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 DNAJC6 9829 broad.mit.edu 37 1 65845142 65845142 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr1:65845142G>A uc001dcd.1 + 5 594 c.430G>A c.(430-432)GTG>ATG p.V144M DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M|DNAJC6_uc001dce.1_Missense_Mutation_p.V201M NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 144 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 CCTTTTTGCTGTGTGTCGGAA 0.458 VAV3 10451 broad.mit.edu 37 1 108417540 108417540 + Missense_Mutation SNP C A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr1:108417540C>A uc001dvk.1 - 2 358 c.304G>T c.(304-306)GTT>TTT p.V102F VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 102 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) AAGTCACGAACATCAAACAAG 0.358 FLG 2312 broad.mit.edu 37 1 152284952 152284952 + Nonsense_Mutation SNP C A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr1:152284952C>A uc001ezu.1 - 3 2446 c.2410G>T c.(2410-2412)GAG>TAG p.E804* uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 804 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) TGGGAGGACTCAGACTGTTTA 0.572 Ichthyosis CD1E 913 broad.mit.edu 37 1 158323687 158323687 + Translation_Start_Site SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr1:158323687C>T uc001fse.2 + 1 148 c.-91C>T c.(-93--89)GACGA>GATGA CD1E_uc010pid.1_Intron|CD1E_uc010pie.1_Translation_Start_Site|CD1E_uc010pif.1_Translation_Start_Site|CD1E_uc001fsd.2_Translation_Start_Site|CD1E_uc001fsk.2_Translation_Start_Site|CD1E_uc001fsj.2_Translation_Start_Site|CD1E_uc001fsc.2_Translation_Start_Site|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Translation_Start_Site|CD1E_uc001fsf.2_Translation_Start_Site|CD1E_uc001fry.2_Translation_Start_Site|CD1E_uc001fsg.2_Translation_Start_Site|CD1E_uc001fsh.2_Translation_Start_Site|CD1E_uc001fsi.2_Translation_Start_Site|CD1E_uc009wsv.2_Translation_Start_Site|CD1E_uc001frz.2_Translation_Start_Site|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GGAAGTCAGACGAGAGTGCAA 0.542 PTEN 5728 broad.mit.edu 37 10 89685315 89685318 + Splice_Site DEL GTAA - - TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr10:89685315_89685318delGTAA uc001kfb.2 + 4 1240 c.209_splice c.e4+1 p.L70_splice NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 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.?(15)|p.R55fs*1(4)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATACAATCTGTAAGTATGTTTTC 0.275 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) BTRC 8945 broad.mit.edu 37 10 103281492 103281492 + Missense_Mutation SNP T G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr10:103281492T>G uc001kta.2 + 5 534 c.421T>G c.(421-423)TTT>GTT p.F141V BTRC_uc001ktb.2_Missense_Mutation_p.F105V|BTRC_uc001ktc.2_Missense_Mutation_p.F115V NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 141 Homodimerization domain D. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TGTCAAATACTTTGAGCAGTG 0.413 PITX3 5309 broad.mit.edu 37 10 103990780 103990780 + Missense_Mutation SNP C A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr10:103990780C>A uc001kuu.1 - 4 554 c.400G>T c.(400-402)GCG>TCG p.A134S NM_005029 NP_005020 O75364 PITX3_HUMAN paired-like homeodomain 3 134 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGCGGCGCCGCGAAGCTGCCT 0.711 C11orf30 56946 broad.mit.edu 37 11 76164415 76164415 + Missense_Mutation SNP A C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr11:76164415A>C uc001oxl.2 + 4 371 c.228A>C c.(226-228)TTA>TTC p.L76F C11orf30_uc001oxj.2_Missense_Mutation_p.L76F|C11orf30_uc001oxk.2_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.2_Missense_Mutation_p.L76F|C11orf30_uc010rsb.1_Missense_Mutation_p.L76F|C11orf30_uc010rsc.1_Missense_Mutation_p.L76F|C11orf30_uc001oxn.2_Missense_Mutation_p.L76F|C11orf30_uc010rsd.1_Missense_Mutation_p.L76F NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 76 Interaction with BRCA2.|ENT. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 ATGAACGGTTAACAACAATTG 0.403 ELMOD1 55531 broad.mit.edu 37 11 107518220 107518220 + Silent SNP T A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr11:107518220T>A uc010rvs.1 + 7 851 c.447T>A c.