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 CAMTA1 23261 broad.mit.edu 37 1 7725168 7725168 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr1:7725168C>A uc001aoi.2 + 9 2768 c.2561C>A c.(2560-2562)GCC>GAC p.A854D NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 854 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GTGGTCTCGGCCGCCTCGGCC 0.672000 EPHA2 1969 broad.mit.edu 37 1 16460017 16460017 + Missense_Mutation SNP A A C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr1:16460017A>C uc001aya.1 - 10 1960 c.1823T>G c.(1822-1824)ATC>AGC p.I608S NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 608 Mediates interaction with ARHGEF16 and ELMO2.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGATGGATGGATCTCGGTAGT 0.592000 HPCAL4 51440 broad.mit.edu 37 1 40150246 40150246 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr1:40150246G>A uc001cdr.2 - 2 150 c.30C>T c.(28-30)CCC>CCT p.P10P HPCAL4_uc010oix.1_Silent_p.P10P NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN hippocalcin-like protein 4 10 central nervous system development intracellular calcium ion binding p.P10H(1) central_nervous_system(1) 1 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCAGCACCTCGGGGGCCAGCT 0.627000 KCNJ10 3766 broad.mit.edu 37 1 160011396 160011396 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr1:160011396G>A uc001fuw.1 - 2 1077 c.927C>T c.(925-927)TAC>TAT p.Y309Y NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 309 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGTGAACTCGTAGCCCCAAA 0.532000 GLT25D2 23127 broad.mit.edu 37 1 183938600 183938600 + Missense_Mutation SNP T T C rs35937944 byFrequency TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr1:183938600T>C uc001gqr.2 - 5 1007 c.635A>G c.(634-636)TAT>TGT p.Y212C GLT25D2_uc010poj.1_Missense_Mutation_p.Y212C|GLT25D2_uc001gqs.2_Missense_Mutation_p.Y92C NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 212 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 GGTCCTCTTATAGAAGCCCTG 0.463000 CAMSAP1L1 23271 broad.mit.edu 37 1 200818182 200818182 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr1:200818182G>A uc001gvl.2 + 12 2588 c.2318G>A c.(2317-2319)CGT>CAT p.R773H CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R762H|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R746H NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 773 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 GAAAAGAGGCGTGCTATAGAA 0.448000 ANK3 288 broad.mit.edu 37 10 61847969 61847969 + Missense_Mutation SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr10:61847969A>G uc001jky.2 - 29 3668 c.3476T>C c.(3475-3477)GTG>GCG p.V1159A ANK3_uc001jkw.2_Missense_Mutation_p.V293A|ANK3_uc009xpa.2_Missense_Mutation_p.V293A|ANK3_uc001jkx.2_Missense_Mutation_p.V337A|ANK3_uc010qih.1_Missense_Mutation_p.V1160A|ANK3_uc001jkz.3_Missense_Mutation_p.V1153A|ANK3_uc001jla.1_Missense_Mutation_p.V225A|ANK3_uc001jlb.1_Missense_Mutation_p.V677A NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1159 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AACAAGGGGCACTGTGGTGCT 0.478000 TSPAN32 10077 broad.mit.edu 37 11 2334953 2334953 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr11:2334953C>T uc001lvy.1 + 5 561 c.424C>T c.(424-426)CGG>TGG p.R142W TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152W|TSPAN32_uc010qxk.1_Missense_Mutation_p.R177W|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112W|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112W|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87W|TSPAN32_uc001lwd.1_5'Flank NM_139022 NP_620591 Q96QS1 TSN32_HUMAN tumor-suppressing subtransferable candidate 6 142 cell-cell signaling integral to membrane central_nervous_system(1) 1 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GTCCCACGTCCGGCGGCAGGA 0.647000 DLG2 1740 broad.mit.edu 37 11 83252774 83252774 + Missense_Mutation SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr11:83252774T>C uc001paj.2 - 15 2056 c.1753A>G c.