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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF345 25850 broad.mit.edu 37 19 37367985 37367985 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:37367985A>G ENST00000529555.1 + 2 1041 c.253A>G c.(253-255)Act>Gct p.T85A ZNF345_ENST00000420450.1_Missense_Mutation_p.T85A|ZNF345_ENST00000589046.1_Missense_Mutation_p.T85A|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 85 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCGAATTCATACTGGTGAGAA 0.403000 6 38 0 0 0.001168 0 0 F5 2153 broad.mit.edu 37 1 169511663 169511663 + Nonsense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:169511663T>A ENST00000367796.3 - 13 2881 c.2680A>T c.(2680-2682)Aaa>Taa p.K894* F5_ENST00000367797.3_Nonsense_Mutation_p.K889* P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 889 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTCCCAACTTTATGTGCTAGT 0.473000 32 133 0 0 0.001786 0 0 DMD 1756 broad.mit.edu 37 X 31496480 31496480 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:31496480C>G ENST00000357033.4 - 59 8886 c.8680G>C c.(8680-8682)Gag>Cag p.E2894Q DMD_ENST00000378707.3_Missense_Mutation_p.E434Q|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.E434Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2890Q|DMD_ENST00000359836.1_Missense_Mutation_p.E434Q|DMD_ENST00000541735.1_Missense_Mutation_p.E434Q|DMD_ENST00000474231.1_Missense_Mutation_p.E434Q NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2894 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCTCTCTCCTCAGGAGGCAGC 0.443000 17 83 0 0 0.000958 0 0 SRFBP1 153443 broad.mit.edu 37 5 121355833 121355833 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:121355833T>A ENST00000339397.4 + 6 475 c.403T>A c.(403-405)Tca>Aca p.S135T NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TGAAGTTGAGTCATCAAAGAA 0.368000 12 31 0 0 0.001855 0 0 LHFP 10186 broad.mit.edu 37 13 39952599 39952599 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:39952599C>G ENST00000379589.3 - 3 912 c.450G>C c.(448-450)caG>caC p.Q150H NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 150 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) AGCCACAAGTCTGCCGGACTT 0.493000 T HMGA2 lipoma 16 51 0 0 0.003163 0 0 SYPL2 284612 broad.mit.edu 37 1 110020605 110020605 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:110020605T>A ENST00000369872.3 + 5 838 c.622T>A c.(622-624)Tct>Act p.S208T SYPL2_ENST00000401021.3_Intron NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 208 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GGCCACGCCCTCTATGGGCCT 0.637000 9 29 0 0 0.000443 0 0 PRRC2B 84726 broad.mit.edu 37 9 134308156 134308156 + Nonsense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:134308156A>T ENST00000357304.4 + 2 323 c.268A>T c.(268-270)Aag>Tag p.K90* PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.K90*|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.K90* NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 90 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 ATGGGCAAACAAGCAGGATCA 0.577000 7 50 0 0 0.001984 0 0 TLL1 7092 broad.mit.edu 37 4 166795090 166795090 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:166795090G>A ENST00000061240.2 + 1 681 c.34G>A c.(34-36)Gtg>Atg p.V12M TLL1_ENST00000507499.1_Missense_Mutation_p.V12M|TLL1_ENST00000513213.1_Missense_Mutation_p.V12M NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 12 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GAGGATGCTCGTGTGGCTGGT 0.592000 8 120 0 0 0.004482 0 0 OR8B2 26595 broad.mit.edu 37 11 124252330 124252330 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:124252330G>A ENST00000375013.2 - 1 928 c.910C>T c.(910-912)Ctg>Ttg p.L304L NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATTTTAATCAGAGCTTTCCTC 0.338000 16 37 0 0 0.004007 0 0 ACOT11 26027 broad.mit.edu 37 1 55059688 55059688 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:55059688C>T ENST00000371316.3 + 5 529 c.447C>T c.(445-447)ttC>ttT p.F149F ACOT11_ENST00000343744.2_Silent_p.F149F|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 149 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 TGGCCACCTTCGTGGCCCGCC 0.632000 8 49 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158595971 158595971 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:158595971C>A ENST00000368148.3 - 42 6055 c.5875G>T c.(5875-5877)Gac>Tac p.D1959Y SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.D1956Y NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1959 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D1959H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCACCAAGGTCTGCACCATTG 0.423000 8 34 1.12685e-05 2.36484e-05 0.004482 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 56 0 0 0.000673 0 0 TAF1L 138474 broad.mit.edu 37 9 32631662 32631662 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:32631662C>T ENST00000242310.4 - 1 4005 c.3916G>A c.(3916-3918)Gtg>Atg p.V1306M NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1306 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GAAGGTGGCACATTTGTTTGA 0.428000 91 134 0 0 0.003610 0 0 DOCK2 1794 broad.mit.edu 37 5 169484632 169484632 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:169484632G>C ENST00000256935.8 + 44 4509 c.4429G>C c.(4429-4431)Ggg>Cgg p.G1477R DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.G969R|DOCK2_ENST00000540750.1_Missense_Mutation_p.G538R NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1477 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAAGCTGCCGGGGATCCTGCG 0.582000 12 43 0 0 0.001368 0 0 ZNF98 148198 broad.mit.edu 37 19 22575547 22575547 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:22575547G>A ENST00000357774.5 - 4 611 c.490C>T c.(490-492)Cat>Tat p.H164Y NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GAAAATTTATGAAAGACTTTC 0.313000 3 7 0 0 0.004672 0 0 FLG 2312 broad.mit.edu 37 1 152283044 152283044 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:152283044A>G ENST00000368799.1 - 3 4353 c.4318T>C c.(4318-4320)Tct>Cct p.S1440P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1440 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGAGGAAAGACCTTGAACGT 0.587000 Ichthyosis 15 273 0 0 0.002450 0 0 ZNF521 25925 broad.mit.edu 37 18 22806305 22806305 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:22806305G>C ENST00000361524.3 - 4 1725 c.1577C>G c.(1576-1578)tCt>tGt p.S526C ZNF521_ENST00000584787.1_Missense_Mutation_p.S306C|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526C NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 526 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTCCAGGGAAGAGTCAGTGAG 0.468000 T PAX5 ALL 7 70 0 0 0.001984 0 0 CLEC16A 23274 broad.mit.edu 37 16 11071128 11071128 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:11071128G>C ENST00000409790.1 + 8 1005 c.775G>C c.(775-777)Gac>Cac p.D259H CLEC16A_ENST00000409552.3_Missense_Mutation_p.D257H NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 259 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGAGCACCTAGACCACCTGCA 0.537000 11 69 0 0 0.000978 0 0 GUCA1A 2978 broad.mit.edu 37 6 42146620 42146620 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:42146620C>T ENST00000394237.1 + 5 1408 c.432C>T c.(430-432)gaC>gaT p.D144D GUCA1A_ENST00000053469.4_Silent_p.D144D|GUCA1A_ENST00000372958.1_Silent_p.D144D|GUCA1A_ENST00000541991.1_Silent_p.D144D P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 144 EF-hand 4. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAAGATTGACGTCAACGGGG 0.607000 28 70 0 0 0.001061 0 0 CNTN3 5067 broad.mit.edu 37 3 74411068 74411068 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:74411068C>T ENST00000263665.6 - 10 1364 c.1337G>A c.(1336-1338)gGg>gAg p.G446E NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 446 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GCTCACATCCCCCTTCTTCCA 0.473000 12 35 0 0 0.000978 0 0 DCAF8 50717 broad.mit.edu 37 1 160209906 160209906 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:160209906C>G ENST00000368073.3 - 4 738 c.304G>C c.(304-306)Gag>Cag p.E102Q DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.E102Q|DCAF8_ENST00000556710.1_Missense_Mutation_p.E256Q|DCAF8_ENST00000326837.2_Missense_Mutation_p.E102Q Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 102 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 tcctcttcctcttcctctGAG 0.537000 3 28 0 0 0.004672 0 0 CPB1 1360 broad.mit.edu 37 3 148562481 148562481 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:148562481G>T ENST00000491148.1 + 9 1039 c.705G>T c.(703-705)aaG>aaT p.K235N CPB1_ENST00000282957.4_Missense_Mutation_p.K235N P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 235 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTGGAGAAAGACTCGCTCCA 0.438000 14 101 9.05144e-12 2.11384e-11 0.001855 1 0 ABLIM1 3983 broad.mit.edu 37 10 116444079 116444079 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:116444079C>A ENST00000369252.4 - 1 335 c.34G>T c.(34-36)Gac>Tac p.D12Y ABLIM1_ENST00000533213.2_Missense_Mutation_p.D12Y NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 0 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TGATGAGGGTCCGTGAGCTCA 0.468000 12 62 3.27435e-08 7.16615e-08 0.002450 1 0 ADAM33 80332 broad.mit.edu 37 20 3655732 3655732 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:3655732T>A ENST00000356518.2 - 4 516 c.275A>T c.(274-276)tAc>tTc p.Y92F ADAM33_ENST00000350009.2_Missense_Mutation_p.Y92F|ADAM33_ENST00000379861.4_Missense_Mutation_p.Y92F NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 92 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GGTTTCTATGTATCCTGGGGC 0.602000 21 52 0 0 0.002299 0 0 OR2A14 135941 broad.mit.edu 37 7 143826781 143826781 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:143826781G>C ENST00000408899.2 + 1 631 c.576G>C c.(574-576)tgG>tgC p.W192C NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CTGACACCTGGCTCAACCAGG 0.562000 48 240 0 0 0.003610 0 0 ZNF841 284371 broad.mit.edu 37 19 52570837 52570837 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:52570837C>T ENST00000389534.4 - 7 757 c.298G>A c.(298-300)Gaa>Aaa p.E100K ZNF841_ENST00000594295.1_Missense_Mutation_p.E100K|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_5'UTR NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GGTGGTAATTCCTTGATCACA 0.323000 4 28 0 0 0.000602 0 0 TTC13 79573 broad.mit.edu 37 1 231076226 231076226 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:231076226C>A ENST00000366661.4 - 7 756 c.749G>T c.(748-750)cGg>cTg p.R250L TTC13_ENST00000414259.1_Missense_Mutation_p.R197L|TTC13_ENST00000366662.4_Missense_Mutation_p.R197L NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 250 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCTGTACAGCCGTGCTGAGGG 0.423000 7 35 0.00198382 0.00390644 0.001984 1 0 PLCZ1 89869 broad.mit.edu 37 12 18854534 18854534 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:18854534G>C ENST00000538330.1 - 5 645 c.264C>G c.(262-264)ttC>ttG p.F88L PLCZ1_ENST00000541695.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Intron Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 317 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CTGATTCTTTGAATTTAtcct 0.448000 6 30 0 0 0.001168 0 0 FREM2 341640 broad.mit.edu 37 13 39425083 39425083 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:39425083G>C ENST00000280481.7 + 10 6796 c.6580G>C c.(6580-6582)Gag>Cag p.E2194Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2194 Calx-beta 4. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGTTCCAGGTGAGACAGAAAA 0.478000 11 49 0 0 0.001855 0 0 ABCA1 19 broad.mit.edu 37 9 107618116 107618116 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:107618116C>G ENST00000423487.2 - 8 1270 c.974G>C c.(973-975)tGg>tCg p.W325S ABCA1_ENST00000374736.3_Intron O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 0 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAGAGCACCCAGATTCTGAA 0.458000 6 20 0 0 0.001168 0 0 COL5A1 1289 broad.mit.edu 37 9 137716625 137716625 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:137716625A>T ENST00000371817.3 + 62 5292 c.4878A>T c.(4876-4878)aaA>aaT p.K1626N NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1626 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCAGATGAAACGGCCCCTGG 0.632000 10 31 0 0 0.000673 0 0 FEM1A 55527 broad.mit.edu 37 19 4792971 4792971 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:4792971G>A ENST00000269856.3 + 1 1244 c.1105G>A c.(1105-1107)Gag>Aag p.E369K AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 369 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CGACCCGGATGAGATGCGCAT 0.632000 16 61 0 0 0.003163 0 0 ARX 170302 broad.mit.edu 37 X 25033720 25033720 + Silent SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:25033720T>A ENST00000379044.4 - 1 345 c.135A>T c.(133-135)ggA>ggT p.G45G NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 45 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 TCTGCGCGGCTCCCAGCAACC 0.607000 5 24 0 0 0.001168 0 0 MYADM 91663 broad.mit.edu 37 19 54377171 54377171 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:54377171C>A ENST00000391769.2 + 3 668 c.388C>A c.(388-390)Cac>Aac p.H130N MYADM_ENST00000391768.2_Missense_Mutation_p.H130N|MYADM_ENST00000391770.4_Missense_Mutation_p.H130N|MYADM_ENST00000391771.1_Missense_Mutation_p.H130N|MYADM_ENST00000336967.3_Missense_Mutation_p.H130N NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 130 MARVEL 1. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GTTCCTGTCCCACGGCCGTTC 0.662000 20 98 7.45023e-12 1.74522e-11 0.001523 1 0 ADARB1 104 broad.mit.edu 37 21 46596174 46596174 + Silent SNP G G A rs146135960 byFrequency TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr21:46596174G>A ENST00000539173.1 + 4 993 c.558G>A c.(556-558)gcG>gcA p.A186A ADARB1_ENST00000360697.3_Silent_p.A186A|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Silent_p.A186A|ADARB1_ENST00000348831.4_Silent_p.A186A NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 186 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CTGACAAGGCGGAGCCTCCCT 0.592000 6 26 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9068476 9068476 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:9068476C>T ENST00000397910.4 - 3 19173 c.18970G>A c.(18970-18972)Gac>Aac p.D6324N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6326 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTATATGGGTCTGAGTCAGGT 0.443000 9 79 0 0 0.000443 0 0 P2RX3 5024 broad.mit.edu 37 11 57118259 57118259 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:57118259C>T ENST00000263314.2 + 8 763 c.729C>T c.(727-729)atC>atT p.I243I NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 243 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity p.I243I(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GCATTAAGATCGGCTGGGTGT 0.622000 4 26 0 0 0.000248 0 0 GRID2 2895 broad.mit.edu 37 4 94693335 94693335 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:94693335C>G ENST00000282020.4 + 16 2968 c.2710C>G c.(2710-2712)Cct>Gct p.P904A GRID2_ENST00000510992.1_Missense_Mutation_p.P809A NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 904 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGATTTGACCCCTCTGGACAT 0.458000 5 80 0 0 0.001168 0 0 LINGO2 158038 broad.mit.edu 37 9 27950478 27950478 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:27950478G>A ENST00000379992.2 - 6 641 c.192C>T c.(190-192)ctC>ctT p.L64L LINGO2_ENST00000308675.3_Silent_p.L64L NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 64 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TGTTTTTACTGAGGTCCAAGA 0.458000 72 94 0 0 0.003610 0 0 UGCG 7357 broad.mit.edu 37 9 114676936 114676936 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:114676936C>T ENST00000374279.3 + 2 600 c.150C>T c.(148-150)ctC>ctT p.L50L UGCG_ENST00000495085.1_3'UTR NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 50 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) ATAGCAAGCTCCCAGGTGTCT 0.368000 13 52 0 0 0.003163 0 0 KAT6A 7994 broad.mit.edu 37 8 41791507 41791507 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:41791507C>G ENST00000396930.3 - 18 4774 c.4231G>C c.(4231-4233)Gag>Cag p.E1411Q KAT6A_ENST00000265713.2_Missense_Mutation_p.E1411Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.E1411Q NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1411 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCTTCCTCCTCTTTTAATTCG 0.507000 20 72 0 0 0.000958 0 0 COL28A1 340267 broad.mit.edu 37 7 7412695 7412695 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:7412695C>G ENST00000399429.3 - 32 2982 c.2842G>C c.(2842-2844)Gaa>Caa p.E948Q NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 948 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGATTCATTTCTTTGTGGAAT 0.428000 8 39 0 0 0.004482 0 0 RILPL1 353116 broad.mit.edu 37 12 124008157 124008157 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:124008157C>T ENST00000376874.4 - 2 580 c.345G>A c.(343-345)gaG>gaA p.E115E NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 115 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) GGTCCTGCGCCTCCCCTCGCC 0.627000 10 31 0 0 0.000443 0 0 TAF1L 138474 broad.mit.edu 37 9 32633519 32633519 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:32633519G>A ENST00000242310.4 - 1 2148 c.2059C>T c.(2059-2061)Cct>Tct p.P687S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 687 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGATCCTGAGGTGTGCGCATA 0.433000 6 117 0 0 0.001168 0 0 USP8 9101 broad.mit.edu 37 15 50786338 50786338 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:50786338G>A ENST00000433963.1 + 17 3019 c.2519G>A c.(2518-2520)gGa>gAa p.G840E USP8_ENST00000307179.4_Missense_Mutation_p.G840E|USP8_ENST00000425032.3_Missense_Mutation_p.G734E|USP8_ENST00000396444.3_Missense_Mutation_p.G840E|RP11-562A8.5_ENST00000560159.1_lincRNA NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 840 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTGTGGACAGGACAGTATAGA 0.383000 19 87 0 0 0.006122 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 13 36 0 0 0.001855 0 0 RPL3L 6123 broad.mit.edu 37 16 1996719 1996719 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:1996719G>C ENST00000268661.7 - 7 952 c.858C>G c.(856-858)cgC>cgG p.R286R NM_005061.2 NP_005052.1 Q92901 RL3L_HUMAN ribosomal protein L3-like 286 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 17 CCCTGCCGATGCGGAAGATCT 0.632000 8 28 0 0 0.004482 0 0 ADCY5 111 broad.mit.edu 37 3 123019032 123019032 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:123019032G>A ENST00000462833.1 - 15 4047 c.2835C>T c.(2833-2835)ctC>ctT p.L945L ADCY5_ENST00000309879.5_Silent_p.L595L|ADCY5_ENST00000491190.1_Silent_p.L578L NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 945 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCTCCACGATGAGCACGTAGA 0.632000 5 58 0 0 0.000602 0 0 GPAT2 150763 broad.mit.edu 37 2 96689186 96689186 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:96689186G>A ENST00000434632.1 - 19 2358 c.1899C>T c.(1897-1899)acC>acT p.T633T GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Silent_p.T633T|GPAT2_ENST00000453542.1_Silent_p.T562T Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 633 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 GGGAGCCTGGGGTCTAGGGGC 0.567000 10 41 0 0 0.000978 0 0 DPYD 1806 broad.mit.edu 37 1 98015229 98015229 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:98015229T>A ENST00000370192.3 - 12 1511 c.1411A>T c.(1411-1413)Act>Tct p.T471S NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 471 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GCTTCACTAGTTTGCATAGTT 0.403000 10 21 0 0 0.000673 0 0 CENPE 1062 broad.mit.edu 37 4 104035710 104035710 + Splice_Site SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:104035710C>T ENST00000265148.3 - 46 7532 c.e46-1 CENPE_ENST00000380026.3_Splice_Site NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AGCACTGATTCTAACAAAAAC 0.348000 5 25 0 0 0.000602 0 0 SH2D3C 10044 broad.mit.edu 37 9 130511596 130511596 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:130511596C>A ENST00000314830.8 - 5 1146 c.1033G>T c.(1033-1035)Gtc>Ttc p.V345F SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373277.4_Missense_Mutation_p.V188F|SH2D3C_ENST00000373276.3_Missense_Mutation_p.V277F|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.V185F|SH2D3C_ENST00000420366.1_Missense_Mutation_p.V187F NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 345 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAGGGGCTGACGGGGCTAGCA 0.657000 12 51 0.000978159 0.00196659 0.000978 1 0 IFI16 3428 broad.mit.edu 37 1 159021690 159021690 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:159021690C>G ENST00000295809.7 + 10 2142 c.1887C>G c.(1885-1887)atC>atG p.I629M IFI16_ENST00000448393.2_Missense_Mutation_p.I517M|IFI16_ENST00000368131.4_Missense_Mutation_p.I573M|IFI16_ENST00000368132.3_Missense_Mutation_p.I573M|IFI16_ENST00000340979.6_Missense_Mutation_p.I517M|IFI16_ENST00000430894.2_Missense_Mutation_p.I577M|IFI16_ENST00000359709.3_Missense_Mutation_p.I573M Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 629 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CAAAGAAGATCATTGCCATAG 0.423000 13 59 0 0 0.001368 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924580 105924580 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:105924580T>G ENST00000526793.1 - 3 995 c.836A>C c.(835-837)cAa>cCa p.Q279P KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q200P|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q279P NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 275 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ACCAGAACCTTGCACACACTT 0.378000 4 54 0 0 0.000248 0 0 PGM5 5239 broad.mit.edu 37 9 71002492 71002492 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:71002492G>C ENST00000396396.1 + 4 914 c.685G>C c.(685-687)Gca>Cca p.A229P PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.A229P NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 229 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 TCGCATTGACGCAATGCACGG 0.468000 7 55 0 0 0.001984 0 0 PXDN 7837 broad.mit.edu 37 2 1664703 1664703 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:1664703G>C ENST00000252804.4 - 14 1837 c.1787C>G c.(1786-1788)gCc>gGc p.A596G NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 596 Ig-like C2-type 4. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGTGTTCCGGGCCACACACTC 0.522000 5 57 0 0 0.001984 0 0 HTR1A 3350 broad.mit.edu 37 5 63256923 63256923 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:63256923C>A ENST00000323865.3 - 1 857 c.624G>T c.(622-624)ctG>ctT p.L208L RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 208 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCATGAGCAGCAGCGGGATGT 0.592000 37 122 2.66277e-13 6.31479e-13 0.001485 1 0 MYH13 8735 broad.mit.edu 37 17 10213055 10213055 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:10213055C>A ENST00000418404.3 - 33 4912 c.4749G>T c.(4747-4749)aaG>aaT p.K1583N MYH13_ENST00000252172.4_Missense_Mutation_p.K1583N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1583N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1583 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTTCTTCATCCTTCTCAATGA 0.562000 3 7 6.4e-05 0.000131785 0.004672 1 0 HIC2 23119 broad.mit.edu 37 22 21799710 21799710 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:21799710C>T ENST00000443632.2 + 2 898 c.526C>T c.(526-528)Cag>Tag p.Q176* HIC2_ENST00000407598.2_Nonsense_Mutation_p.Q176*|HIC2_ENST00000407464.2_Nonsense_Mutation_p.Q176* Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 176 Q -> R (in Ref. 3; BAA82972). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) AGCTCGGTATCAGGGGCTCGT 0.677000 14 12 0 0 0.003163 0 0 ING5 84289 broad.mit.edu 37 2 242662623 242662623 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:242662623A>T ENST00000313552.6 + 7 644 c.e7-1 ING5_ENST00000406941.1_Splice_Site NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTTACTTTGCAGTGTCCAATT 0.522000 57 191 0 0 0.003610 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964112 73964112 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:73964112C>T ENST00000373468.1 - 3 931 c.280G>A c.(280-282)Gct>Act p.A94T KIAA2022_ENST00000055682.5_Missense_Mutation_p.A94T Q5QGS0 K2022_HUMAN KIAA2022 94 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTCACAGAAGCACTATTAGCA 0.512000 21 101 0 0 0.001523 0 0 FAM214B 80256 broad.mit.edu 37 9 35107755 35107755 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:35107755C>T ENST00000378561.1 - 2 3572 c.517G>A c.(517-519)Gag>Aag p.E173K FAM214B_ENST00000603301.1_Missense_Mutation_p.E173K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E173K|FAM214B_ENST00000378557.1_Missense_Mutation_p.E173K|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000488109.2_Missense_Mutation_p.E173K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E173K|FAM214B_ENST00000605244.1_Missense_Mutation_p.E173K Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 173 nucleus CCTGGGGACTCCCCCAGGGAC 0.632000 15 109 0 0 0.003163 0 0 KCNK10 54207 broad.mit.edu 37 14 88707107 88707107 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:88707107T>A ENST00000340700.5 - 3 896 c.445A>T c.(445-447)Agc>Tgc p.S149C KCNK10_ENST00000312350.5_Missense_Mutation_p.S154C|KCNK10_ENST00000319231.5_Missense_Mutation_p.S154C NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 149 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CAGTGGCTGCTGTTGTTGGAA 0.458000 27 105 0 0 0.003954 0 0 ZNF136 7695 broad.mit.edu 37 19 12297490 12297490 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:12297490G>A ENST00000343979.4 + 4 437 c.297G>A c.(295-297)gtG>gtA p.V99V ZNF136_ENST00000398616.2_Silent_p.V33V NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 99 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TCCCTGGAGTGAAACTCTGTG 0.398000 5 33 0 0 0.001168 0 0 MUC17 140453 broad.mit.edu 37 7 100679091 100679091 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:100679091C>A ENST00000306151.4 + 3 4458 c.4394C>A c.(4393-4395)aCg>aAg p.T1465K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1465 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCAACACGCCGGTGGCC 0.473000 80 288 5.41795e-27 1.35184e-26 0.003610 1 0 ZNRF3 84133 broad.mit.edu 37 22 29442723 29442723 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:29442723C>A ENST00000544604.2 + 6 939 c.764C>A c.