(445-447)ACT>ACA p.T149T ELMOD1_uc001pjm.2_Silent_p.T149T|ELMOD1_uc010rvt.1_Silent_p.T143T NM_018712 NP_061182 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 isoform 1 149 ELMO. phagocytosis cytoskeleton GTPase activator activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) AGCCCAATACTCCACTGGAAT 0.383 WNK1 65125 broad.mit.edu 37 12 998382 998382 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr12:998382C>T uc001qio.3 + 21 5948 c.5441C>T c.(5440-5442)GCG>GTG p.A1814V WNK1_uc001qip.3_Missense_Mutation_p.A1567V|WNK1_uc001qir.3_Missense_Mutation_p.A987V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1814 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTGACTTCTGCGGTTGGTGTA 0.368 RERG 85004 broad.mit.edu 37 12 15262109 15262109 + Nonsense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr12:15262109G>A uc001rcs.2 - 4 675 c.535C>T c.(535-537)CGA>TGA p.R179* RERG_uc001rct.2_Nonsense_Mutation_p.R179*|RERG_uc010shu.1_Nonsense_Mutation_p.R160* NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 179 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 GAGCTGCGTCGCCTCGTCTTG 0.532 AVPR1A 552 broad.mit.edu 37 12 63543857 63543857 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr12:63543857G>A uc001sro.1 - 1 2734 c.760C>T c.(760-762)CGC>TGC p.R254C NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 254 Cytoplasmic (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TTGCTCTGGCGCGACGCCGTC 0.617 SYT1 6857 broad.mit.edu 37 12 79693293 79693293 + Nonsense_Mutation SNP G T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr12:79693293G>T uc001sys.2 + 9 1443 c.772G>T c.(772-774)GAG>TAG p.E258* SYT1_uc001syt.2_Nonsense_Mutation_p.E258*|SYT1_uc001syu.2_Nonsense_Mutation_p.E255*|SYT1_uc001syv.2_Nonsense_Mutation_p.E258* NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 258 Cytoplasmic (Potential).|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 CCATGTAACTGAGGAATGGCG 0.418 KSR2 283455 broad.mit.edu 37 12 118198971 118198971 + Silent SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr12:118198971C>T uc001two.2 - 4 799 c.744G>A c.(742-744)CCG>CCA p.P248P NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 277 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCTCATGGGCGGCGTGCCCG 0.701 ZNF268 10795 broad.mit.edu 37 12 133780200 133780200 + Missense_Mutation SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr12:133780200A>G uc010tcf.1 + 6 2258 c.1928A>G c.(1927-1929)AAT>AGT p.N643S ZNF268_uc010tbv.1_Missense_Mutation_p.N482S|ZNF268_uc010tbw.1_Missense_Mutation_p.N482S|ZNF268_uc010tbx.1_Missense_Mutation_p.N503S|ZNF268_uc010tby.1_Missense_Mutation_p.N482S|ZNF268_uc010tbz.1_Missense_Mutation_p.N482S|ZNF268_uc010tca.1_Missense_Mutation_p.N482S|ZNF268_uc010tcb.1_Missense_Mutation_p.N503S|ZNF268_uc010tcc.1_Missense_Mutation_p.N482S|ZNF268_uc010tcd.1_Missense_Mutation_p.N482S|ZNF268_uc010tce.1_Missense_Mutation_p.N482S|ZNF268_uc010tcg.1_Missense_Mutation_p.N482S|ZNF268_uc010tch.1_Missense_Mutation_p.N643S NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 643 C2H2-type 14. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TATAGTTGTAATGAATGTGGA 0.383 MTUS2 23281 broad.mit.edu 37 13 29675102 29675102 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr13:29675102C>T uc001usl.3 + 3 2727 c.2669C>T c.(2668-2670)GCC>GTC p.A890V NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 880 Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GGCCGGCCAGCCACCCGTAAG 0.582 PDS5B 23047 broad.mit.edu 37 13 33327545 33327545 + Missense_Mutation SNP G C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr13:33327545G>C uc010abf.2 + 25 2970 c.2812G>C c.(2812-2814)GAG>CAG p.E938Q PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 938 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GCTTCCACTTGAGTATATGGC 0.413 GPR180 160897 broad.mit.edu 37 13 95275364 95275364 + Missense_Mutation SNP G C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr13:95275364G>C uc001vly.2 + 7 974 c.896G>C c.