(1753-1755)ATG>GTG p.M585V DLG2_uc001pai.2_Missense_Mutation_p.M482V|DLG2_uc010rsy.1_Missense_Mutation_p.M552V|DLG2_uc010rsz.1_Missense_Mutation_p.M585V|DLG2_uc010rta.1_Missense_Mutation_p.M585V|DLG2_uc001pak.2_Missense_Mutation_p.M690V|DLG2_uc010rtb.1_Missense_Mutation_p.M552V|DLG2_uc010rsw.1_Missense_Mutation_p.M67V|DLG2_uc010rsx.1_Missense_Mutation_p.M66V NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 585 SH3. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CCCTCCAGCATGACTCTCCTG 0.478000 ABCC9 10060 broad.mit.edu 37 12 21958215 21958215 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr12:21958215G>C uc001rfi.1 - 38 4563 c.4543C>G c.(4543-4545)CTT>GTT p.L1515V ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.L1479V|ABCC9_uc001rfg.2_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1515 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTAAAACAAGGCCTGCATCC 0.403000 LRRK2 120892 broad.mit.edu 37 12 40618972 40618972 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr12:40618972G>A uc001rmg.3 + 1 160 c.39G>A c.(37-39)GAG>GAA p.E13E NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 13 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AAGAGGACGAGGAAACTCTGA 0.562000 ITGB7 3695 broad.mit.edu 37 12 53585371 53585371 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr12:53585371C>T uc009zmv.2 - 15 2437 c.2366G>A c.(2365-2367)CGC>CAC p.R789H ITGB7_uc001scc.2_Missense_Mutation_p.R789H|ITGB7_uc010snz.1_RNA NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 789 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 CTCTTGAAAGCGAGGATTGAT 0.507000 NOS1 4842 broad.mit.edu 37 12 117768839 117768839 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr12:117768839C>A uc001twm.1 - 2 722 c.36G>T c.(34-36)CAG>CAT p.Q12H NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 12 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGACATTGGGCTGGATTTGCT 0.517000 SFRS8 6433 broad.mit.edu 37 12 132195869 132195869 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr12:132195869G>A uc001uja.1 + 1 235 c.95G>A c.(94-96)CGA>CAA p.R32Q SFRS8_uc010tbn.1_Missense_Mutation_p.R32Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_5'UTR NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 32 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) GGGGGCAGCCGAGTGGAGCTC 0.697000 PABPC3 5042 broad.mit.edu 37 13 25670907 25670907 + Missense_Mutation SNP C C T rs76264750 byFrequency TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr13:25670907C>T uc001upy.2 + 1 632 c.571C>T c.(571-573)CCC>TCC p.P191S NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 191 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAAGAGTTCCCCAATGTTTA 0.428000 MTUS2 23281 broad.mit.edu 37 13 30077317 30077317 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr13:30077317G>A uc001usl.3 + 14 4172 c.4114G>A c.(4114-4116)GCC>ACC p.A1372T MTUS2_uc001usm.3_Missense_Mutation_p.A341T|MTUS2_uc010aau.2_Missense_Mutation_p.A251T|MTUS2_uc010tdq.1_Missense_Mutation_p.A124T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 1362 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CTCCTCTCCGGCCAGAGTCAG 0.652000 CBLN3 643866 broad.mit.edu 37 14 24897156 24897156 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr14:24897156C>G uc001wpg.3 - 3 928 c.457G>C c.(457-459)GCC>CCC p.A153P KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 153 Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q. cell junction|extracellular region|synapse central_nervous_system(1) 1 GBM - Glioblastoma multiforme(265;0.00159) TTGGCAAAGGCTGAGATGACA 0.647000 SIVA1 10572 broad.mit.edu 37 14 105223032 105223032 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr14:105223032C>T uc001yph.2 + 3 474 c.405C>T c.(403-405)TGC>TGT p.C135C INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Silent_p.C135C|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Silent_p.C70C NM_006427 NP_006418 O15304 SIVA_HUMAN CD27-binding (Siva) protein isoform 1 135 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding 0 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) GAGCCCTGTGCGGGCAGTGTG 0.642000 ZSCAN29 146050 broad.mit.edu 37 15 43661186 43661186 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr15:43661186C>A uc001zrk.1 - 2 605 c.458G>T c.