(763-765)gCt>gAt p.A255D ZNRF3_ENST00000406323.3_Missense_Mutation_p.A155D|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A155D|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A155D NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 255 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 AACAGGCTGGCTGTGCAGGCT 0.562000 50 131 4.86159e-25 1.20908e-24 0.003610 1 0 LOC645752 645752 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 50 0 0 0.004672 0 0 ATP1B3 483 broad.mit.edu 37 3 141622516 141622516 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:141622516C>G ENST00000539728.1 + 3 415 c.122C>G c.(121-123)tCa>tGa p.S41* ATP1B3_ENST00000462082.1_Missense_Mutation_p.H9D|ATP1B3_ENST00000286371.3_Nonsense_Mutation_p.S55* P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide 55 ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity cervix(1)|endometrium(1)|lung(2) 4 GCACTCTTCTCATTCACGATG 0.413000 16 81 0 0 0.006122 0 0 CNTN3 5067 broad.mit.edu 37 3 74350693 74350693 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:74350693C>A ENST00000263665.6 - 15 1978 c.1951G>T c.(1951-1953)Gag>Tag p.E651* NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 651 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCGATGACCTCAGGCACTACA 0.448000 25 48 1.66031e-10 3.7187e-10 0.003954 1 0 TAAR1 134864 broad.mit.edu 37 6 132966284 132966284 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:132966284C>G ENST00000275216.1 - 1 858 c.859G>C c.(859-861)Gat>Cat p.D287H NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 287 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) ATCAATACATCATTCAAAGTA 0.373000 10 45 0 0 0.000443 0 0 UVRAG 7405 broad.mit.edu 37 11 75851885 75851885 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:75851885G>A ENST00000356136.3 + 15 1769 c.1528G>A c.(1528-1530)Gag>Aag p.E510K UVRAG_ENST00000538870.1_Missense_Mutation_p.E66K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E138K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E138K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E138K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E138K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E409K NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 510 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 GGCCAGCTCTGAGAATGAGAG 0.527000 7 104 0 0 0.001984 0 0 PES1 23481 broad.mit.edu 37 22 30977575 30977575 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:30977575C>T ENST00000402281.1 - 9 1261 c.270G>A c.(268-270)acG>acA p.T90T PES1_ENST00000405677.1_Silent_p.T90T|PES1_ENST00000354694.6_Silent_p.T229T|PES1_ENST00000335214.6_Silent_p.T229T|PES1_ENST00000402284.3_Silent_p.T212T O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 229 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 AGCCCAGCAGCGTGGTGTAGA 0.597000 5 34 0 0 0.000602 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1876769 1876769 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:1876769G>C ENST00000518288.1 + 25 3109 c.2946G>C c.(2944-2946)gtG>gtC p.V982V ARHGEF10_ENST00000520359.1_Silent_p.V920V|ARHGEF10_ENST00000262112.6_Silent_p.V954V|ARHGEF10_ENST00000349830.3_Silent_p.V958V|ARHGEF10_ENST00000398564.1_Silent_p.V983V O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 983 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCCCGGCCGTGAGAGCTTCTG 0.612000 6 60 0 0 0.001984 0 0 OR52E6 390078 broad.mit.edu 37 11 5862952 5862952 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:5862952T>A ENST00000329322.5 - 1 175 c.176A>T c.(175-177)gAg>gTg p.E59V OR52E6_ENST00000379946.2_Missense_Mutation_p.E63V|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTACATGGGCTCATGGAGACT 0.463000 17 98 0 0 0.004990 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13928281 13928281 + RNA SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:13928281G>A ENST00000602743.1 - 0 224 ACCAGCGGCGGAGCCAGAGCC 0.577000 5 8 0 0 0.000602 0 0 SOX13 9580 broad.mit.edu 37 1 204093816 204093816 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:204093816G>A ENST00000367204.1 + 13 1532 c.1423G>A c.(1423-1425)Gag>Aag p.E475K NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 475 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GCCCTACTATGAGGAACAGGC 0.632000 6 18 0 0 0.001984 0 0 OSBPL6 114880 broad.mit.edu 37 2 179259094 179259094 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:179259094G>A ENST00000190611.4 + 24 3004 c.2628G>A c.(2626-2628)gaG>gaA p.E876E OSBPL6_ENST00000315022.2_Silent_p.E880E|OSBPL6_ENST00000409631.1_Silent_p.E840E|OSBPL6_ENST00000409045.3_Silent_p.E845E|OSBPL6_ENST00000359685.3_Silent_p.E840E|OSBPL6_ENST00000392505.2_Silent_p.E901E NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 876 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AAAGAGTAGAGGAACTCCAGA 0.348000 22 66 0 0 0.003330 0 0 DLG2 1740 broad.mit.edu 37 11 83673932 83673932 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:83673932T>G ENST00000398309.2 - 9 1491 c.1021A>C c.(1021-1023)Acc>Ccc p.T341P DLG2_ENST00000418306.2_Missense_Mutation_p.T290P|DLG2_ENST00000543673.1_Missense_Mutation_p.T446P|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.T95P|DLG2_ENST00000330014.6_Missense_Mutation_p.T280P|DLG2_ENST00000376104.2_Missense_Mutation_p.T446P|DLG2_ENST00000532653.1_Missense_Mutation_p.T341P|DLG2_ENST00000524982.1_Missense_Mutation_p.T341P|DLG2_ENST00000280241.8_Missense_Mutation_p.T380P|DLG2_ENST00000531015.1_Missense_Mutation_p.T308P|DLG2_ENST00000398301.2_Missense_Mutation_p.T380P NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 341 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTGACCTGGTGTAGTCGTCG 0.418000 4 218 0 0 0.000248 0 0 CELF2 10659 broad.mit.edu 37 10 11047378 11047378 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:11047378A>G ENST00000379261.4 + 1 120 c.28A>G c.(28-30)Atg>Gtg p.M10V CELF2_ENST00000416382.2_Missense_Mutation_p.M10V NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 10 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CGCTGTTACTATGAGAAATGA 0.413000 6 182 0 0 0.001984 0 0 GRAMD4 23151 broad.mit.edu 37 22 47033858 47033858 + Splice_Site SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:47033858G>T ENST00000406902.1 + 3 496 c.e3+1 GRAMD4_ENST00000361034.3_Splice_Site Q6IC98 GRAM4_HUMAN GRAM domain containing 4 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CATTTCTTACGTGAGTACCAG 0.522000 31 94 9.04072e-19 2.20547e-18 0.003271 1 0 PRSS58 136541 broad.mit.edu 37 7 141952173 141952173 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:141952173C>T ENST00000552471.1 - 5 913 c.594G>A c.(592-594)ccG>ccA p.P198P PRSS58_ENST00000547058.2_Silent_p.P198P Q8IYP2 PRS58_HUMAN protease, serine, 58 198 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TGCAGATTGCCGGGGCAGCAG 0.393000 7 31 0 0 0.003080 0 0 LMBR1L 55716 broad.mit.edu 37 12 49495950 49495950 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:49495950G>A ENST00000267102.8 - 11 1225 c.883C>T c.(883-885)Cgg>Tgg p.R295W LMBR1L_ENST00000547382.1_Missense_Mutation_p.R295W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R290W NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 295 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCCAGGTTCCGTTGCCAGGCT 0.597000 11 63 0 0 0.000978 0 0 ATP8A1 10396 broad.mit.edu 37 4 42602537 42602537 + Splice_Site SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:42602537T>A ENST00000381668.5 - 6 641 c.e6-2 ATP8A1_ENST00000264449.10_Splice_Site NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TTCTCAAAACTGGAAAGAGAA 0.333000 5 27 0 0 0.000602 0 0 USP10 9100 broad.mit.edu 37 16 84808830 84808830 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:84808830A>T ENST00000219473.7 + 13 2321 c.2209_splice c.e13+1 p.A736_splice USP10_ENST00000570191.1_Splice_Site_p.A740_splice NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 736 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GGCTCTTTGCAGGTGAGTAAA 0.403000 19 58 0 0 0.001523 0 0 C2orf78 388960 broad.mit.edu 37 2 74041177 74041177 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:74041177C>G ENST00000409561.1 + 2 792 c.671C>G c.(670-672)tCc>tGc p.S224C NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 224 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCTCAACTATCCTGCCTGCAA 0.483000 18 74 0 0 0.006122 0 0 ITGAL 3683 broad.mit.edu 37 16 30518132 30518132 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:30518132G>C ENST00000356798.6 + 21 2643 c.2463G>C c.(2461-2463)ctG>ctC p.L821L ITGAL_ENST00000358164.5_Silent_p.L737L|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 821 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) AGCTGGACCTGCACTTCCCCC 0.602000 33 180 0 0 0.002836 0 0 FBXO3 26273 broad.mit.edu 37 11 33768856 33768856 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:33768856T>C ENST00000530401.1 - 10 1064 c.1044A>G c.(1042-1044)ccA>ccG p.P348P FBXO3_ENST00000526785.1_Silent_p.P240P|FBXO3_ENST00000531080.1_Silent_p.P40P|FBXO3_ENST00000534136.1_Silent_p.P353P|FBXO3_ENST00000532057.1_Silent_p.P40P|FBXO3_ENST00000448981.2_Silent_p.P353P|FBXO3_ENST00000265651.3_Silent_p.P353P Q9UK99 FBX3_HUMAN F-box protein 3 353 ApaG. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) GGCTGATGATTGGAAATTCAC 0.343000 14 35 0 0 0.004007 0 0 ABCA2 20 broad.mit.edu 37 9 139913671 139913671 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:139913671C>T ENST00000265662.5 - 11 1660 c.1513G>A c.(1513-1515)Gag>Aag p.E505K ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.E504K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E505K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 504 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTGCCCTGCTCCAGGAAGCTG 0.652000 6 31 0 0 0.001168 0 0 MUC20 200958 broad.mit.edu 37 3 195451995 195451995 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:195451995C>G ENST00000320736.6 + 2 647 c.521C>G c.(520-522)tCa>tGa p.S174* MUC20_ENST00000447234.2_Nonsense_Mutation_p.S174*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.S139*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.S174* NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 345 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GGCCTGTCCTCAGAGAGCAGC 0.587000 19 133 0 0 0.001216 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425409 143425409 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:143425409G>T ENST00000524325.1 - 4 838 c.663C>A c.(661-663)ctC>ctA p.L221L TSNARE1_ENST00000307180.3_Silent_p.L221L|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Silent_p.L221L Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 221 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCACGGGCGTGAGAGCCAGGG 0.706000 10 41 1.33987e-11 3.10073e-11 0.000673 1 0 C17orf47 284083 broad.mit.edu 37 17 56620420 56620420 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:56620420G>C ENST00000321691.3 - 1 1309 c.1128C>G c.(1126-1128)acC>acG p.T376T RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 376 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGGTTTTTGGGTTTGCTGTT 0.493000 13 61 0 0 0.002450 0 0 UROC1 131669 broad.mit.edu 37 3 126220752 126220752 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:126220752G>T ENST00000383579.3 - 10 975 c.942C>A c.(940-942)gcC>gcA p.A314A UROC1_ENST00000290868.2_Intron NM_001165974.1 NP_001159446.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 0 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CAGGGAGGCCGGCCCAGCCCA 0.647000 13 52 7.03913e-09 1.55388e-08 0.001368 1 0 ATP5G3 518 broad.mit.edu 37 2 176043799 176043799 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:176043799G>C ENST00000284727.4 - 4 3324 c.300C>G c.(298-300)atC>atG p.I100M ATP5G3_ENST00000409194.1_Missense_Mutation_p.I100M|ATP5G3_ENST00000392541.3_Missense_Mutation_p.I100M NM_001002258.4|NM_001689.4 NP_001002258.1|NP_001680.1 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 100 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.147) CATAACCAATGATAAGGCTGC 0.413000 11 42 0 0 0.001855 0 0 GABRQ 55879 broad.mit.edu 37 X 151820062 151820062 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:151820062C>G ENST00000370306.2 + 8 995 c.975C>G c.(973-975)atC>atG p.I325M NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 325 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGTATCAAGGCCATTG 0.448000 33 84 0 0 0.002096 0 0 SEMA6B 10501 broad.mit.edu 37 19 4548323 4548323 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:4548323G>C ENST00000586582.1 - 13 1716 c.1406C>G c.(1405-1407)tCt>tGt p.S469C SEMA6B_ENST00000586965.1_Missense_Mutation_p.S469C|SEMA6B_ENST00000301293.3_Missense_Mutation_p.S469C NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 469 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGAGCCCAGACGTCCCTGA 0.647000 8 61 0 0 0.003080 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913505 47913505 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:47913505G>A ENST00000289672.2 - 24 3938 c.3888C>T c.(3886-3888)ggC>ggT p.G1296G NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1296 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ACAGGTCCTCGCCCAGACAGT 0.502000 6 42 0 0 0.001168 0 0 PNOC 5368 broad.mit.edu 37 8 28196682 28196682 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:28196682C>T ENST00000301908.3 + 3 460 c.252C>T c.(250-252)ctC>ctT p.L84L PNOC_ENST00000522209.1_Silent_p.L20L|RP11-380I10.4_ENST00000521731.1_RNA NM_006228.3 NP_006219.1 Q13519 PNOC_HUMAN prepronociceptin 84 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) CGGCTGCTCTCTACCAGCCGA 0.652000 12 63 0 0 0.001368 0 0 VPS13B 157680 broad.mit.edu 37 8 100831006 100831006 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:100831006G>A ENST00000358544.2 + 47 8697 c.8586G>A c.