16I NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 129 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.L129L(1) ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CATGGGCGGACTCCTGTTTAT 0.453 STAM2 10254 broad.mit.edu 37 2 153003822 153003822 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:153003822C>T uc002tyc.3 - 5 651 c.301G>A c.(301-303)GCA>ACA p.A101T STAM2_uc010foa.1_Missense_Mutation_p.A101T|STAM2_uc002tyd.2_Missense_Mutation_p.A101T NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 101 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) TTAGGATGTGCCTTTTAAGGA 0.299 NHEJ1 79840 broad.mit.edu 37 2 220012493 220012493 + Silent SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr2:220012493G>A uc002vjp.3 - 4 561 c.415C>T c.(415-417)CTG>TTG p.L139L NHEJ1_uc002vjq.3_RNA NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 139 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) ATGCCCATCAGAGGACGAATC 0.433 Direct_reversal_of_damage|NHEJ PLCB4 5332 broad.mit.edu 37 20 9417712 9417712 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr20:9417712G>A uc002wnf.2 + 28 2777 c.2641G>A c.(2641-2643)GCC>ACC p.A881T PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.2_Missense_Mutation_p.A893T|PLCB4_uc002wne.2_Missense_Mutation_p.A881T|PLCB4_uc002wnh.2_Missense_Mutation_p.A728T NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 881 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 GGCCAACACCGCCAAAGCAAA 0.512 KIF16B 55614 broad.mit.edu 37 20 16506810 16506810 + Missense_Mutation SNP G C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr20:16506810G>C uc002wpg.1 - 3 316 c.158C>G c.(157-159)ACC>AGC p.T53S KIF16B_uc010gch.1_Missense_Mutation_p.T53S|KIF16B_uc010gci.1_Missense_Mutation_p.T53S|KIF16B_uc010gcj.1_Missense_Mutation_p.T53S NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 53 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GAAGGTCTTGGTCCGTTCTCT 0.353 SSTR4 6754 broad.mit.edu 37 20 23016581 23016581 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr20:23016581C>T uc002wsr.2 + 1 525 c.461C>T c.(460-462)GCG>GTG p.A154V NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 154 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCTCTGCGCGCGGCGACCTAC 0.662 BPIL1 80341 broad.mit.edu 37 20 31606072 31606072 + Missense_Mutation SNP C G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr20:31606072C>G uc002wyj.2 + 8 779 c.585C>G c.(583-585)AAC>AAG p.N195K NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 195 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 AAGGCCTCAACCCCGTGGGTC 0.473 PPP1R16B 26051 broad.mit.edu 37 20 37534721 37534721 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr20:37534721C>T uc002xje.2 + 7 995 c.806C>T c.(805-807)GCT>GTT p.A269V PPP1R16B_uc010ggc.2_Intron NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 269 ANK 4. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTGCATGCAGCTGCCTTCTGG 0.607 MX2 4600 broad.mit.edu 37 21 42773954 42773954 + Missense_Mutation SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr21:42773954A>G uc002yzf.1 + 11 1576 c.1472A>G c.(1471-1473)GAG>GGG p.E491G MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 491 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CGAGGCAAGGAGCTTCTGGGA 0.433 XYLB 9942 broad.mit.edu 37 3 38411555 38411555 + Missense_Mutation SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr3:38411555A>G uc003cic.2 + 9 764 c.655A>G c.(655-657)ATG>GTG p.M219V XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 219 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) AGGTTCTGGAATGAATTTGTT 0.443 CD96 10225 broad.mit.edu 37 3 111264248 111264248 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr3:111264248C>T uc003dxw.2 + 2 587 c.417C>T c.