(457-459)AGC>ATC p.S153I ZSCAN29_uc001zrj.1_Missense_Mutation_p.S33I|ZSCAN29_uc010bdf.1_Missense_Mutation_p.S152I|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.S152I|ZSCAN29_uc001zrm.2_Missense_Mutation_p.S152I|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 153 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CAGGTCTGGGCTTCTTGCCCT 0.512000 FBN1 2200 broad.mit.edu 37 15 48741086 48741086 + Silent SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr15:48741086A>G uc001zwx.1 - 46 5878 c.5550T>C c.(5548-5550)CGT>CGC p.R1850R FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1850 EGF-like 31; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GACATTCATTACGATCTGTAA 0.353000 OTOA 146183 broad.mit.edu 37 16 21698948 21698948 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr16:21698948G>A uc002djh.2 + 7 615 c.614G>A c.(613-615)CGC>CAC p.R205H uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R126H NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 205 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CGGGACCTGCGCGAGGATGCC 0.423000 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH4 4622 broad.mit.edu 37 17 10368834 10368834 + Nonsense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr17:10368834G>A uc002gmn.2 - 5 541 c.430C>T c.(430-432)CGA>TGA p.R144* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 144 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTTTTGCCTCGGTAGGCTGTC 0.537000 WNK4 65266 broad.mit.edu 37 17 40936102 40936102 + Silent SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr17:40936102T>C uc002ibj.2 + 3 960 c.939T>C c.(937-939)CCT>CCC p.P313P WNK4_uc010wgx.1_Missense_Mutation_p.L7P|WNK4_uc002ibk.1_Silent_p.P85P|WNK4_uc010wgy.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 313 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TCACGGGACCTACTGGCTCTG 0.602000 KIF2B 84643 broad.mit.edu 37 17 51901905 51901905 + Missense_Mutation SNP G G A rs143245314 byFrequency TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr17:51901905G>A uc002iua.2 + 1 1667 c.1511G>A c.(1510-1512)CGG>CAG p.R504Q uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 504 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CTGGTGCTCCGGGACTCCTTT 0.473000 LAMA3 3909 broad.mit.edu 37 18 21399825 21399825 + Missense_Mutation SNP T T A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr18:21399825T>A uc002kuq.2 + 19 2254 c.2168T>A c.(2167-2169)TTC>TAC p.F723Y LAMA3_uc002kur.2_Missense_Mutation_p.F723Y NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 723 Domain V.|Laminin EGF-like 8. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACTACTATTTCCCAGATTTG 0.378000 KIAA1632 57724 broad.mit.edu 37 18 43490580 43490580 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr18:43490580G>A uc002lbm.2 - 23 4211 c.4111C>T c.(4111-4113)CGT>TGT p.R1371C KIAA1632_uc002lbo.1_Missense_Mutation_p.R1371C|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R246C NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1371 autophagy 0 GCTGGAACACGGAGGGCCTTG 0.522000 OREG0024952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF556 80032 broad.mit.edu 37 19 2877321 2877321 + Missense_Mutation SNP G G T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr19:2877321G>T uc002lwp.1 + 4 452 c.365G>T c.(364-366)CGT>CTT p.R122L ZNF556_uc002lwq.2_Missense_Mutation_p.R121L NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTAATAAACGTGGAAGAACC 0.373000 KDM4B 23030 broad.mit.edu 37 19 5033012 5033012 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr19:5033012G>A uc002mbq.3 + 3 337 c.111G>A c.(109-111)TCG>TCA p.S37S KDM4B_uc010xil.1_Silent_p.S37S|KDM4B_uc010xim.1_Silent_p.S37S NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 37 JmjN. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 ACATAGAGTCGCAGGGAGCCC 0.622000 UNC13A 23025 broad.mit.edu 37 19 17756598 17756598 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr19:17756598G>A uc002nhd.2 - 19 2505 c.2505C>T c.