(8584-8586)gaG>gaA p.E2862E VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E2837E NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2862 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TACATTTGGAGAAAAGGAGTC 0.373000 15 111 0 0 0.004007 0 0 FLG 2312 broad.mit.edu 37 1 152277553 152277553 + Missense_Mutation SNP C C T rs147429418 byFrequency TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:152277553C>T ENST00000368799.1 - 3 9844 c.9809G>A c.(9808-9810)cGc>cAc p.R3270H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3270 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCTGGAGCGGTCTGCAGA 0.577000 Ichthyosis 93 380 0 0 0.003610 0 0 TTC8 123016 broad.mit.edu 37 14 89305909 89305909 + Silent SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:89305909A>G ENST00000338104.6 + 2 280 c.228A>G c.(226-228)caA>caG p.Q76Q TTC8_ENST00000345383.5_Silent_p.Q76Q|TTC8_ENST00000380656.2_Silent_p.Q86Q|TTC8_ENST00000346301.4_Silent_p.Q76Q|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000354441.6_Intron Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 86 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CTATAGCTCAAGTTCCACGTA 0.328000 6 45 0 0 0.004482 0 0 HTR1A 3350 broad.mit.edu 37 5 63256365 63256365 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:63256365C>A ENST00000323865.3 - 1 1415 c.1182G>T c.(1180-1182)ctG>ctT p.L394L RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 394 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CGGGGTTAAGCAGAGAGTTGG 0.498000 47 159 4.01344e-20 9.8535e-20 0.003610 1 0 TEX15 56154 broad.mit.edu 37 8 30695362 30695362 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:30695362T>A ENST00000256246.2 - 3 7363 c.7289A>T c.(7288-7290)gAa>gTa p.E2430V NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2430 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTTAAATTTTCCTGTTGTCC 0.358000 39 157 0 0 0.005524 0 0 SNTG1 54212 broad.mit.edu 37 8 51617301 51617301 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:51617301G>A ENST00000522124.1 + 16 1841 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K SNTG1_ENST00000276467.5_Missense_Mutation_p.E394K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E394K|SNTG1_ENST00000518864.1_Missense_Mutation_p.E394K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 394 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTAGAAGTAGAACGGATACA 0.507000 4 31 0 0 0.000248 0 0 SSPO 23145 broad.mit.edu 37 7 149486333 149486333 + RNA SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:149486333C>A ENST00000378016.2 + 0 4309 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTCTGTGACCGCCAGGATGA 0.687000 6 29 0.00198382 0.00390644 0.001984 1 0 WWC3 55841 broad.mit.edu 37 X 10106854 10106854 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:10106854T>A ENST00000380861.4 + 21 3353 c.2962T>A c.(2962-2964)Tgc>Agc p.C988S WWC3_ENST00000454666.1_Missense_Mutation_p.C988S NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 988 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 TGAGGAGCTCTGCGCCCTCCG 0.677000 7 28 0 0 0.001984 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29686564 29686564 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:29686564C>T ENST00000378993.1 + 6 1394 c.721C>T c.(721-723)Cca>Tca p.P241S IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P241S NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 241 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GACTGATAAGCCACCCAAGCT 0.368000 4 32 0 0 0.001168 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320154 79320154 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:79320154C>A ENST00000428286.1 - 8 7159 c.5959G>T c.(5959-5961)Gaa>Taa p.E1987* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.E2346* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2346 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CACGAGGCTTCAGATGAGCAG 0.473000 32 133 9.65021e-13 2.27448e-12 0.002096 1 0 PARP8 79668 broad.mit.edu 37 5 50092850 50092850 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:50092850G>A ENST00000281631.5 + 13 1621 c.1463G>A c.(1462-1464)cGt>cAt p.R488H PARP8_ENST00000505697.2_Missense_Mutation_p.R488H|PARP8_ENST00000503750.2_Missense_Mutation_p.R488H|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.R241H|PARP8_ENST00000514067.2_Missense_Mutation_p.R488H|PARP8_ENST00000505554.1_Missense_Mutation_p.R467H NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 488 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GTACGAGACCGTGGCTTCCTG 0.308000 8 20 0 0 0.004482 0 0 OR51G1 79324 broad.mit.edu 37 11 4945474 4945474 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:4945474G>T ENST00000321961.2 - 1 163 c.96C>A c.(94-96)ccC>ccA p.P32P MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAAGCAGAAGGGAATAGAGA 0.468000 11 50 1.33987e-11 3.10073e-11 0.000673 1 0 MB21D2 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:192516720G>C ENST00000392452.2 - 2 1251 c.931C>G c.(931-933)Cag>Gag p.Q311E NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 311 p.Q309E(2) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TTGCAGGCCTGATAGGCCTGC 0.557000 3 73 0 0 0.000248 0 0 ATP2A2 488 broad.mit.edu 37 12 110784230 110784230 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:110784230G>T ENST00000395494.2 + 19 3566 c.3003G>T c.(3001-3003)tgG>tgT p.W1001C ATP2A2_ENST00000308664.6_Intron|ATP2A2_ENST00000539276.2_Missense_Mutation_p.W1028C P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 1028 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGGTGATCTGGGTCTATAGCA 0.433000 6 31 0.00198382 0.00390644 0.001984 1 0 PARD3 56288 broad.mit.edu 37 10 34420402 34420402 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:34420402C>G ENST00000374789.3 - 23 3863 c.3538G>C c.(3538-3540)Gag>Cag p.E1180Q PARD3_ENST00000374794.3_Missense_Mutation_p.E1068Q|PARD3_ENST00000374790.3_Missense_Mutation_p.E1120Q|PARD3_ENST00000350537.4_Missense_Mutation_p.E1134Q|PARD3_ENST00000545693.1_Missense_Mutation_p.E1164Q|PARD3_ENST00000374788.3_Missense_Mutation_p.E1177Q|PARD3_ENST00000545260.1_Missense_Mutation_p.E1090Q|PARD3_ENST00000346874.4_Missense_Mutation_p.E1143Q NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1180 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CAGGGTTGCTCAAAACTATAG 0.458000 4 47 0 0 0.000248 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399636 89399636 + RNA SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:89399636C>T ENST00000479981.1 - 0 93 ATCTGGATGTCACATCTGGCA 0.443000 17 147 0 0 0.003330 0 0 ST18 9705 broad.mit.edu 37 8 53073977 53073977 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:53073977T>A ENST00000276480.7 - 14 2235 c.1552A>T c.(1552-1554)Ata>Tta p.I518L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 518 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACTGTTTGTATGAGAGGGCGT 0.428000 24 78 0 0 0.003330 0 0 LILRA1 11024 broad.mit.edu 37 19 55106219 55106219 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:55106219G>A ENST00000453777.1 + 4 330 c.160G>A c.(160-162)Gag>Aag p.E54K LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.E54K|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 54 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGGGATCCTGGAGACCCAGGA 0.577000 19 91 0 0 0.006122 0 0 CLK2 1196 broad.mit.edu 37 1 155240769 155240769 + Splice_Site SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:155240769C>G ENST00000368361.4 - 2 316 c.e2-1 CLK2_ENST00000361168.5_Splice_Site|CLK2_ENST00000355560.4_Splice_Site|CLK2_ENST00000536801.1_Splice_Site P49760 CLK2_HUMAN CDC-like kinase 2 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GATGCGGCATCTGGAAGGCAA 0.527000 Other conserved DNA damage response genes 16 144 0 0 0.004007 0 0 TRPC5 7224 broad.mit.edu 37 X 111097124 111097124 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:111097124T>A ENST00000262839.2 - 4 2029 c.1111A>T c.(1111-1113)Aca>Tca p.T371S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 371 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TAGGATGCTGTGTGGCAGATA 0.498000 25 66 0 0 0.003330 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029282 41029282 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:41029282G>A ENST00000244669.2 + 2 391 c.347G>A c.(346-348)cGg>cAg p.R116Q NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 116 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding p.R116Q(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) CCAGCCCTGCGGTACAATGTC 0.562000 13 155 0 0 0.001368 0 0 PARVG 64098 broad.mit.edu 37 22 44585010 44585010 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:44585010C>T ENST00000422871.1 + 6 688 c.264C>T c.(262-264)ctC>ctT p.L88L PARVG_ENST00000444313.2_Silent_p.L88L|PARVG_ENST00000415224.1_Silent_p.L88L NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 88 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) TGGCGGCGCTCAAGCTGGAAG 0.652000 5 61 0 0 0.000602 0 0 ITGA8 8516 broad.mit.edu 37 10 15655677 15655677 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:15655677G>C ENST00000378076.3 - 15 1888 c.1535C>G c.(1534-1536)tCt>tGt p.S512C NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 512 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AGATGTCATAGAGTCTGGAAC 0.453000 17 112 0 0 0.006122 0 0 KCNK18 338567 broad.mit.edu 37 10 118969465 118969465 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:118969465T>C ENST00000334549.1 + 3 810 c.810T>C c.(808-810)gaT>gaC p.D270D NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 270 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) GCAACCTGGATGAAGTTGGAC 0.527000 18 93 0 0 0.006122 0 0 LINGO1 84894 broad.mit.edu 37 15 77906424 77906424 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:77906424C>A ENST00000355300.6 - 2 1999 c.1825G>T c.(1825-1827)Gcc>Tcc p.A609S LINGO1_ENST00000561030.1_Missense_Mutation_p.A603S NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 609 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GGCGCGTCGGCGGAGCTGATG 0.672000 10 15 2.17888e-05 4.53538e-05 0.000443 1 0 PCDHB18P 54660 broad.mit.edu 37 5 140616044 140616044 + RNA SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:140616044C>A ENST00000526308.1 + 0 2107 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CAAGCACAGGCTGGTGGTGCT 0.706000 15 50 8.60227e-14 2.04638e-13 0.004007 1 0 MTR 4548 broad.mit.edu 37 1 236979822 236979822 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:236979822T>A ENST00000366577.5 + 8 1137 c.743T>A c.(742-744)gTg>gAg p.V248E MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.V248E NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 248 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GTCATCAGCGTGTCTCATGGA 0.458000 26 101 0 0 0.001271 0 0 FAM135B 51059 broad.mit.edu 37 8 139155262 139155262 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:139155262G>T ENST00000395297.1 - 16 3801 c.3631C>A c.(3631-3633)Cga>Aga p.R1211R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1211 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCTAATTCGGGATATGGAG 0.398000 HNSCC(54;0.14) 4 32 1.23904e-05 2.59318e-05 0.000602 1 0 ADCY2 108 broad.mit.edu 37 5 7717278 7717278 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:7717278C>A ENST00000338316.4 + 12 1720 c.1631C>A c.(1630-1632)tCa>tAa p.S544* ADCY2_ENST00000537121.1_Nonsense_Mutation_p.S364*|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 544 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGAACCAAGTCACAAAAGAAG 0.269000 5 50 8.12818e-05 0.00016559 0.001984 1 0 RARRES2 5919 broad.mit.edu 37 7 150036164 150036164 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:150036164G>C ENST00000466675.1 - 3 1319 c.286C>G c.(286-288)Cgg>Ggg p.R96G RARRES2_ENST00000482669.1_Missense_Mutation_p.R96G|RARRES2_ENST00000223271.3_Missense_Mutation_p.R96G Q99969 RARR2_HUMAN retinoic acid receptor responder (tazarotene induced) 2 96 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) AGGCATTTCCGTTTCCTCTGT 0.617000 18 76 0 0 0.006122 0 0 FAM208B 54906 broad.mit.edu 37 10 5799599 5799599 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:5799599G>A ENST00000328090.5 + 17 7474 c.6849G>A c.(6847-6849)gtG>gtA p.V2283V NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2283 GAGGCTTTGTGATATCAGATG 0.428000 6 155 0 0 0.001984 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74874270 74874270 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:74874270C>T ENST00000331628.3 - 4 932 c.685G>A c.(685-687)Gca>Aca p.A229T SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.A229T NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 229 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 ATGTAAGCTGCCAGAGCCACC 0.652000 17 68 0 0 0.004007 0 0 CTNNA2 1496 broad.mit.edu 37 2 80097015 80097015 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:80097015G>T ENST00000466387.1 + 9 1263 c.539G>T c.(538-540)gGg>gTg p.G180V CTNNA2_ENST00000496558.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G214V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.G180V P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 180 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAAGAGTTTGGGAAAGAGATG 0.403000 8 52 5.4927e-09 1.21601e-08 0.004482 1 0 FUT9 10690 broad.mit.edu 37 6 96651727 96651727 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:96651727T>C ENST00000302103.5 + 3 1022 c.696T>C c.