(415-417)CAC>CAT p.H139H CD96_uc003dxv.2_Silent_p.H139H|CD96_uc003dxx.2_Silent_p.H139H|CD96_uc010hpy.1_Silent_p.H139H NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 139 Extracellular (Potential). cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 TTCAGACACACGGTAAGCATA 0.418 Opitz_Trigonocephaly_syndrome DOK7 285489 broad.mit.edu 37 4 3478126 3478126 + Missense_Mutation SNP C A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:3478126C>A uc003ghd.2 + 4 459 c.389C>A c.(388-390)ACC>AAC p.T130N DOK7_uc003ghe.2_5'UTR NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 130 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCCGGCTACCCTGCACCTC 0.512 GABRA4 2557 broad.mit.edu 37 4 46967126 46967126 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:46967126G>A uc003gxg.2 - 8 1134 c.995C>T c.(994-996)TCG>TTG p.S332L NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 332 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATAAGGGCCGAAAATACAAA 0.458 NUP54 53371 broad.mit.edu 37 4 77065621 77065621 + Missense_Mutation SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:77065621A>G uc003hjs.2 - 2 201 c.73T>C c.(73-75)TTT>CTT p.F25L NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.F25L|NUP54_uc003hjt.2_5'UTR NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 25 Gly-rich.|2.|9 X 2 AA repeats of F-G. AGGF -> GWV (in Ref. 1; AAF67488). carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ovary(1)|lung(1) 2 AATCCTCCAAACCCACCTAAT 0.333 ARHGAP24 83478 broad.mit.edu 37 4 86916597 86916597 + Missense_Mutation SNP C A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:86916597C>A uc003hpk.2 + 9 2239 c.1790C>A c.(1789-1791)CCG>CAG p.P597Q ARHGAP24_uc003hpl.2_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.2_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.2_Missense_Mutation_p.P504Q NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 597 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GATGGGCCCCCGCAGGACGAC 0.557 PDHA2 5161 broad.mit.edu 37 4 96761886 96761886 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:96761886C>T uc003htr.3 + 1 648 c.585C>T c.(583-585)GGC>GGT p.G195G NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 195 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATGGGGATGGCGCTGCGAATC 0.473 ADH7 131 broad.mit.edu 37 4 100349053 100349053 + Silent SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:100349053G>A uc003huv.1 - 5 576 c.477C>T c.(475-477)ACC>ACT p.T159T NM_000673 NP_000664 P40394 ADH7_HUMAN class IV alcohol dehydrogenase, mu or sigma 159 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity lung(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CTGTGTACTCGGTAAATGTAC 0.458 DCHS2 54798 broad.mit.edu 37 4 155157377 155157377 + Silent SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:155157377T>C uc003inw.2 - 25 7062 c.7062A>G c.(7060-7062)GTA>GTG p.V2354V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2354 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AACAGGGTGATACAATAGAAT 0.393 CCDC110 256309 broad.mit.edu 37 4 186381079 186381079 + Missense_Mutation SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr4:186381079T>C uc003ixu.3 - 6 738 c.662A>G c.(661-663)GAT>GGT p.D221G CCDC110_uc003ixv.3_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 221 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTGGATTTATCCAGAATTAC 0.323 WDR70 55100 broad.mit.edu 37 5 37480065 37480065 + Nonsense_Mutation SNP T G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr5:37480065T>G uc003jkv.2 + 8 874 c.816T>G c.(814-816)TAT>TAG p.Y272* WDR70_uc010iva.1_Nonsense_Mutation_p.Y272* NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 272 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGACCAGTATATTGTGGACA 0.328 C5orf34 375444 broad.mit.edu 37 5 43509299 43509299 + Missense_Mutation SNP T G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr5:43509299T>G uc003jnz.1 - 3 460 c.143A>C c.(142-144)GAA>GCA p.E48A C5orf34_uc011cpx.1_Intron NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 48 breast(1) 1 Lung NSC(6;2.07e-05) TTCTGGTTGTTCTAAAGGATG 0.328 PCDHA10 56139 broad.mit.edu 37 5 140237634 140237634 + Silent SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr5:140237634G>A uc003lhx.2 + 1 2001 c.2001G>A c.