(895-897)AGT>ACT p.S299T GPR180_uc001vlz.2_Missense_Mutation_p.S198T|GPR180_uc010afi.2_Missense_Mutation_p.S60T NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 299 Helical; (Potential). integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) CTTTTGCAGAGTGTTTTGCTA 0.299 GZMB 3002 broad.mit.edu 37 14 25101153 25101153 + Nonsense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr14:25101153G>A uc001wps.2 - 4 577 c.511C>T c.(511-513)CGA>TGA p.R171* GZMB_uc010ama.2_Nonsense_Mutation_p.R159*|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 171 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) TCGCACTTTCGATCTTCCTGC 0.517 HEATR5A 25938 broad.mit.edu 37 14 31852819 31852835 + Frame_Shift_Del DEL GTGAAGACTTATGTCCA - - TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr14:31852819_31852835delGTGAAGACTTATGTCCA uc001wrf.3 - 4 686_702 c.609_625delTGGACATAAGTCTTCAC c.(607-627)ACTGGACATAAGTCTTCACCTfs p.T203fs HEATR5A_uc010ami.2_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 490_496 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT 0.461 NIN 51199 broad.mit.edu 37 14 51239167 51239167 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr14:51239167C>T uc001wym.2 - 9 1024 c.833G>A c.(832-834)CGA>CAA p.R278Q NIN_uc001wyi.2_Missense_Mutation_p.R278Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.R278Q|NIN_uc010tqp.1_Missense_Mutation_p.R284Q|NIN_uc001wyo.2_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 278 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TGTGGTACGTCGTCCACTCTC 0.498 T PDGFRB MPD SMEK1 55671 broad.mit.edu 37 14 91948148 91948148 + Silent SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr14:91948148A>G uc001xzn.2 - 4 1509 c.687T>C c.(685-687)GCT>GCC p.A229A SMEK1_uc001xzm.2_Silent_p.A229A|SMEK1_uc001xzo.2_Silent_p.A229A|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.A105A NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 229 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) GTTGTGATAAAGCAGGATCAT 0.353 C15orf2 23742 broad.mit.edu 37 15 24921847 24921847 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr15:24921847C>T uc001ywo.2 + 1 1307 c.833C>T c.(832-834)GCG>GTG p.A278V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 278 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AAGTTGGCTGCGGAAGTGCTG 0.602 MAPKBP1 23005 broad.mit.edu 37 15 42109162 42109162 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr15:42109162C>T uc001zok.3 + 15 1944 c.1658C>T c.(1657-1659)GCC>GTC p.A553V MAPKBP1_uc001zoj.3_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.2_Missense_Mutation_p.A54V|MAPKBP1_uc010bci.2_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.1_Missense_Mutation_p.A386V|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.A54V NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 553 WD 8. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GTGCTGGATGCCGGGCGGGAG 0.582 TLN2 83660 broad.mit.edu 37 15 63127965 63127965 + Silent SNP C T T rs139730009 TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr15:63127965C>T uc002alb.3 + 53 7158 c.7158C>T c.(7156-7158)GAC>GAT p.D2386D TLN2_uc002alc.3_Silent_p.D779D|TLN2_uc010uic.1_Translation_Start_Site|uc002ale.1_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 2386 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 ATGCTGCAGACGACGGACAGT 0.597 SV2B 9899 broad.mit.edu 37 15 91811770 91811770 + Silent SNP C T T rs140230861 TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr15:91811770C>T uc002bqv.2 + 8 1699 c.1308C>T c.(1306-1308)TAC>TAT p.Y436Y SV2B_uc002bqt.2_Silent_p.Y436Y|SV2B_uc010uqv.1_Silent_p.Y285Y|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 436 Extracellular (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) AGCATGTGTACGGCGCCACAA 0.418 CREBBP 1387 broad.mit.edu 37 16 3820625 3820625 + Silent SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr16:3820625A>G uc002cvv.2 - 14 3030 c.2826T>C c.(2824-2826)CCT>CCC p.P942P CREBBP_uc002cvw.2_Silent_p.P904P NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 942 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCGATGACTGAGGGGTAGCCA 0.627 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome ATXN2L 11273 broad.mit.edu 37 16 28844550 28844550 + Silent SNP A T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr16:28844550A>T uc002drc.2 + 14 1998 c.1830A>T c.