(694-696)atT>atC p.I232I NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 232 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AAAATTTGATTCCTACCATAT 0.358000 5 21 0 0 0.000602 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344884 38344884 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:38344884G>A ENST00000374618.3 + 5 2010 c.1832G>A c.(1831-1833)tGt>tAt p.C611Y ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C610Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C617Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C610Y NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 610 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CCCTATGAATGTAATGAATGT 0.363000 11 58 0 0 0.000978 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100672232 100672232 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:100672232C>G ENST00000268070.4 - 12 1806 c.1701G>C c.(1699-1701)caG>caC p.Q567H NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 567 TSP type-1 1. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CACATTTCCTCTGCCTGAAGC 0.627000 OREG0023513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 79 0 0 0.003080 0 0 MPDZ 8777 broad.mit.edu 37 9 13168483 13168483 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:13168483C>A ENST00000319217.7 - 22 3383 c.3136G>T c.(3136-3138)Ggc>Tgc p.G1046C MPDZ_ENST00000447879.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1046C|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1046C NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1046 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GCAATCCGGCCATCTCGACTA 0.453000 113 129 1.22118e-62 3.06695e-62 0.003610 1 0 FRZB 2487 broad.mit.edu 37 2 183731215 183731215 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:183731215G>A ENST00000295113.4 - 1 675 c.66C>T c.(64-66)ctC>ctT p.L22L NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 22 brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GGAGCAGGCAGAGAGCAGCCA 0.706000 4 5 0 0 0.001984 0 0 AKAP9 10142 broad.mit.edu 37 7 91730347 91730347 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:91730347G>C ENST00000359028.2 + 45 11311 c.11086G>C c.(11086-11088)Gat>Cat p.D3696H AKAP9_ENST00000358100.2_Missense_Mutation_p.D3642H|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3692H Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3696 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCTGAGCCCTGATTCTGAACA 0.383000 T BRAF papillary thyroid 7 29 0 0 0.003080 0 0 OR4E2 26686 broad.mit.edu 37 14 22133982 22133982 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:22133982C>G ENST00000408935.1 + 1 686 c.686C>G c.(685-687)tCa>tGa p.S229* NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CGAAAACACTCAGCTGAAGGG 0.517000 11 64 0 0 0.000673 0 0 HSPA8 3312 broad.mit.edu 37 11 122930370 122930370 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:122930370G>A ENST00000534624.1 - 5 1207 c.931C>T c.(931-933)Cgt>Tgt p.R311C HSPA8_ENST00000227378.3_Missense_Mutation_p.R311C|HSPA8_ENST00000534319.1_Missense_Mutation_p.R75C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R165C|HSPA8_ENST00000532636.1_Missense_Mutation_p.R311C|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.R311C|HSPA8_ENST00000526110.1_Missense_Mutation_p.R292C NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 311 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGGGTGCCACGGAACAGGTCA 0.488000 17 39 0 0 0.006122 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563947 140563947 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:140563947C>A ENST00000361016.2 + 1 2968 c.1813C>A c.(1813-1815)Cag>Aag p.Q605K NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 605 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGTCGTACCAGCTGCTCAA 0.706000 35 101 2.87052e-16 6.91452e-16 0.005524 1 0 FAM13A 10144 broad.mit.edu 37 4 89668809 89668809 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:89668809C>A ENST00000264344.5 - 18 2562 c.2355G>T c.(2353-2355)gcG>gcT p.A785A FAM13A_ENST00000513837.1_Silent_p.A431A|FAM13A_ENST00000508369.1_Silent_p.A459A|FAM13A_ENST00000395002.2_Silent_p.A459A|FAM13A_ENST00000511976.1_Silent_p.A371A|FAM13A_ENST00000503556.1_Silent_p.A445A NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 785 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GGCTGCTTTCCGCTCGCTTCT 0.498000 25 141 3.73988e-18 9.09445e-18 0.001061 1 0 ZNF831 128611 broad.mit.edu 37 20 57767508 57767508 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:57767508C>G ENST00000371030.2 + 1 1434 c.1434C>G c.(1432-1434)gaC>gaG p.D478E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 478 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CGCCCCCAGACAAGTCTCGGC 0.662000 13 47 0 0 0.001855 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900413 151900413 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:151900413A>T ENST00000393900.3 - 3 741 c.388T>A c.(388-390)Ttc>Atc p.F130I CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.F130I|MAGEA12_ENST00000357916.4_Missense_Mutation_p.F130I NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 130 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GCCTTTGTGAATGGCTCCCTG 0.498000 47 117 0 0 0.003610 0 0 CSMD1 64478 broad.mit.edu 37 8 3256980 3256980 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:3256980C>G ENST00000602557.1 - 17 2896 c.2341G>C c.(2341-2343)Gat>Cat p.D781H CSMD1_ENST00000602723.1_Missense_Mutation_p.D781H|CSMD1_ENST00000542608.1_Missense_Mutation_p.D780H|CSMD1_ENST00000537824.1_Missense_Mutation_p.D780H|CSMD1_ENST00000539096.1_Missense_Mutation_p.D780H|CSMD1_ENST00000400186.3_Missense_Mutation_p.D781H|CSMD1_ENST00000520002.1_Missense_Mutation_p.D781H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 781 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTAAAGAATCCTTATAATAT 0.388000 12 48 0 0 0.000978 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562680 140562680 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:140562680C>T ENST00000361016.2 + 1 1701 c.546C>T c.(544-546)atC>atT p.I182I NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 182 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGTTCTAATCCATGAATTCA 0.458000 12 33 0 0 0.001368 0 0 ERN1 2081 broad.mit.edu 37 17 62122729 62122729 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:62122729G>A ENST00000433197.2 - 20 2738 c.2643C>T c.(2641-2643)ccC>ccT p.P881P NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 881 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CTGTCTGGAGGGGGACAGTGA 0.562000 6 37 0 0 0.001168 0 0 CPXM1 56265 broad.mit.edu 37 20 2775946 2775946 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:2775946C>A ENST00000380605.2 - 12 1901 c.1837G>T c.(1837-1839)Gcc>Tcc p.A613S NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 613 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding p.A613P(1) endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTGAGGAGGGCGTCTTTGTTG 0.572000 6 43 8.12818e-05 0.00016559 0.001984 1 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653889 5653889 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:5653889G>T ENST00000354852.5 + 8 1563 c.1390G>T c.(1390-1392)Gag>Tag p.E464* TRIM34_ENST00000429814.2_Nonsense_Mutation_p.E110*|TRIM6-TRIM34_ENST00000457787.2_Nonsense_Mutation_p.E110*|TRIM34_ENST00000514226.1_Nonsense_Mutation_p.E110*|HBG2_ENST00000380259.2_Intron NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 464 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CTTCTGTAAGGAGGATAGGAA 0.493000 4 23 0.00024832 0.000504544 0.000248 1 0 DGKA 1606 broad.mit.edu 37 12 56332340 56332340 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:56332340G>C ENST00000331886.5 + 6 849 c.395G>C c.(394-396)aGc>aCc p.S132T DGKA_ENST00000551156.1_Missense_Mutation_p.S132T|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.S132T NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 132 EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ATCCTGGACAGCTCAGTGAGT 0.507000 29 122 0 0 0.001512 0 0 IER5 51278 broad.mit.edu 37 1 181058479 181058479 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:181058479G>C ENST00000367577.4 + 1 842 c.441G>C c.(439-441)ccG>ccC p.P147P NM_016545.4 NP_057629.2 Q5VY09 IER5_HUMAN immediate early response 5 147 lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 4 TGGAGGGGCCGCGCCAGGCGG 0.746000 3 9 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179579978 179579978 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:179579978G>A ENST00000589042.1 - 90 26159 c.25935C>T c.(25933-25935)ttC>ttT p.F8645F TTN_ENST00000591111.1_Silent_p.F8328F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F7401F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8328 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTTTTGCGGAAAATGGGTG 0.388000 19 43 0 0 0.006122 0 0 HSPG2 3339 broad.mit.edu 37 1 22157584 22157584 + Splice_Site SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:22157584C>G ENST00000374695.3 - 85 11642 c.e85-1 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.?(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GACCGCCATTCTGCAAAGCAG 0.637000 3 18 0 0 0.004672 0 0 CLCN4 1183 broad.mit.edu 37 X 10176392 10176392 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:10176392C>G ENST00000380833.4 + 9 1542 c.1151C>G c.(1150-1152)gCc>gGc p.A384G CLCN4_ENST00000380829.1_Missense_Mutation_p.A353G|CLCN4_ENST00000421085.2_Missense_Mutation_p.A290G NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 384 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCCATCATTGCCTACCCCAAT 0.577000 47 261 0 0 0.003610 0 0 CSMD2 114784 broad.mit.edu 37 1 34092182 34092182 + Splice_Site SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:34092182C>T ENST00000373381.4 - 33 5377 c.e33-1 CSMD2_ENST00000373388.2_Splice_Site|CSMD2_ENST00000373380.1_Splice_Site|CSMD2_ENST00000373377.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGTGATTCTCCTGCCGAGATA 0.557000 5 11 0 0 0.000602 0 0 GPRC5C 55890 broad.mit.edu 37 17 72443133 72443133 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:72443133C>G ENST00000392627.1 + 4 2553 c.1427C>G c.(1426-1428)tCt>tGt p.S476C GPRC5C_ENST00000392629.2_Missense_Mutation_p.S443C|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S116C NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 431 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding p.S443C(1)|p.S476C(1) central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GGCAAGAACTCTCAGGTCTTT 0.652000 16 91 0 0 0.006122 0 0 FKBP3 2287 broad.mit.edu 37 14 45590112 45590112 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:45590112C>G ENST00000216330.3 - 6 910 c.500G>C c.(499-501)gGa>gCa p.G167A FKBP3_ENST00000396062.3_Missense_Mutation_p.G167A Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 167 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1) 12 TTTGCCTACTCCGACCTTAAA 0.333000 3 61 0 0 0.000248 0 0 ATP8A2 51761 broad.mit.edu 37 13 26154054 26154054 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:26154054G>T ENST00000381655.2 + 22 2118 c.1976G>T c.(1975-1977)cGg>cTg p.R659L ATP8A2_ENST00000255283.8_Missense_Mutation_p.R619L|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 619 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGAGCTCAACGGTTGGAAGAG 0.438000 13 28 2.61681e-11 6.01946e-11 0.002450 1 0 MAPRE3 22924 broad.mit.edu 37 2 27247054 27247054 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:27247054G>C ENST00000233121.2 + 4 556 c.358G>C c.(358-360)Gat>Cat p.D120H MAPRE3_ENST00000402218.1_Missense_Mutation_p.D120H|MAPRE3_ENST00000405074.3_Missense_Mutation_p.D120H Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, member 3 120 cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCAAACTATGATGGAAAGGA 0.413000 7 34 0 0 0.004482 0 0 NR1H4 9971 broad.mit.edu 37 12 100955661 100955661 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:100955661A>T ENST00000548884.1 + 10 1607 c.e10-1 NR1H4_ENST00000188403.7_Splice_Site|NR1H4_ENST00000392986.3_Splice_Site|NR1H4_ENST00000551379.1_Splice_Site|NR1H4_ENST00000549996.1_Splice_Site NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TTTCCCCCACAGGTATCTCTG 0.318000 11 17 0 0 0.000673 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43654256 43654256 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:43654256G>T ENST00000374466.3 + 3 1090 c.755G>T c.(754-756)cGc>cTc p.R252L CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R252L NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 252 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACCCTCTTCCGCCCTTTTGGA 0.393000 11 50 3.07112e-06 6.48065e-06 0.000978 1 0 CERK 64781 broad.mit.edu 37 22 47095335 47095335 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:47095335G>T ENST00000216264.8 - 8 930 c.818C>A c.(817-819)tCa>tAa p.S273* CERK_ENST00000541677.1_Nonsense_Mutation_p.S75* NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 273 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTGGTGGACTGAGGACACATC 0.612000 16 113 1.15088e-07 2.49032e-07 0.004007 1 0 TTLL6 284076 broad.mit.edu 37 17 46867429 46867429 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:46867429C>T ENST00000393382.3 - 10 1405 c.1264G>A c.