(2503-2505)GAC>GAT p.D835D NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 747 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 ATTTGATGTCGTCATCCTCGT 0.592000 TSHZ3 57616 broad.mit.edu 37 19 31767753 31767753 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr19:31767753C>T uc002nsy.3 - 2 3011 c.2946G>A c.(2944-2946)GCG>GCA p.A982A NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 982 C2H2-type 4. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGATTTGGGACGCACAATCGT 0.498000 LILRA2 11027 broad.mit.edu 37 19 55086958 55086958 + Silent SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr19:55086958T>C uc002qgg.3 + 5 980 c.891T>C c.(889-891)AGT>AGC p.S297S LILRA2_uc010ern.2_Silent_p.S297S|LILRA2_uc002qgf.2_Silent_p.S297S|LILRA2_uc010yfe.1_Silent_p.S297S|LILRA2_uc010yff.1_Silent_p.S285S|LILRA2_uc010ero.2_Silent_p.S285S|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 297 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GATGCTACAGTGCACACAACC 0.667000 EHD3 30845 broad.mit.edu 37 2 31489161 31489161 + Missense_Mutation SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr2:31489161A>G uc002rnu.2 + 6 1807 c.1199A>G c.(1198-1200)GAG>GGG p.E400G EHD3_uc010ymt.1_3'UTR NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 400 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) GTGCGCCAGGAGGAGTCACAG 0.622000 LRRTM4 80059 broad.mit.edu 37 2 77746894 77746894 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr2:77746894C>G uc002snr.2 - 3 516 c.101G>C c.(100-102)TGC>TCC p.C34S LRRTM4_uc002snq.2_Missense_Mutation_p.C34S|LRRTM4_uc002sns.2_Missense_Mutation_p.C34S|LRRTM4_uc002snt.2_Missense_Mutation_p.C35S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 34 Extracellular (Potential).|LRRNT. integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GTTCTTTGGGCAAGCTCTCTG 0.473000 MARCH4 57574 broad.mit.edu 37 2 217142429 217142429 + Silent SNP G G A rs138565372 by1000genomes TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr2:217142429G>A uc002vgb.2 - 3 2598 c.831C>T c.(829-831)TAC>TAT p.Y277Y NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 277 Helical; (Potential). Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) CATACATCCCGTAGCAGATCT 0.557000 KIF1A 547 broad.mit.edu 37 2 241709052 241709052 + Silent SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr2:241709052C>A uc002vzy.2 - 15 1532 c.1386G>T c.(1384-1386)CGG>CGT p.R462R KIF1A_uc010fzk.2_Silent_p.R471R|KIF1A_uc002vzz.1_Silent_p.R471R NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 462 Potential. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACCTCTCCATCCGGATGGCTT 0.622000 APP 351 broad.mit.edu 37 21 27425588 27425588 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr21:27425588G>A uc002ylz.2 - 4 632 c.432C>T c.(430-432)TGC>TGT p.C144C APP_uc010glk.2_Silent_p.C139C|APP_uc002yma.2_Silent_p.C144C|APP_uc011ach.1_Silent_p.C88C|APP_uc002ymb.2_Silent_p.C144C|APP_uc010glj.2_Silent_p.C88C|APP_uc011aci.1_Silent_p.C109C|APP_uc011acj.1_Silent_p.C144C NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 144 Extracellular (Potential). Required for Cu(2+) reduction. C->S: Binds copper. No dimer formation. No copper reducing activity. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) GATGAGTTTCGCAAACATCCA 0.453000 KRTAP26-1 388818 broad.mit.edu 37 21 31691973 31691973 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr21:31691973C>T uc002ynw.2 - 1 635 c.381G>A c.(379-381)CCG>CCA p.P127P NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 127 intermediate filament ovary(1) 1 TATTGAGCAGCGGCCTCAGTG 0.532000 MICAL3 57553 broad.mit.edu 37 22 18347703 18347703 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr22:18347703C>T uc002zng.3 - 19 2920 c.2567G>A c.(2566-2568)CGG>CAG p.R856Q MICAL3_uc011agl.1_Missense_Mutation_p.R856Q|MICAL3_uc002znh.2_Missense_Mutation_p.R856Q|MICAL3_uc002znj.1_Missense_Mutation_p.R584Q|MICAL3_uc002znk.1_Missense_Mutation_p.R856Q|MICAL3_uc002znl.1_Missense_Mutation_p.R489Q|MICAL3_uc002znm.2_Missense_Mutation_p.R357Q|MICAL3_uc010grf.2_Missense_Mutation_p.R980Q NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 856 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) GGCGTTGGCCCGTCCGTTTGC 0.582000 HIRA 7290 broad.mit.edu 37 22 19341023 19341023 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr22:19341023G>C uc002zpf.1 - 23 2924 c.2704C>G c.