(1828-1830)CCA>CCT p.P610P uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.P586P|ATXN2L_uc002drb.2_Silent_p.P610P|ATXN2L_uc002dqy.2_Silent_p.P610P|ATXN2L_uc002dra.2_Silent_p.P610P|ATXN2L_uc002dqz.2_Silent_p.P610P|ATXN2L_uc010vdb.1_Silent_p.P616P|ATXN2L_uc002dre.2_Silent_p.P610P|ATXN2L_uc002drf.2_Silent_p.P19P|ATXN2L_uc002drg.2_5'Flank NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 610 membrane upper_aerodigestive_tract(1)|ovary(1) 2 AGGACAAACCACCCCTGGCAC 0.592 CCDC135 84229 broad.mit.edu 37 16 57741548 57741548 + Silent SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr16:57741548G>A uc002emi.2 + 7 1124 c.1035G>A c.(1033-1035)AAG>AAA p.K345K CCDC135_uc002emj.2_Silent_p.K345K|CCDC135_uc002emk.2_Silent_p.K280K NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 345 cytoplasm central_nervous_system(1) 1 GGAACCACAAGAACTACTGGA 0.552 GUCY2D 3000 broad.mit.edu 37 17 7909994 7909994 + Missense_Mutation SNP C G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr17:7909994C>G uc002gjt.2 + 4 1414 c.1340C>G c.(1339-1341)CCC>CGC p.P447R NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 447 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GGACCTGACCCCTCGTGCTGG 0.612 HS3ST3A1 9955 broad.mit.edu 37 17 13400013 13400013 + Missense_Mutation SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr17:13400013A>G uc002gob.1 - 2 1520 c.722T>C c.(721-723)GTG>GCG p.V241A NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN heparan sulfate D-glucosaminyl 241 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity ovary(1)|central_nervous_system(1) 2 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTCCCGCACCACCACGATGAG 0.632 MRC2 9902 broad.mit.edu 37 17 60757258 60757258 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr17:60757258G>A uc002jad.2 + 14 2695 c.2293G>A c.(2293-2295)GTA>ATA p.V765I MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 765 Extracellular (Potential).|C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GAGCGACGGCGTAGGGGTGAG 0.662 ARHGAP28 79822 broad.mit.edu 37 18 6894892 6894892 + Splice_Site SNP T C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr18:6894892T>C uc010wzi.1 + 14 1612 c.1374_splice c.e14+2 p.M458_splice ARHGAP28_uc002knc.2_Splice_Site_p.M583_splice|ARHGAP28_uc002knd.2_Splice_Site_p.M476_splice|ARHGAP28_uc002kne.2_Splice_Site_p.M476_splice|ARHGAP28_uc002knf.2_Splice_Site_p.M467_splice B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) AGACGAATGGTAAGAAAAATA 0.289 KIAA0802 23255 broad.mit.edu 37 18 8783917 8783917 + Missense_Mutation SNP G C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr18:8783917G>C uc002knr.2 + 6 949 c.807G>C c.(805-807)GAG>GAC p.E269D KIAA0802_uc002knq.2_Missense_Mutation_p.E269D|KIAA0802_uc010dkw.1_Missense_Mutation_p.E107D NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 620 Potential. 0 ACTCCCTGGAGTCCTCCACTG 0.637 CIDEA 1149 broad.mit.edu 37 18 12274219 12274219 + Missense_Mutation SNP A T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr18:12274219A>T uc002kqt.3 + 4 523 c.458A>T c.(457-459)GAG>GTG p.E153V CIDEA_uc002kqu.3_Missense_Mutation_p.E187V|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 153 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 ACCATGTATGAGATGTACTCC 0.587 DSC1 1823 broad.mit.edu 37 18 28736015 28736015 + Silent SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr18:28736015G>A uc002kwn.2 - 4 724 c.462C>T c.(460-462)CAC>CAT p.H154H DSC1_uc002kwm.2_Silent_p.H154H NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 154 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCTGCTGAACGTGTTGTGGAA 0.403 DCC 1630 broad.mit.edu 37 18 50977004 50977004 + Missense_Mutation SNP A C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr18:50977004A>C uc002lfe.1 + 23 3951 c.3364A>C c.(3364-3366)ACC>CCC p.T1122P DCC_uc010dpf.1_Missense_Mutation_p.T757P NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1122 Helical; (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGTGATTTGCACCCGACGCTC 0.483 ZFR2 23217 broad.mit.edu 37 19 3825268 3825268 + Silent SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr19:3825268C>T uc002lyw.2 - 7 1185 c.1173G>A c.