(1999-2001)TCG>TCA p.S667S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.S667S NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 667 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTTGTGTCGCTTGTGGAGG 0.667 ERGIC1 57222 broad.mit.edu 37 5 172336690 172336690 + Missense_Mutation SNP A G G TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr5:172336690A>G uc003mbw.3 + 4 370 c.176A>G c.(175-177)GAT>GGT p.D59G ERGIC1_uc003mby.3_5'UTR|ERGIC1_uc011dfa.1_5'UTR|ERGIC1_uc003mbz.3_Missense_Mutation_p.D14G NM_001031711 NP_001026881 Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate 59 Lumenal (Potential). ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTCTATGTCGATGACCCAGAC 0.542 KIF13A 63971 broad.mit.edu 37 6 17837205 17837205 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr6:17837205C>T uc003ncg.3 - 11 1164 c.1059G>A c.(1057-1059)GTG>GTA p.V353V KIF13A_uc003ncf.2_Silent_p.V353V|KIF13A_uc003nch.3_Silent_p.V353V|KIF13A_uc003nci.3_Silent_p.V353V|KIF13A_uc003ncj.2_Silent_p.V29V NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 353 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CAGCATGGTTCACAATCCTTT 0.502 RFX6 222546 broad.mit.edu 37 6 117215161 117215161 + Missense_Mutation SNP A C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr6:117215161A>C uc003pxm.2 + 5 641 c.578A>C c.(577-579)TAT>TCT p.Y193S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 193 RFX-type winged-helix. glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TATCATTACTATGGGATTGGC 0.413 SYNJ2 8871 broad.mit.edu 37 6 158483196 158483196 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr6:158483196G>A uc003qqx.1 + 8 1202 c.1127G>A c.(1126-1128)CGT>CAT p.R376H SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.R376H|SYNJ2_uc003qqy.1_Missense_Mutation_p.R89H|SYNJ2_uc011efn.1_Missense_Mutation_p.R304H|SYNJ2_uc010kjo.1_Missense_Mutation_p.R325H|SYNJ2_uc003qqz.1_5'UTR NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 376 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GTCAGTCCACGGTGAGGCTCG 0.607 IGFBP1 3484 broad.mit.edu 37 7 45932660 45932660 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr7:45932660C>T uc003tnp.2 + 4 1043 c.750C>T c.(748-750)AAC>AAT p.N250N IGFBP1_uc003tno.3_Silent_p.N248N|IGFBP1_uc010kyn.2_Silent_p.N207N NM_000596 NP_000587 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 250 Thyroglobulin type-1. extracellular space insulin-like growth factor binding lung(1) 1 GAGACCCCAACTGCCAGATAT 0.433 CDHR3 222256 broad.mit.edu 37 7 105660972 105660972 + Missense_Mutation SNP C T T rs144905888 by1000genomes TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr7:105660972C>T uc003vdl.3 + 13 1915 c.1807C>T c.(1807-1809)CGT>TGT p.R603C CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.R590C|CDHR3_uc011klt.1_Missense_Mutation_p.R515C|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 603 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CAGATCTTTCCGTTATTCCAT 0.498 PARP12 64761 broad.mit.edu 37 7 139726106 139726106 + Silent SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr7:139726106C>T uc003vvl.1 - 11 2545 c.1671G>A c.(1669-1671)GTG>GTA p.V557V PARP12_uc003vvk.1_Silent_p.V343V|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 557 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) GCCGCTCGTCCACGGCCTTCC 0.572 CNTNAP2 26047 broad.mit.edu 37 7 146818164 146818164 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr7:146818164G>A uc003weu.1 + 6 1364 c.848G>A c.(847-849)CGC>CAC p.R283H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 283 Laminin G-like 1.|Extracellular (Potential). R -> C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTCATTGAGCGCCAGGGGCGG 0.532 HNSCC(39;0.1) MLL3 58508 broad.mit.edu 37 7 151962124 151962124 + Missense_Mutation SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr7:151962124T>C uc003wla.2 - 8 1402 c.1183A>G c.(1183-1185)AAA>GAA p.K395E NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 395 PHD-type 2. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AAAACTTACTTGCAGTTCTGG 0.403 N medulloblastoma NEFM 4741 broad.mit.edu 37 8 24772112 24772112 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr8:24772112C>T uc003xed.3 + 1 839 c.806C>T c.(805-807)GCG>GTG p.A269V NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 269 Rod.|Coil 2A. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ATCTCGACGGCGCTGAAGGAA 0.592 CA9 768 broad.mit.edu 37 9 35674152 35674152 + Missense_Mutation SNP C T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr9:35674152C>T uc003zxo.3 + 1 238 c.196C>T c.(196-198)CCC>TCC p.P66S C9orf100_uc003zxl.2_RNA|CA9_uc003zxn.1_RNA|CA9_uc003zxp.3_Missense_Mutation_p.P66S NM_001216 NP_001207 Q16790 CAH9_HUMAN carbonic anhydrase IX precursor 66 Extracellular.|Proteoglycan-like (PG). one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding ovary(4)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGAGGATCTGCCCAGTGAAGA 0.592 SPAG8 26206 broad.mit.edu 37 9 35810291 35810291 + Missense_Mutation SNP G T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr9:35810291G>T uc003zye.2 - 6 1331 c.1216C>A c.(1216-1218)CAG>AAG p.Q406K SPAG8_uc003zyf.2_Missense_Mutation_p.Q323K|SPAG8_uc003zyg.2_Missense_Mutation_p.Q406K NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 406 acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GGTTGCTCCTGGCGGTAGTCG 0.607 MELK 9833 broad.mit.edu 37 9 36651764 36651764 + Missense_Mutation SNP G T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr9:36651764G>T uc003zzn.2 + 12 1081 c.943G>T c.(943-945)GCT>TCT p.A315S MELK_uc011lpm.1_Missense_Mutation_p.A184S|MELK_uc011lpn.1_Missense_Mutation_p.A315S|MELK_uc011lpo.1_Missense_Mutation_p.A121S|MELK_uc010mll.2_Missense_Mutation_p.A283S|MELK_uc011lpp.1_Missense_Mutation_p.A267S|MELK_uc010mlm.2_Missense_Mutation_p.A244S|MELK_uc011lpq.1_Missense_Mutation_p.A121S|MELK_uc011lpr.1_Missense_Mutation_p.A244S|MELK_uc011lps.1_Missense_Mutation_p.A235S NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 315 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) TCACCTCACGGCTACCTATCT 0.403 FAM75A2 642265 broad.mit.edu 37 9 39888189 39888189 + Silent SNP G T T TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr9:39888189G>T uc004abp.2 + 4 1205 c.1176G>T c.(1174-1176)CTG>CTT p.L392L NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN hypothetical protein LOC642265 392 integral to membrane 0 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CGAAACAGCTGCCCGGACCTC 0.488 SH2D3C 10044 broad.mit.edu 37 9 130502108 130502108 + Frame_Shift_Del DEL C - - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chr9:130502108delC uc004bsc.2 - 11 2402 c.2260delG c.(2260-2262)GAGfs p.E754fs SH2D3C_uc010mxo.2_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.2_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.3_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.1_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsa.2_Frame_Shift_Del_p.E597fs|SH2D3C_uc004bsb.2_Frame_Shift_Del_p.E686fs NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 754 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GAGTCACACTCCAGCAGGGTG 0.657 MAGEB18 286514 broad.mit.edu 37 X 26157158 26157158 + Missense_Mutation SNP G A A TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chrX:26157158G>A uc004dbq.1 + 2 243 c.56G>A c.(55-57)CGT>CAT p.R19H NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 19 protein binding central_nervous_system(1) 1 CACCAGGCTCGTTGTGAGAAT 0.532 CXorf48 54967 broad.mit.edu 37 X 134294392 134294392 + Missense_Mutation SNP T C C TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224 1ab37cba-6ad6-4825-98bb-b8e102f64ed2 g.chrX:134294392T>C uc004eyk.1 - 3 1024 c.368A>G c.(367-369)GAA>GGA p.E123G CXorf48_uc004eyl.1_Missense_Mutation_p.E123G NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN hypothetical protein LOC54967 isoform 1 123 0 Acute lymphoblastic leukemia(192;0.000127) AATATTATCTTCATTTATAGA 0.308