(1264-1266)Gat>Aat p.D422N TTLL6_ENST00000433608.2_Missense_Mutation_p.D115N NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 374 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 ACCTCTTTATCCAACCGAGAG 0.512000 19 68 0 0 0.001523 0 0 EGFR 1956 broad.mit.edu 37 7 55221793 55221793 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:55221793G>A ENST00000275493.2 + 7 1014 c.837G>A c.(835-837)gtG>gtA p.V279V EGFR_ENST00000455089.1_Silent_p.V234V|EGFR_ENST00000342916.3_Silent_p.V279V|EGFR_ENST00000454757.2_Silent_p.V226V|EGFR_ENST00000344576.2_Silent_p.V279V|EGFR_ENST00000420316.2_Silent_p.V279V|EGFR_ENST00000442591.1_Silent_p.V279V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 279 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGATGGATGTGAACCCCGAGG 0.587000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 67 0 0 0.001984 0 0 CYP4F3 4051 broad.mit.edu 37 19 15754740 15754740 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:15754740G>A ENST00000591058.1 + 3 269 c.222G>A c.(220-222)atG>atA p.M74I CYP4F3_ENST00000221307.7_Intron|CYP4F3_ENST00000585846.1_Missense_Mutation_p.M74I|CYP4F3_ENST00000586182.1_Missense_Mutation_p.M74I NM_001199208.1|NM_001199209.1 NP_001186137.1|NP_001186138.1 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 74 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 AGCAGGGCATGAGGGTCCTGA 0.597000 7 25 0 0 0.001984 0 0 VPS13B 157680 broad.mit.edu 37 8 100831079 100831079 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:100831079G>A ENST00000358544.2 + 47 8770 c.8659G>A c.(8659-8661)Gaa>Aaa p.E2887K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2862K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2887 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCAAAACATAGAACCTGACCT 0.378000 13 67 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525600 176525600 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:176525600G>C ENST00000367662.3 + 2 1306 c.142G>C c.(142-144)Gaa>Caa p.E48Q PAPPA2_ENST00000367661.3_Missense_Mutation_p.E48Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 48 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTTGGAAGGAGAACGTTGTTG 0.572000 17 98 0 0 0.004990 0 0 ADCY3 109 broad.mit.edu 37 2 25050956 25050956 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:25050956C>T ENST00000260600.5 - 13 3098 c.2247G>A c.(2245-2247)gaG>gaA p.E749E ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 749 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ACTTGGGGTTCTCCAGGCAGC 0.607000 OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 36 0 0 0.001168 0 0 SART1 9092 broad.mit.edu 37 11 65744017 65744017 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:65744017G>A ENST00000312397.5 + 13 1816 c.1724G>A c.(1723-1725)cGc>cAc p.R575H NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 575 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCTGGCAATCGCGAGGAGCAG 0.687000 8 39 0 0 0.003080 0 0 KAT6A 7994 broad.mit.edu 37 8 41798738 41798738 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:41798738G>C ENST00000396930.3 - 16 3204 c.2661C>G c.(2659-2661)ctC>ctG p.L887L KAT6A_ENST00000265713.2_Silent_p.L887L|KAT6A_ENST00000406337.1_Silent_p.L887L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 887 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCTCTTCCAAGAGCAGTTTAG 0.483000 14 58 0 0 0.001855 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890179 23890179 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:23890179G>A ENST00000532292.1 - 1 996 c.902C>T c.(901-903)gCc>gTc p.A301V NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GTCATGAAAGGCTAGCGTGTG 0.627000 18 46 0 0 0.006122 0 0 CHST8 64377 broad.mit.edu 37 19 34263714 34263714 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:34263714G>A ENST00000262622.3 + 4 1779 c.1021G>A c.(1021-1023)Gac>Aac p.D341N CHST8_ENST00000434302.1_Missense_Mutation_p.D341N|CHST8_ENST00000438847.2_Missense_Mutation_p.D341N NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 341 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CTGCCTCATCGACTACGATTT 0.607000 13 34 0 0 0.001855 0 0 ZNF668 79759 broad.mit.edu 37 16 31073227 31073227 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:31073227C>T ENST00000538906.1 - 3 1806 c.1022G>A c.(1021-1023)tGt>tAt p.C341Y ZNF668_ENST00000300849.4_Missense_Mutation_p.C341Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C364Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.C341Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C364Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C341Y|ZNF668_ENST00000417110.2_Missense_Mutation_p.H139Y NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CGTCTTGTCACATTGCAGGCA 0.677000 13 59 0 0 0.004007 0 0 NEK11 79858 broad.mit.edu 37 3 130828653 130828653 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:130828653G>A ENST00000383366.4 + 5 636 c.343G>A c.(343-345)Gat>Aat p.D115N NEK11_ENST00000429253.2_Missense_Mutation_p.D115N|NEK11_ENST00000510688.1_Missense_Mutation_p.D115N|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000507910.1_Missense_Mutation_p.D115N|NEK11_ENST00000511262.1_Missense_Mutation_p.D115N|NEK11_ENST00000508196.1_Missense_Mutation_p.D115N|NEK11_ENST00000356918.4_Missense_Mutation_p.D115N|NEK11_ENST00000510769.1_Missense_Mutation_p.D115N|NEK11_ENST00000426022.2_3'UTR NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 115 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TCAGGGCCGAGATCTGGACGA 0.333000 8 101 0 0 0.004482 0 0 MS4A5 64232 broad.mit.edu 37 11 60215208 60215208 + Silent SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:60215208T>C ENST00000300190.2 + 5 665 c.579T>C c.(577-579)gaT>gaC p.D193D NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 193 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 ACTCAGAGGATTGTGATTGTG 0.353000 16 88 0 0 0.004007 0 0 C9orf135 138255 broad.mit.edu 37 9 72435949 72435949 + Splice_Site SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:72435949T>A ENST00000377197.3 + 1 239 c.e1+2 C9orf135_ENST00000466872.2_Splice_Site|C9orf135_ENST00000527647.1_Splice_Site NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 GTATTCCTGGTGAGCGAAGTC 0.587000 10 39 0 0 0.000673 0 0 CEP112 201134 broad.mit.edu 37 17 64059084 64059084 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:64059084T>A ENST00000392769.2 - 11 1289 c.1071A>T c.(1069-1071)aaA>aaT p.K357N CEP112_ENST00000535342.2_Missense_Mutation_p.K357N|CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.K315N NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 357 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 AGCTTACCTTTTTTTCCCAGT 0.299000 7 35 0 0 0.004482 0 0 TRBC2 28638 broad.mit.edu 37 7 142499028 142499028 + RNA SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:142499028G>A ENST00000466254.1 + 0 304 CAGTTCTACGGGCTCTCGGAG 0.627000 17 104 0 0 0.001523 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119768713 119768713 + Silent SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:119768713A>T ENST00000355624.3 - 5 1774 c.1335T>A c.(1333-1335)acT>acA p.T445T RAB11FIP2_ENST00000369199.3_Silent_p.T465T|RAB11FIP2_ENST00000476207.1_5'UTR NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 445 FIP-RBD. protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) GATACCCTGCAGTGGCATCAA 0.458000 25 73 0 0 0.004656 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641925 106641925 + RNA SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:106641925C>T ENST00000390605.2 - 0 105 GTTTCTCTCTCAGCCCTGGGA 0.577000 11 68 0 0 0.000673 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104984567 104984567 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:104984567G>C ENST00000372582.1 + 8 1687 c.931G>C c.(931-933)Gaa>Caa p.E311Q IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E311Q NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 311 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGGAGAAAAAGAAGTTGAATT 0.443000 12 61 0 0 0.001368 0 0 ACTN2 88 broad.mit.edu 37 1 236900470 236900470 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:236900470G>C ENST00000366578.4 + 9 998 c.832G>C c.(832-834)Gag>Cag p.E278Q ACTN2_ENST00000542672.1_Missense_Mutation_p.E278Q|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 278 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGTGAATCAAGAGAATGAGAG 0.512000 7 45 0 0 0.003080 0 0 IGKV4-1 28908 broad.mit.edu 37 2 89185464 89185464 + RNA SNP C C G rs139176691 by1000genomes TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:89185464C>G ENST00000390243.2 + 0 333 TTATACAGCTCCAACAATAAG 0.547000 6 37 0 0 0.001168 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37440991 37440991 + Missense_Mutation SNP C C T rs45515098 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:37440991C>T ENST00000374660.1 + 12 1580 c.1481C>T c.(1480-1482)cCg>cTg p.P494L ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P494L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P494L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 550 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTTATAGATCCGATGTTCCCA 0.294000 9 43 0 0 0.001368 0 0 KLRF1 51348 broad.mit.edu 37 12 9984956 9984956 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:9984956T>C ENST00000279544.3 + 2 194 c.130T>C c.(130-132)Tct>Cct p.S44P KLRF1_ENST00000537723.1_Missense_Mutation_p.S44P|KLRF1_ENST00000354855.3_Missense_Mutation_p.S44P|KLRF1_ENST00000324214.4_Missense_Mutation_p.S44P NM_016523.1 NP_057607.1 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 44 cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 ACTGGGAATATCTGGAACCGT 0.323000 9 28 0 0 0.000443 0 0 CALB2 794 broad.mit.edu 37 16 71406097 71406097 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:71406097C>T ENST00000302628.4 + 2 213 c.136C>T c.(136-138)Caa>Taa p.Q46* CALB2_ENST00000349553.5_Nonsense_Mutation_p.Q46* NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 46 EF-hand 1. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) AAACTTTTTCCAAGAGCTGGA 0.458000 13 58 0 0 0.003163 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170352 20170352 + RNA SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:20170352C>T ENST00000338912.5 - 0 2 AAGTCCAGCCCATGGTGAGGA 0.532000 29 102 0 0 0.001786 0 0 CASQ1 844 broad.mit.edu 37 1 160160609 160160609 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:160160609T>A ENST00000368079.3 + 1 325 c.50T>A c.(49-51)cTg>cAg p.L17Q CASQ1_ENST00000368078.3_Missense_Mutation_p.L23Q NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 23 Poly-Leu. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGTTGCTGCTGGTGCTAGGG 0.592000 9 38 0 0 0.000673 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762242 130762242 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:130762242C>G ENST00000392429.1 + 2 3053 c.675C>G c.(673-675)tcC>tcG p.S225S TMEM200A_ENST00000296978.3_Silent_p.S225S|TMEM200A_ENST00000545622.1_Silent_p.S225S NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 225 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TGGACAGCTCCGTGGAGGAGG 0.488000 6 44 0 0 0.001168 0 0 WDR11 55717 broad.mit.edu 37 10 122618278 122618278 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:122618278G>A ENST00000263461.6 + 3 568 c.322G>A c.(322-324)Gag>Aag p.E108K NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 108 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 AGCTCAGTGTGAGATCCAAGA 0.458000 6 41 0 0 0.001168 0 0 LRFN5 145581 broad.mit.edu 37 14 42356976 42356976 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:42356976G>T ENST00000554171.1 + 5 3580 c.1148G>T c.(1147-1149)aGt>aTt p.S383I LRFN5_ENST00000298119.4_Missense_Mutation_p.S383I|LRFN5_ENST00000554120.1_Missense_Mutation_p.S383I Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 383 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTACTAAATAGTACAAACCAT 0.393000 HNSCC(30;0.082) 10 56 1.58986e-06 3.38288e-06 0.000673 1 0 FUT9 10690 broad.mit.edu 37 6 96651056 96651056 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:96651056C>G ENST00000302103.5 + 3 351 c.25C>G c.(25-27)Ctt>Gtt p.L9V NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 9 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CAAAGGAATTCTTCGCCCATT 0.393000 15 69 0 0 0.004990 0 0 FRMD6 122786 broad.mit.edu 37 14 52194577 52194577 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:52194577C>G ENST00000395718.2 + 14 1960 c.1675C>G c.(1675-1677)Cag>Gag p.Q559E FRMD6_ENST00000356218.4_Missense_Mutation_p.Q559E|FRMD6_ENST00000553556.1_Missense_Mutation_p.Q209E|FRMD6_ENST00000554167.1_Missense_Mutation_p.Q490E|FRMD6_ENST00000344768.5_Missense_Mutation_p.Q567E NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 567 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GGACACTGCTCAGAGTTACAC 0.502000 11 45 0 0 0.000673 0 0 SFSWAP 6433 broad.mit.edu 37 12 132281832 132281832 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:132281832C>G ENST00000261674.4 + 16 2785 c.2644C>G c.(2644-2646)Ccc>Gcc p.P882A SFSWAP_ENST00000541286.1_Missense_Mutation_p.P934A|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 882 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 gcccgcggcccccgcggcccA 0.697000 15 60 0 0 0.004007 0 0 DIO3 1735 broad.mit.edu 37 14 102028010 102028010 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:102028010C>G ENST00000359323.3 + 1 323 c.99C>G c.