(1171-1173)GCG>GCA p.A391A ZFR2_uc010xhx.1_Intron NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 391 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TCTTGGCCAGCGCTGGCCTGC 0.672 INSR 3643 broad.mit.edu 37 19 7184472 7184472 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr19:7184472C>T uc002mgd.1 - 3 938 c.829G>A c.(829-831)GAC>AAC p.D277N INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.2_Missense_Mutation_p.D277N NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 277 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGCGCCAGTCCTGGAAGTGG 0.602 RAB11B 9230 broad.mit.edu 37 19 8468383 8468383 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr19:8468383G>A uc002mju.3 + 5 694 c.598G>A c.(598-600)GTG>ATG p.V200M NM_004218 NP_004209 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 200 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity 0 GGACATCAGCGTGCCGCCCAC 0.647 ZNF527 84503 broad.mit.edu 37 19 37879435 37879435 + Missense_Mutation SNP G C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr19:37879435G>C uc010efk.1 + 5 595 c.484G>C c.(484-486)GAC>CAC p.D162H ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGGAAAAGAGACAATGAATT 0.378 EHD3 30845 broad.mit.edu 37 2 31467312 31467312 + Missense_Mutation SNP A T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:31467312A>T uc002rnu.2 + 2 1008 c.400A>T c.(400-402)AAC>TAC p.N134Y EHD3_uc010ymt.1_Missense_Mutation_p.N134Y NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 134 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CGCCTTCTTGAACAGGTGAGT 0.537 BIRC6 57448 broad.mit.edu 37 2 32774411 32774411 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:32774411G>A uc010ezu.2 + 65 13141 c.13007G>A c.(13006-13008)AGT>AAT p.S4336N NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4336 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CCCGTCAGTAGTGCGGTAAAT 0.398 TUBA3D 113457 broad.mit.edu 37 2 132237806 132237806 + Silent SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:132237806C>T uc002tsu.3 + 4 647 c.540C>T c.(538-540)GCC>GCT p.A180A NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 180 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) TCTCCACAGCCGTGGTGGAGC 0.547 LY75 4065 broad.mit.edu 37 2 160729003 160729003 + Silent SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:160729003A>G uc002ubc.3 - 13 2145 c.2076T>C c.(2074-2076)GAT>GAC p.D692D LY75_uc002ubb.3_Silent_p.D692D|LY75_uc010fos.2_Silent_p.D692D|LY75_uc010fot.1_Silent_p.D692D NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 692 Extracellular (Potential).|C-type lectin 4. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) CCTTTATTTCATCCACATGGC 0.378 LRP2 4036 broad.mit.edu 37 2 170009391 170009391 + Missense_Mutation SNP G A A rs148356370 byFrequency TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:170009391G>A uc002ues.2 - 67 12592 c.12379C>T c.(12379-12381)CGC>TGC p.R4127C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4127 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGATTATTGCGGCCGGATTCA 0.468 PDE11A 50940 broad.mit.edu 37 2 178969184 178969184 + Missense_Mutation SNP T C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:178969184T>C uc002ulr.2 - 2 106 c.7A>G c.(7-9)AAG>GAG p.K3E PDE11A_uc002ult.1_Missense_Mutation_p.K3E NM_001077197 NP_001070665 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 3 Error:Variant_position_missing_in_Q9HCR9_after_alignment platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTTGCCTGCTTCAGCATCTCC 0.408 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial TTN 7273 broad.mit.edu 37 2 179442852 179442852 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:179442852G>A uc010zfg.1 - 271 60910 c.60686C>T c.(60685-60687)CCG>CTG p.P20229L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13924L|TTN_uc010zfi.1_Missense_Mutation_p.P13857L|TTN_uc010zfj.1_Missense_Mutation_p.P13732L|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21156 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) CATCCTTATCGGAGTCTTGTT 0.418 PTPRN 5798 broad.mit.edu 37 2 220159756 220159756 + Silent SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr2:220159756G>A uc002vkz.2 - 19 2705 c.2616C>T c.