(2704-2706)CGG>GGG p.R902G HIRA_uc011agx.1_Missense_Mutation_p.R768G|HIRA_uc010grn.1_Missense_Mutation_p.R695G|HIRA_uc010gro.1_Missense_Mutation_p.R858G|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 902 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GAGAAGAGCCGGGCAGCCTGC 0.612000 COL7A1 1294 broad.mit.edu 37 3 48630223 48630223 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr3:48630223C>T uc003ctz.2 - 6 832 c.831G>A c.(829-831)CCG>CCA p.P277P NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 277 Nonhelical region (NC1).|Fibronectin type-III 1. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCGCTCACTCGGCAGTGGCT 0.607000 WDR6 11180 broad.mit.edu 37 3 49049728 49049728 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr3:49049728G>A uc003cvj.2 + 2 989 c.851G>A c.(850-852)TGC>TAC p.C284Y WDR6_uc011bbx.1_Missense_Mutation_p.C155Y|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.C228Y|WDR6_uc011bbz.1_Missense_Mutation_p.C203Y NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 254 cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) ATTGGGCACTGCTTTGGGCAC 0.557000 GRM2 2912 broad.mit.edu 37 3 51747088 51747088 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr3:51747088G>C uc010hlv.2 + 3 1289 c.1050G>C c.(1048-1050)GAG>GAC p.E350D GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 350 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AATTCTGGGAGCAGAGGTTCC 0.592000 SPON2 10417 broad.mit.edu 37 4 1164196 1164196 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr4:1164196C>T uc003gcn.3 - 4 832 c.805G>A c.(805-807)GCC>ACC p.A269T SPON2_uc003gco.3_Missense_Mutation_p.A269T|SPON2_uc010ibr.2_Missense_Mutation_p.A269T|SPON2_uc003gcm.1_3'UTR NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 269 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) TTACCTGAGGCGCTGTCTACA 0.617000 WDFY3 23001 broad.mit.edu 37 4 85617299 85617299 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr4:85617299C>T uc003hpd.2 - 58 9133 c.8725G>A c.(8725-8727)GAG>AAG p.E2909K WDFY3_uc003hpe.1_Missense_Mutation_p.E520K NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2909 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCAATCCACTCATGTAGATGG 0.403000 SEC24B 10427 broad.mit.edu 37 4 110460756 110460756 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr4:110460756G>A uc003hzk.2 + 24 3787 c.3732G>A c.(3730-3732)TTG>TTA p.L1244L SEC24B_uc003hzl.2_Silent_p.L1209L|SEC24B_uc011cfp.1_Silent_p.L1274L|SEC24B_uc011cfq.1_Silent_p.L1243L|SEC24B_uc011cfr.1_Silent_p.L1208L NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1244 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTCAGCATTTGATTGAAGACC 0.308000 TTC29 83894 broad.mit.edu 37 4 147755035 147755035 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr4:147755035G>A uc003ikw.3 - 9 1127 c.900C>T c.(898-900)TAC>TAT p.Y300Y TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.Y326Y|TTC29_uc010ipd.1_Silent_p.Y300Y NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 300 TPR 3. binding 0 all_hematologic(180;0.151) AGATTTTACAGTAAGTGTCAA 0.393000 PLEKHG4B 153478 broad.mit.edu 37 5 140749 140749 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr5:140749G>A uc003jak.2 + 1 377 c.327G>A c.(325-327)AGG>AGA p.R109R NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 109 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CAGGCTCCAGGCCTGGGGGCC 0.647000 ADAMTS16 170690 broad.mit.edu 37 5 5237184 5237184 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr5:5237184G>A uc003jdl.2 + 14 2264 c.2126G>A c.(2125-2127)CGT>CAT p.R709H ADAMTS16_uc003jdk.1_Missense_Mutation_p.R709H|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 709 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GAGGATAGCCGTAATGTTTGT 0.279000 AMACR 23600 broad.mit.edu 37 5 33989517 33989517 + Missense_Mutation SNP T T G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr5:33989517T>G uc003jig.2 - 5 912 c.830A>C c.