(97-99)ctC>ctG p.L33L DIO3_ENST00000510508.4_Silent_p.L59L NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 33 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CCTTCATGCTCTGGCTTCTCG 0.657000 10 77 0 0 0.000673 0 0 AASDH 132949 broad.mit.edu 37 4 57221514 57221514 + Nonsense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:57221514G>A ENST00000205214.6 - 6 1117 c.937C>T c.(937-939)Cga>Tga p.R313* AASDH_ENST00000602986.1_Nonsense_Mutation_p.R160*|AASDH_ENST00000502617.1_Nonsense_Mutation_p.R313*|AASDH_ENST00000451613.1_Nonsense_Mutation_p.R313*|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Nonsense_Mutation_p.R213*|AASDH_ENST00000434343.2_5'UTR NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 313 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GCTAATACTCGAAGAGAAGTA 0.368000 10 59 0 0 0.001368 0 0 SLC6A5 9152 broad.mit.edu 37 11 20639323 20639323 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:20639323G>T ENST00000525748.1 + 7 1426 c.1153G>T c.(1153-1155)Ggg>Tgg p.G385W NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 385 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.G385W(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GATTTCTGCAGGGATTGAATA 0.502000 10 89 0.000978159 0.00196659 0.000978 1 0 PCDH11X 27328 broad.mit.edu 37 X 91134302 91134302 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:91134302C>G ENST00000361724.1 + 2 3908 c.3063C>G c.(3061-3063)ttC>ttG p.F1021L PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000406881.1_Intron NM_014522.1 NP_055337.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACACAACTTTCTAACTATTTT 0.383000 9 44 0 0 0.004482 0 0 USP6 9098 broad.mit.edu 37 17 5036229 5036229 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:5036229A>G ENST00000574788.1 + 13 2450 c.220A>G c.(220-222)Acg>Gcg p.T74A USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_3'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.T74A|USP6_ENST00000250066.6_Missense_Mutation_p.T74A P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 74 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GATGACACGAACGAGCAAGTG 0.532000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 3 153 0 0 0.004672 0 0 ZNF85 7639 broad.mit.edu 37 19 21132951 21132951 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:21132951G>A ENST00000601023.1 + 2 2100 c.1454G>A c.(1453-1455)gGc>gAc p.G485D ZNF85_ENST00000328178.8_Missense_Mutation_p.G544D|ZNF85_ENST00000345030.6_Missense_Mutation_p.G511D Q03923 ZNF85_HUMAN zinc finger protein 85 544 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GAAGAATGTGGCAAAGCCTTT 0.348000 5 41 0 0 0.000602 0 0 TSTA3 7264 broad.mit.edu 37 8 144696589 144696589 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:144696589C>T ENST00000425753.2 - 6 602 c.499G>A c.(499-501)Gct>Act p.A167T TSTA3_ENST00000529064.1_Missense_Mutation_p.A167T NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 167 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) GGGATGACAGCGGTGAAGGTG 0.662000 4 38 0 0 0.000602 0 0 KYNU 8942 broad.mit.edu 37 2 143712377 143712377 + Splice_Site SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:143712377A>G ENST00000264170.4 + 5 631 c.e5-1 KYNU_ENST00000409512.1_Splice_Site|KYNU_ENST00000375773.2_Splice_Site NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTATTTTACAGGAGCCAATG 0.303000 11 27 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 215821936 215821936 + Missense_Mutation SNP G G A rs139065588 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:215821936G>A ENST00000366943.2 - 66 14902 c.14516C>T c.(14515-14517)aCg>aTg p.T4839M USH2A_ENST00000307340.3_Missense_Mutation_p.T4839M O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4839 Fibronectin type-III 34. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T4839K(1)|p.T4839M(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAGGCCAGCGTCCCGATTTG 0.572000 HNSCC(13;0.011) 23 65 0 0 0.001882 0 0 TNXB 7148 broad.mit.edu 37 6 32036752 32036752 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:32036752C>G ENST00000375244.3 - 16 5950 c.5749G>C c.(5749-5751)Gat>Cat p.D1917H TNXB_ENST00000375247.2_Missense_Mutation_p.D1917H P22105 TENX_HUMAN tenascin XB 1999 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCGTCTCTATCTGTGTACTGG 0.552000 17 61 0 0 0.000958 0 0 TAAR6 319100 broad.mit.edu 37 6 132891511 132891511 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:132891511C>A ENST00000275198.1 + 1 51 c.51C>A c.(49-51)aaC>aaA p.N17K NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 17 plasma membrane G-protein coupled receptor activity p.N17K(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GCTACGCGAACGTGAATGGGT 0.493000 18 76 2.35188e-11 5.42633e-11 0.006122 1 0 SDHA 6389 broad.mit.edu 37 5 228381 228381 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:228381A>T ENST00000264932.6 + 6 818 c.703A>T c.(703-705)Atc>Ttc p.I235F SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 235 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCGTGGTGTCATCGCACTGTG 0.428000 Familial Paragangliomas 3 38 0 0 0.000248 0 0 COL25A1 84570 broad.mit.edu 37 4 109769944 109769944 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:109769944G>C ENST00000399132.1 - 27 1935 c.1405C>G c.(1405-1407)Cca>Gca p.P469A COL25A1_ENST00000399127.1_Missense_Mutation_p.P442A|COL25A1_ENST00000399126.1_Missense_Mutation_p.P469A NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 469 Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGGATTCCTGGAGATCCCTGC 0.348000 9 36 0 0 0.000673 0 0 LNP1 348801 broad.mit.edu 37 3 100170695 100170695 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:100170695C>A ENST00000383693.3 + 3 1569 c.289C>A c.(289-291)Cca>Aca p.P97T LNP1_ENST00000489752.1_Missense_Mutation_p.P110T NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 97 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 ATTCAAGGAGCCACTGGAATC 0.453000 15 59 3.45872e-05 7.16048e-05 0.004007 1 0 C16orf58 64755 broad.mit.edu 37 16 31502206 31502206 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:31502206C>T ENST00000327237.2 - 13 1396 c.1357G>A c.(1357-1359)Gat>Aat p.D453N C16orf58_ENST00000567994.1_Missense_Mutation_p.D408N|C16orf58_ENST00000570164.1_Missense_Mutation_p.D451N Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 453 D -> G (in Ref. 1; BAB14730). integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 CTCCACTCATCCACCTCTAGC 0.612000 20 71 0 0 0.002299 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130318901 130318901 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:130318901C>T ENST00000299164.2 + 1 33 c.33C>T c.(31-33)ttC>ttT p.F11F NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 11 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.F11F(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCCTGGCTTTCGCCGGGCGAA 0.711000 4 29 0 0 0.000602 0 0 NFE2L1 4779 broad.mit.edu 37 17 46135825 46135825 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:46135825G>T ENST00000362042.3 + 6 1757 c.1141G>T c.(1141-1143)Gag>Tag p.E381* NFE2L1_ENST00000582155.1_Nonsense_Mutation_p.E193*|NFE2L1_ENST00000583378.1_Nonsense_Mutation_p.E182*|NFE2L1_ENST00000585291.1_Nonsense_Mutation_p.E351*|NFE2L1_ENST00000361665.3_Nonsense_Mutation_p.E370*|NFE2L1_ENST00000536222.1_Nonsense_Mutation_p.E225*|NFE2L1_ENST00000357480.5_Nonsense_Mutation_p.E351* NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 381 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTCAGCCCCGAGGTGGAAAG 0.607000 32 85 9.78306e-22 2.40959e-21 0.001786 1 0 CSNK2A2 1459 broad.mit.edu 37 16 58198043 58198043 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr16:58198043C>A ENST00000262506.3 - 11 1168 c.985G>T c.(985-987)Gtg>Ttg p.V329L CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 329 axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TGCTCCTTCACCACAGGGTCT 0.547000 13 58 1.61879e-10 3.63635e-10 0.001368 1 0 TUBA3C 7278 broad.mit.edu 37 13 19748110 19748110 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:19748110C>A ENST00000400113.3 - 5 1350 c.1246G>T c.(1246-1248)Ggg>Tgg p.G416W NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 416 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GAGAACTCCCCCTCCTCCATG 0.602000 31 113 3.86903e-22 9.56024e-22 0.002836 1 0 EPB41L3 23136 broad.mit.edu 37 18 5397146 5397146 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:5397146C>G ENST00000341928.2 - 18 3092 c.2752G>C c.(2752-2754)Gag>Cag p.E918Q EPB41L3_ENST00000540638.2_Missense_Mutation_p.E696Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E215Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E749Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E223Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E918Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E696Q NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 918 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GCGGCTGTCTCTTCCTGTTCC 0.522000 6 136 0 0 0.001984 0 0 EYA4 2070 broad.mit.edu 37 6 133802716 133802716 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:133802716G>T ENST00000367895.5 + 12 1550 c.1086G>T c.(1084-1086)ccG>ccT p.P362P EYA4_ENST00000355167.3_Silent_p.P362P|EYA4_ENST00000355286.6_Silent_p.P339P|EYA4_ENST00000430974.2_Silent_p.P314P|EYA4_ENST00000452339.2_Silent_p.P308P|EYA4_ENST00000531901.1_Silent_p.P368P|EYA4_ENST00000431403.2_Silent_p.P362P|EYA4_ENST00000525849.1_Silent_p.P339P NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 362 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ATCCCTCCCCGCCTCCTGATA 0.448000 23 82 7.41877e-09 1.63298e-08 0.001882 1 0 OR4C15 81309 broad.mit.edu 37 11 55322833 55322833 + Missense_Mutation SNP A A T rs112163324 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:55322833A>T ENST00000314644.2 + 1 1051 c.1051A>T c.(1051-1053)Atg>Ttg p.M351L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AAAACAGGCCATGAGGAGAAT 0.333000 HNSCC(20;0.049) 9 55 0 0 0.004482 0 0 CTNNA2 1496 broad.mit.edu 37 2 80097016 80097016 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:80097016G>T ENST00000466387.1 + 9 1264 c.540G>T c.(538-540)ggG>ggT p.G180G CTNNA2_ENST00000496558.1_Silent_p.G180G|CTNNA2_ENST00000541047.1_Silent_p.G180G|CTNNA2_ENST00000540488.1_Silent_p.G180G|CTNNA2_ENST00000361291.4_Silent_p.G214G|CTNNA2_ENST00000402739.4_Silent_p.G180G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 180 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAGAGTTTGGGAAAGAGATGG 0.403000 8 52 5.4927e-09 1.21601e-08 0.004482 1 0 FCRL3 115352 broad.mit.edu 37 1 157667698 157667698 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:157667698G>T ENST00000368184.3 - 5 601 c.310C>A c.(310-312)Ctg>Atg p.L104M FCRL3_ENST00000368186.5_Missense_Mutation_p.L104M|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 104 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AAAGCCTGCAGGATCAGCCAG 0.468000 7 27 8.12818e-05 0.00016559 0.001984 1 0 ZNF536 9745 broad.mit.edu 37 19 31039948 31039948 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:31039948C>G ENST00000355537.3 + 4 3569 c.3422C>G c.(3421-3423)tCt>tGt p.S1141C NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AAGGCCCACTCTGAAGAGGAT 0.542000 6 38 0 0 0.001984 0 0 AMOT 154796 broad.mit.edu 37 X 112033890 112033890 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:112033890G>C ENST00000371959.3 - 7 2046 c.2047C>G c.(2047-2049)Cag>Gag p.Q683E AMOT_ENST00000371962.1_Missense_Mutation_p.Q451E|AMOT_ENST00000371958.1_Missense_Mutation_p.Q451E|AMOT_ENST00000304758.1_Missense_Mutation_p.Q274E|AMOT_ENST00000524145.1_Missense_Mutation_p.Q683E NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 683 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 AAATATTTCTGCTCCCACTTT 0.493000 39 168 0 0 0.004289 0 0 TTC14 151613 broad.mit.edu 37 3 180324283 180324283 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:180324283G>T ENST00000412756.2 + 9 1133 c.1064G>T c.(1063-1065)gGa>gTa p.G355V TTC14_ENST00000382584.4_Missense_Mutation_p.G355V|TTC14_ENST00000296015.4_Missense_Mutation_p.G355V NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 355 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GCGACAAAAGGAAGTTTGAAC 0.373000 11 135 5.50884e-06 1.15928e-05 0.001368 1 0 OR4C15 81309 broad.mit.edu 37 11 55322242 55322242 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:55322242C>A ENST00000314644.2 + 1 460 c.460C>A c.(460-462)Ctc>Atc p.L154I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CATGATGCAGCTCTTTGCTGA 0.478000 HNSCC(20;0.049) 29 110 1.2476e-16 3.02424e-16 0.001061 1 0 NTRK1 4914 broad.mit.edu 37 1 156849868 156849868 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:156849868C>T ENST00000368196.3 + 15 2226 c.2106C>T c.(2104-2106)agC>agT p.S702S NTRK1_ENST00000392302.2_Silent_p.S672S|NTRK1_ENST00000524377.1_Silent_p.S708S|NTRK1_ENST00000358660.3_Silent_p.S705S|NTRK1_ENST00000531606.1_3'UTR NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 708 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CCACCGAGAGCGACGTGTGGA 0.647000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 5 82 0 0 0.000602 0 0 PRKD1 5587 broad.mit.edu 37 14 30066700 30066700 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:30066700C>G ENST00000331968.5 - 16 2660 c.2431G>C c.