(2614-2616)TTC>TTT p.F872F PTPRN_uc010zlc.1_Silent_p.F782F|PTPRN_uc002vla.2_Silent_p.F843F|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 872 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GCCAGCTGAGGAAGTGGAACT 0.687 GSS 2937 broad.mit.edu 37 20 33516696 33516696 + Missense_Mutation SNP T A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr20:33516696T>A uc002xbg.2 - 13 1440 c.1360A>T c.(1360-1362)ATC>TTC p.I454F GSS_uc010zun.1_Missense_Mutation_p.I326F|GSS_uc010zuo.1_Missense_Mutation_p.I343F|GSS_uc010zup.1_Missense_Mutation_p.I385F|GSS_uc002xbh.2_RNA NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 454 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GCATGCTCGATGGCTTTGGTT 0.562 MED15 51586 broad.mit.edu 37 22 20939408 20939408 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr22:20939408G>A uc002zsp.2 + 16 2065 c.1985G>A c.(1984-1986)CGG>CAG p.R662Q MED15_uc002zsq.2_Missense_Mutation_p.R622Q|MED15_uc010gso.2_Missense_Mutation_p.R605Q|MED15_uc002zsr.2_Missense_Mutation_p.R596Q|MED15_uc011ahs.1_Missense_Mutation_p.R596Q|MED15_uc002zss.2_Missense_Mutation_p.R541Q|MED15_uc011ahu.1_Missense_Mutation_p.R372Q|MED15_uc002zst.2_Missense_Mutation_p.R278Q|MED15_uc002zsu.2_Missense_Mutation_p.R267Q NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 662 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTGTGCACCCGGAAGCGCAGG 0.682 NCAPH2 29781 broad.mit.edu 37 22 50956414 50956414 + Missense_Mutation SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr22:50956414A>G uc003blr.3 + 6 555 c.433A>G c.(433-435)ATC>GTC p.I145V NCAPH2_uc003blq.3_Missense_Mutation_p.I145V|NCAPH2_uc003blv.2_Missense_Mutation_p.I145V|NCAPH2_uc010hbb.2_5'UTR|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.I145V|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 145 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) GGTCCTCATCATCCCCCTCCT 0.612 DLEC1 9940 broad.mit.edu 37 3 38139020 38139020 + Silent SNP T C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr3:38139020T>C uc003cho.1 + 17 2478 c.2457T>C c.(2455-2457)TTT>TTC p.F819F DLEC1_uc003chp.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 819 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TCGGGGATTTTGAGTTGAACT 0.562 ATP6V1A 523 broad.mit.edu 37 3 113503555 113503555 + Missense_Mutation SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr3:113503555A>G uc003eao.2 + 5 505 c.439A>G c.(439-441)ATC>GTC p.I147V ATP6V1A_uc011bik.1_Missense_Mutation_p.I114V NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 147 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 TGGTAGTCATATCACTGGCGG 0.373 DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG - - rs150114751 byFrequency TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 FRYL 285527 broad.mit.edu 37 4 48575256 48575256 + Missense_Mutation SNP G C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr4:48575256G>C uc003gyh.1 - 26 3456 c.2851C>G c.(2851-2853)CTA>GTA p.L951V FRYL_uc003gyk.2_Missense_Mutation_p.L951V NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 951 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCCTCTATTAGTTCCCTGGAA 0.348 PITX2 5308 broad.mit.edu 37 4 111539315 111539315 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr4:111539315C>T uc003iad.2 - 5 1502 c.920G>A c.(919-921)AGT>AAT p.S307N PITX2_uc003iac.2_Missense_Mutation_p.S314N|PITX2_uc003iae.2_Missense_Mutation_p.S261N|PITX2_uc010iml.2_Missense_Mutation_p.S178N|PITX2_uc003iaf.2_Missense_Mutation_p.S307N NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 307 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTGGCAAGCACTCAGGTTGGA 0.632 FGA 2243 broad.mit.edu 37 4 155508007 155508007 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr4:155508007C>T uc003iod.1 - 5 632 c.574G>A c.(574-576)GTA>ATA p.V192I FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 192 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCAGATCTACTTCACGAGCT 0.418 DNAH5 1767 broad.mit.edu 37 5 13829731 13829731 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:13829731C>T uc003jfd.2 - 38 6374 c.6332G>A c.(6331-6333)CGT>CAT p.R2111H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2111 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GATAATCTGACGGTCAGGCAC 0.463 Kartagener_syndrome CMYA5 202333 broad.mit.edu 37 5 79030268 79030268 + Missense_Mutation SNP T G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:79030268T>G uc003kgc.2 + 2 5752 c.5680T>G c.