(829-831)GAG>GCG p.E277A AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.E262A|AMACR_uc003jij.2_Missense_Mutation_p.E277A NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 277 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 CTTCGTCTTCTCTGCAAATAC 0.443000 PCDHA9 9752 broad.mit.edu 37 5 140229393 140229393 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr5:140229393C>T uc003lhu.2 + 1 2037 c.1313C>T c.(1312-1314)ACG>ATG p.T438M 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_uc003lht.1_Missense_Mutation_p.T438M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 438 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTGGGCCACGGCCAGGGTG 0.657000 PCDHGA9 56107 broad.mit.edu 37 5 140782934 140782934 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr5:140782934G>A uc003lkh.1 + 1 415 c.415G>A c.(415-417)GAA>AAA p.E139K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.E139K NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 139 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAAGTCTGGAAGTAAAAAT 0.458000 PCDHGA9 56107 broad.mit.edu 37 5 140782949 140782949 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr5:140782949G>A uc003lkh.1 + 1 430 c.430G>A c.(430-432)GAA>AAA p.E144K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.E144K NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 144 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAATTAACGAAATCGCGGT 0.473000 C6orf127 340204 broad.mit.edu 37 6 35754860 35754860 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr6:35754860C>T uc003old.3 + 2 242 c.185C>T c.(184-186)GCG>GTG p.A62V NM_001010886 NP_001010886 A2RUU4 CF127_HUMAN hypothetical protein LOC340204 precursor 62 digestion|lipid catabolic process extracellular region enzyme activator activity skin(1) 1 TCGCACTGCGCGGAGAAGGGG 0.662000 PTPRK 5796 broad.mit.edu 37 6 128643430 128643430 + Silent SNP T T G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr6:128643430T>G uc003qbk.2 - 3 616 c.249A>C c.(247-249)TCA>TCC p.S83S PTPRK_uc003qbj.2_Silent_p.S83S|PTPRK_uc010kfc.2_Silent_p.S83S|PTPRK_uc011ebu.1_Silent_p.S83S|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Silent_p.S83S|PTPRK_uc003qbm.3_Silent_p.S12S NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 83 Extracellular (Potential).|MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GGTCGTGATCTGAAGAGTCCA 0.358000 SDK1 221935 broad.mit.edu 37 7 4188947 4188947 + Missense_Mutation SNP C C T rs146602325 TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr7:4188947C>T uc003smx.2 + 30 4616 c.4477C>T c.(4477-4479)CGC>TGC p.R1493C SDK1_uc010kso.2_Missense_Mutation_p.R769C|SDK1_uc003smy.2_Translation_Start_Site NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1493 Fibronectin type-III 9. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGTGACCGCACGCAGCCTCCG 0.677000 AHR 196 broad.mit.edu 37 7 17379566 17379566 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr7:17379566C>T uc011jxz.1 + 10 2730 c.2117C>T c.(2116-2118)CCT>CTT p.P706L AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 706 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) TGTAATCAGCCTGTATTACCA 0.398000 HDAC9 9734 broad.mit.edu 37 7 18705931 18705931 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr7:18705931C>T uc003suh.2 + 11 1595 c.1554C>T c.(1552-1554)GAC>GAT p.D518D HDAC9_uc003sue.2_Silent_p.D518D|HDAC9_uc011jyd.1_Silent_p.D518D|HDAC9_uc003sui.2_Silent_p.D521D|HDAC9_uc003suj.2_Silent_p.D477D|HDAC9_uc011jya.1_Silent_p.D515D|HDAC9_uc003sua.1_Silent_p.D496D|HDAC9_uc011jyb.1_Silent_p.D474D|HDAC9_uc003sud.1_Silent_p.D518D|HDAC9_uc011jyc.1_Silent_p.D477D|HDAC9_uc003suf.1_Silent_p.D549D|HDAC9_uc010kud.1_Silent_p.D521D|HDAC9_uc011jye.1_Silent_p.D490D|HDAC9_uc011jyf.1_Silent_p.D441D|HDAC9_uc010kue.1_Intron NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 518 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGCAGGAAGACAGAGCGCCCT 0.542000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) WRN 7486 broad.mit.edu 37 8 30977918 30977918 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr8:30977918C>T uc003xio.3 + 21 3396 c.2608C>T c.