(5680-5682)TGG>GGG p.W1894G NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1894 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GGATGAAAACTGGATGTTGGG 0.423 ZNF608 57507 broad.mit.edu 37 5 123983427 123983427 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:123983427C>T uc003ktq.1 - 4 2773 c.2650G>A c.(2650-2652)GAT>AAT p.D884N ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 884 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TAAACCTTATCGGCCTCAGCT 0.532 PCDHB15 56121 broad.mit.edu 37 5 140625602 140625602 + Missense_Mutation SNP T G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:140625602T>G uc003lje.2 + 1 456 c.456T>G c.(454-456)TTT>TTG p.F152L NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 152 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACTGTGTTTCCTCTGAAAA 0.438 ARHGEF37 389337 broad.mit.edu 37 5 148997790 148997790 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:148997790G>A uc003lra.1 + 6 774 c.710G>A c.(709-711)CGC>CAC p.R237H NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 237 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 CGGCTGGCCCGCATCAACACA 0.632 CLINT1 9685 broad.mit.edu 37 5 157232966 157232966 + Missense_Mutation SNP T C C TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:157232966T>C uc003lxj.1 - 7 1040 c.850A>G c.(850-852)ACC>GCC p.T284A CLINT1_uc003lxi.1_Missense_Mutation_p.T266A|CLINT1_uc011ddv.1_Missense_Mutation_p.T284A NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 284 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGATCAATGGTTTTGGAAGGA 0.473 N4BP3 23138 broad.mit.edu 37 5 177548865 177548865 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:177548865G>A uc003mik.1 + 5 1745 c.1498G>A c.(1498-1500)GTG>ATG p.V500M N4BP3_uc003mil.1_Missense_Mutation_p.V169M NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 500 Potential. cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGGAGCGCGTGCTGCGCTA 0.687 RASGEF1C 255426 broad.mit.edu 37 5 179555514 179555514 + Missense_Mutation SNP G T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr5:179555514G>T uc003mlq.2 - 4 832 c.535C>A c.(535-537)CCC>ACC p.P179T RASGEF1C_uc003mlr.2_Missense_Mutation_p.P179T|RASGEF1C_uc003mlp.3_Missense_Mutation_p.P28T NM_175062 NP_778232 Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 179 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGGAGATGGGCTTGTCGGCA 0.637 DST 667 broad.mit.edu 37 6 56342227 56342227 + Silent SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr6:56342227G>A uc003pdf.2 - 85 15262 c.15234C>T c.(15232-15234)GGC>GGT p.G5078G DST_uc003pcz.3_Silent_p.G4900G|DST_uc011dxj.1_Silent_p.G4929G|DST_uc011dxk.1_Silent_p.G4940G|DST_uc003pcy.3_Silent_p.G4574G NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6986 Spectrin 20. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAACGGTGTCGCCCATAGTGG 0.458 ME1 4199 broad.mit.edu 37 6 84056002 84056002 + Missense_Mutation SNP A T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr6:84056002A>T uc003pjy.2 - 5 596 c.490T>A c.(490-492)TGT>AGT p.C164S ME1_uc011dzb.1_Missense_Mutation_p.C89S|ME1_uc011dzc.1_5'UTR NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 164 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) ATTCCATTACAGCCAAGGTCT 0.448 SAMD9 54809 broad.mit.edu 37 7 92732691 92732691 + Missense_Mutation SNP C A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:92732691C>A uc003umf.2 - 3 2976 c.2720G>T c.(2719-2721)GGG>GTG p.G907V SAMD9_uc003umg.2_Missense_Mutation_p.G907V NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 907 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) AATATTCTGCCCTTTCAGGAT 0.333 AZGP1 563 broad.mit.edu 37 7 99569575 99569575 + Missense_Mutation SNP A T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:99569575A>T uc003ush.2 - 2 175 c.131T>A c.(130-132)GTC>GAC p.V44D NM_001185 NP_001176 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc 44 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AAACGCGGGGACGTCTTCAAC 0.502 AASS 10157 broad.mit.edu 37 7 121717919 121717920 + Frame_Shift_Ins INS - G G rs147476318 by1000genomes TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:121717919_121717920insG uc003vka.2 - 22 2730_2731 c.2634_2635insC c.(2632-2637)ACCGCCfs p.T878fs AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.1_Frame_Shift_Ins_p.T366fs NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 878_879 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) GCTGCCATGGCGGTGGGTAACC 0.460 IQUB 154865 broad.mit.edu 37 7 123152166 123152166 + Missense_Mutation SNP G T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:123152166G>T uc003vkn.2 - 2 806 c.229C>A c.(229-231)CAA>AAA p.Q77K IQUB_uc003vko.2_Missense_Mutation_p.Q77K|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 77 ovary(3)|large_intestine(1) 4 TCCATGAGTTGTTCATTGTCT 0.413 FAM71F1 84691 broad.mit.edu 37 7 128370003 128370003 + Missense_Mutation SNP C T T rs140953386 byFrequency TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:128370003C>T uc003vno.1 + 6 954 c.901C>T c.(901-903)CGT>TGT p.R301C FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 301 skin(1) 1 CTGTGACCTACGTTGGAGGGC 0.547 HIPK2 28996 broad.mit.edu 37 7 139416741 139416741 + Silent SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:139416741C>T uc003vvf.3 - 2 267 c.93G>A c.(91-93)CTG>CTA p.L31L HIPK2_uc003vvd.3_Silent_p.L31L NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 31 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GCTCTATTTTCAGTTTCTTCA 0.493 CNTNAP2 26047 broad.mit.edu 37 7 146829418 146829418 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr7:146829418C>T uc003weu.1 + 8 1681 c.1165C>T c.(1165-1167)CGG>TGG p.R389W NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 389 Extracellular (Potential). 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 p.R389Q(1) 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) GGTGCCCGGACGGCTTAACCA 0.468 HNSCC(39;0.1) IARS 3376 broad.mit.edu 37 9 95007245 95007246 + Missense_Mutation DNP GC AA AA TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr9:95007245_95007246GC>AA uc004art.1 - 27 3156_3157 c.2899_2900GC>TT c.(2899-2901)GCT>TTT p.A967F IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 967 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) AAATACCTGAGCATCTGAGTGT 0.446 LPAR1 1902 broad.mit.edu 37 9 113703772 113703772 + Missense_Mutation SNP C T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr9:113703772C>T uc004bfa.2 - 4 977 c.722G>A c.(721-723)CGG>CAG p.R241Q LPAR1_uc011lwm.1_Missense_Mutation_p.R242Q|LPAR1_uc004bfb.2_Missense_Mutation_p.R241Q|LPAR1_uc004bfc.2_Missense_Mutation_p.R241Q|LPAR1_uc011lwn.1_Missense_Mutation_p.R223Q|LPAR1_uc011lwo.1_Missense_Mutation_p.R242Q|LPAR1_uc010mub.2_Missense_Mutation_p.R241Q NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 241 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 AGAACTATGCCGAGACATTCT 0.468 SUSD1 64420 broad.mit.edu 37 9 114860875 114860875 + Missense_Mutation SNP G T T TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chr9:114860875G>T uc004bfu.2 - 10 1390 c.1349C>A c.(1348-1350)ACG>AAG p.T450K SUSD1_uc010mui.2_Missense_Mutation_p.T450K|SUSD1_uc010muj.2_Missense_Mutation_p.T450K NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 450 Extracellular (Potential). integral to membrane calcium ion binding 0 TTGTTCCCTCGTTGTGAAGTT 0.443 F9 2158 broad.mit.edu 37 X 138643014 138643014 + Missense_Mutation SNP G A A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chrX:138643014G>A uc004fas.1 + 7 867 c.838G>A c.(838-840)GGT>AGT p.G280S F9_uc004fat.1_Missense_Mutation_p.G242S NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 280 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AGTTGTCGCAGGTAAATACAC 0.343 ATP11C 286410 broad.mit.edu 37 X 138864837 138864837 + Silent SNP A G G TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx deab6efd-8213-4f35-a897-060c605ce58b 882b9e64-c667-4e1a-ad98-67efd518b42b g.chrX:138864837A>G uc004faz.2 - 18 1929 c.1830T>C c.(1828-1830)GAT>GAC p.D610D ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Silent_p.D610D NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 610 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) TTCTTTCATAATCATCTGGAG 0.353