(2608-2610)CCT>TCT p.P870S WRN_uc010lvk.2_Missense_Mutation_p.P337S NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 870 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CCTCTGGGCTCCTGCAGACAT 0.373000 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome FUT10 84750 broad.mit.edu 37 8 33230241 33230241 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr8:33230241G>A uc003xje.2 - 5 1650 c.1294C>T c.(1294-1296)CGG>TGG p.R432W FUT10_uc003xjc.2_Missense_Mutation_p.R439W|FUT10_uc003xjd.2_Missense_Mutation_p.R404W|FUT10_uc011lbi.1_Missense_Mutation_p.R482W NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 432 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GGTGGAGTCCGGAGTGGTGAG 0.507000 DEPDC6 64798 broad.mit.edu 37 8 120942125 120942125 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr8:120942125C>G uc003yow.3 + 3 559 c.372C>G c.(370-372)TTC>TTG p.F124L DEPDC6_uc011lid.1_Intron NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 124 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACGGCACCTTCCCATTGGATA 0.408000 FAM47B 170062 broad.mit.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chrX:34962140C>T uc004ddi.1 + 1 1210 c.1192C>T c.(1192-1194)CGC>TGC p.R398C NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 398 ovary(3)|breast(1) 4 GCCCCATCTCCGCCTGGTGCT 0.582000 SHROOM4 57477 broad.mit.edu 37 X 50376816 50376816 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chrX:50376816C>T uc004dpe.2 - 4 2283 c.2257G>A c.(2257-2259)GAA>AAA p.E753K SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.E637K NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 753 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GCCTTCAATTCCTTGTTGTCA 0.498000 TRMT2B 79979 broad.mit.edu 37 X 100274308 100274308 + Missense_Mutation SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chrX:100274308A>G uc004egq.2 - 11 1552 c.1253T>C c.(1252-1254)ATT>ACT p.I418T TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.I418T|TRMT2B_uc004egs.2_Missense_Mutation_p.I418T|TRMT2B_uc004egt.2_Missense_Mutation_p.I418T|TRMT2B_uc004egu.2_Missense_Mutation_p.I299T|TRMT2B_uc004egv.2_Missense_Mutation_p.I373T NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 418 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 CACAGCAACAATTGACTGTCC 0.468000 F9 2158 broad.mit.edu 37 X 138633424 138633424 + Splice_Site SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chrX:138633424G>A uc004fas.1 + 6 752 c.723_splice c.e6+1 p.Q241_splice F9_uc004fat.1_Splice_Site_p.Q203_splice NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 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) CCCTTGGCAGGTACTTTATAC 0.458000 CENPC1 1060 broad.mit.edu 37 4 68383923 68383923 + Frame_Shift_Del DEL T T - TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr4:68383923delT uc003hdd.1 - 7 964 c.781delA c.(781-783)AGTfs p.S261fs CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Frame_Shift_Del_p.S261fs NM_001812 NP_001803 Q03188 CENPC_HUMAN centromere protein C 1 261 Nuclear localization signal (Potential). mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding urinary_tract(1)|lung(1) 2 GTTGAAAAACTTTTTTTAGCT 0.313 CHRNA6 8973 broad.mit.edu 37 8 42611731 42611732 + Frame_Shift_Del DEL CT CT - TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr8:42611730_42611731ACT>A uc003xpj.3 - 4 967_968 c.611_612AGT>T c.(610-612)agtfs p.S204fs CHRNA6_uc011lcw.2_Frame_Shift_Del_p.S189fs NM_004198 NP_004189 Q15825 ACHA6_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA. 204 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTTCCCATTCACTGTTTTCCCA 0.342 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 F8 2157 broad.mit.edu 37 X 154157240 154157241 + Frame_Shift_Ins INS - - T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d g.chrX:154157239_154157240G>GT uc004fmt.3 - 13 4996_4997 c.4825_4826C>AC c.(4825-4827)acafs p.T1609fs NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1609 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTTAAAAGCTGTTTTTTCTGGT 0.406