(2431-2433)Gaa>Caa p.E811Q PRKD1_ENST00000415220.2_Missense_Mutation_p.E819Q NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 811 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ATATTACCTTCATGAGATATT 0.279000 12 66 0 0 0.001855 0 0 EEA1 8411 broad.mit.edu 37 12 93219970 93219970 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:93219970C>A ENST00000322349.8 - 13 1760 c.1496G>T c.(1495-1497)aGc>aTc p.S499I NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 499 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TGCCGTGGTGCTTTGCTGAAG 0.328000 5 27 0.00116845 0.00233689 0.001168 1 0 DEPDC5 9681 broad.mit.edu 37 22 32217595 32217595 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:32217595G>A ENST00000400246.1 + 23 2120 c.1978G>A c.(1978-1980)Gag>Aag p.E660K DEPDC5_ENST00000400248.1_Missense_Mutation_p.E660K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000382112.3_Missense_Mutation_p.E660K|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E660K|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000536766.1_Intron O75140 DEPD5_HUMAN DEP domain containing 5 660 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGAGCTGCTGGAGTTAGCATA 0.557000 24 217 0 0 0.004656 0 0 FAM222A 84915 broad.mit.edu 37 12 110205834 110205834 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:110205834G>T ENST00000538780.1 + 3 816 c.100G>T c.(100-102)Gcc>Tcc p.A34S FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34S NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 34 GGTGGCCAGCGCCATGCATTC 0.652000 7 52 0.00307968 0.00601794 0.003080 1 0 CLEC4E 26253 broad.mit.edu 37 12 8691819 8691819 + Nonsense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:8691819C>A ENST00000299663.3 - 3 379 c.214G>T c.(214-216)Gga>Tga p.G72* CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.G72*|CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.G72* NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 72 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) ATACCTGATCCATAATTGTAG 0.383000 16 108 2.23348e-06 4.73919e-06 0.004007 1 0 SIT1 27240 broad.mit.edu 37 9 35650548 35650548 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:35650548A>T ENST00000259608.3 - 2 273 c.187T>A c.(187-189)Ttg>Atg p.L63M SIT1_ENST00000474403.1_Intron NM_014450.2 NP_055265.1 Q9Y3P8 SIT1_HUMAN signaling threshold regulating transmembrane adaptor 1 63 regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 9 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CACTGGGACAAGTGTGCAGCC 0.597000 58 69 0 0 0.003610 0 0 HARBI1 283254 broad.mit.edu 37 11 46637351 46637351 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:46637351C>G ENST00000326737.3 - 2 684 c.437G>C c.(436-438)gGg>gCg p.G146A NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 146 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 GTCAACCACCCCCATCACCCC 0.512000 46 195 0 0 0.003610 0 0 FZR1 51343 broad.mit.edu 37 19 3527705 3527705 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:3527705G>A ENST00000441788.2 + 7 783 c.547G>A c.(547-549)Gag>Aag p.E183K FZR1_ENST00000313639.8_Intron|FZR1_ENST00000395095.3_Missense_Mutation_p.E183K NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 183 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGACGCGCCCGAGCTGCAGGA 0.632000 6 42 0 0 0.001168 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780146 91780146 + Nonsense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:91780146G>A ENST00000389857.6 - 15 2100 c.2014C>T c.(2014-2016)Cag>Tag p.Q672* NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 672 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTCTCCAGCTGCAGGCCCTGG 0.627000 6 15 0 0 0.001984 0 0 MOCOS 55034 broad.mit.edu 37 18 33828964 33828964 + Splice_Site SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:33828964G>T ENST00000261326.5 + 10 2060 c.e10+1 NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GTGCTGACAGGTGAGACTCTG 0.473000 7 21 8.12818e-05 0.00016559 0.001984 1 0 FAM69C 125704 broad.mit.edu 37 18 72103843 72103843 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:72103843G>C ENST00000343998.6 - 4 1161 c.1153C>G c.(1153-1155)Cct>Gct p.P385A FAM69C_ENST00000400291.2_Missense_Mutation_p.P86A NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C 385 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(2)|ovary(2) 5 GGGACCCCAGGGTCTGCACAT 0.587000 6 21 0 0 0.001168 0 0 KRTAP20-1 337975 broad.mit.edu 37 21 31988891 31988891 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr21:31988891G>T ENST00000334664.2 + 1 142 c.118G>T c.(118-120)Ggc>Tgc p.G40C NM_181615.1 NP_853646.1 Q3LI63 KR201_HUMAN keratin associated protein 20-1 40 intermediate filament breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1) 7 CTATGGAAATGGCTACTACTG 0.463000 11 42 1.08611e-07 2.35682e-07 0.000978 1 0 NPAS3 64067 broad.mit.edu 37 14 33684490 33684490 + Silent SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:33684490T>A ENST00000346562.2 + 2 227 c.153T>A c.(151-153)ccT>ccA p.P51P NPAS3_ENST00000356141.4_Silent_p.P81P|NPAS3_ENST00000341321.4_Silent_p.P81P|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Silent_p.P88P|NPAS3_ENST00000548645.1_Silent_p.P51P|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Silent_p.P51P NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TGCCTCTTCCTGCAGCCATTA 0.493000 17 103 0 0 0.000958 0 0 TMEM241 85019 broad.mit.edu 37 18 20979546 20979546 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr18:20979546C>G ENST00000383233.3 - 4 315 c.263G>C c.(262-264)aGa>aCa p.R88T TMEM241_ENST00000542162.1_Missense_Mutation_p.R88T|TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000399707.1_Missense_Mutation_p.R62T NM_032933.4 NP_116322.3 Q24JQ0 CR045_HUMAN transmembrane protein 241 88 integral to membrane GGACAATGCTCTGGACCCAGC 0.443000 8 69 0 0 0.000443 0 0 TNN 63923 broad.mit.edu 37 1 175086104 175086104 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:175086104G>T ENST00000239462.4 + 10 2262 c.2149G>T c.(2149-2151)Gac>Tac p.D717Y NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 717 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.D717N(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGGTGACCGACCGGGTGAC 0.512000 25 119 2.44723e-14 5.83981e-14 0.004656 1 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216847 26216847 + Missense_Mutation SNP G G C rs149681157 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:26216847G>C ENST00000244601.3 - 1 25 c.25C>G c.(25-27)Cct>Gct p.P9A NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 9 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) TTCGGAGCAGGAGCTGACTTA 0.483000 11 67 0 0 0.003163 0 0 KIAA0825 285600 broad.mit.edu 37 5 93856022 93856022 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:93856022C>G ENST00000513200.3 - 4 973 c.901G>C c.(901-903)Gaa>Caa p.E301Q KIAA0825_ENST00000427991.2_Missense_Mutation_p.E301Q|KIAA0825_ENST00000312498.7_Missense_Mutation_p.E301Q|KIAA0825_ENST00000329378.7_Missense_Mutation_p.E301Q NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 301 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 ACAGCATTTTCTCTGAACTGC 0.363000 9 18 0 0 0.004482 0 0 TRPM3 80036 broad.mit.edu 37 9 73167807 73167807 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:73167807C>T ENST00000377110.2 - 23 3734 c.3491G>A c.(3490-3492)cGa>cAa p.R1164Q TRPM3_ENST00000396285.1_Missense_Mutation_p.R1023Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1026Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1013Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1036Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1168Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1191Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1023Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1036Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1023Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1164Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1026Q NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1189 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TTTCCTCCATCGGCAGCACAG 0.527000 24 222 0 0 0.003330 0 0 XIST 7503 broad.mit.edu 37 X 73067568 73067568 + RNA SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:73067568T>C ENST00000429829.1 - 0 5020 NR_001564.2 GAGTCATGGATAATTAGAAAT 0.328000 13 25 0 0 0.001368 0 0 FRRS1L 23732 broad.mit.edu 37 9 111903626 111903626 + Nonsense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:111903626G>A ENST00000374581.3 - 4 858 c.859C>T c.(859-861)Cag>Tag p.Q287* NM_014334.2 NP_055149.2 Q9P0K9 CI004_HUMAN ferric-chelate reductase 1-like 287 integral to membrane AGCTTACCCTGAATGGCTGGA 0.433000 5 34 0 0 0.001168 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022574 97022574 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:97022574C>T ENST00000216277.8 + 19 2048 c.1828C>T c.(1828-1830)Cct>Tct p.P610S PAPOLA_ENST00000392990.2_Missense_Mutation_p.P610S NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 610 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ACCACCAAAGCCTACGGTCTC 0.418000 22 86 0 0 0.001882 0 0 CRB1 23418 broad.mit.edu 37 1 197403914 197403914 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:197403914C>A ENST00000367397.1 + 5 1922 c.1064C>A c.(1063-1065)aCc>aAc p.T355N CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.T455N|CRB1_ENST00000367400.3_Missense_Mutation_p.T974N|CRB1_ENST00000535699.1_Missense_Mutation_p.T950N|CRB1_ENST00000367399.2_Missense_Mutation_p.T862N P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 974 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.T974S(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGAGAACTCACCAATATCACA 0.333000 8 42 0.00307968 0.00601794 0.003080 1 0 ZSWIM5 57643 broad.mit.edu 37 1 45516821 45516821 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:45516821G>C ENST00000359600.5 - 5 1562 c.1357C>G c.(1357-1359)Ctg>Gtg p.L453V NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 453 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CCATCCTCCAGGGGACAGACA 0.517000 35 56 0 0 0.003755 0 0 OR6K6 128371 broad.mit.edu 37 1 158724934 158724934 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:158724934T>G ENST00000368144.2 + 1 425 c.329T>G c.(328-330)cTg>cGg p.L110R NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCCAAGATGCTGTCCTGCCTA 0.512000 35 113 0 0 0.005524 0 0 RELN 5649 broad.mit.edu 37 7 103237037 103237037 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:103237037C>A ENST00000424685.2 - 25 3564 c.3405G>T c.(3403-3405)caG>caT p.Q1135H RELN_ENST00000343529.5_Missense_Mutation_p.Q1135H|RELN_ENST00000428762.1_Missense_Mutation_p.Q1135H P78509 RELN_HUMAN reelin 1135 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCCGCCTATCTGGATGTAGA 0.502000 24 102 4.72057e-08 1.03019e-07 0.003954 1 0 OR8K3 219473 broad.mit.edu 37 11 56086330 56086330 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:56086330C>A ENST00000312711.1 + 1 548 c.548C>A c.(547-549)cCt>cAt p.P183H NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GACAGTCTCCCTTTGTTACCT 0.328000 18 77 5.35267e-07 1.14529e-06 0.000958 1 0 NOX5 79400 broad.mit.edu 37 15 69335123 69335123 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:69335123G>C ENST00000260364.5 + 11 1872 c.1571G>C c.(1570-1572)aGa>aCa p.R524T NOX5_ENST00000388866.3_Missense_Mutation_p.R542T|NOX5_ENST00000448182.3_Missense_Mutation_p.R496T|NOX5_ENST00000530406.2_Missense_Mutation_p.R514T|NOX5_ENST00000455873.3_Missense_Mutation_p.R507T|RP11-809H16.4_ENST00000559495.1_RNA Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 542 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GTGACAATGAGAAAGAGTCAA 0.552000 19 17 0 0 0.000958 0 0 TTBK2 146057 broad.mit.edu 37 15 43067454 43067454 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr15:43067454G>A ENST00000267890.6 - 13 1985 c.1877C>T c.(1876-1878)cCt>cTt p.P626L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 626 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGCAGCAGTAGGAGGACCCTC 0.488000 63 67 0 0 0.003610 0 0 ETV6 2120 broad.mit.edu 37 12 12022820 12022820 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:12022820G>T ENST00000396373.4 + 5 1200 c.926G>T c.(925-927)cGg>cTg p.R309L NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 309 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTCTCTCATCGGGAAGACCTG 0.577000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 23 98 1.55469e-16 3.75677e-16 0.003330 1 0 CFHR2 3080 broad.mit.edu 37 1 196920114 196920114 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:196920114G>T ENST00000367415.4 + 3 500 c.386G>T c.(385-387)tGt>tTt p.C129F CFHR2_ENST00000367421.3_Missense_Mutation_p.C129F|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 129 Sushi 2. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AACATTTCATGTGTAGAACGG 0.383000 7 51 0.00448238 0.00873665 0.004482 1 0 WDR64 128025 broad.mit.edu 37 1 241953918 241953918 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:241953918C>G ENST00000366552.2 + 24 3094 c.2887C>G c.(2887-2889)Cta>Gta p.L963V WDR64_ENST00000437684.2_Missense_Mutation_p.L796V NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 963 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTCAGTGTCTCTACTTTTCAA 0.353000 26 84 0 0 0.001061 0 0 LILRB5 10990 broad.mit.edu 37 19 54756392 54756392 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:54756392C>T ENST00000450632.1 - 10 1545 c.1468G>A c.(1468-1470)Ggg>Agg p.G490R LILRB5_ENST00000345866.6_Missense_Mutation_p.G399R|LILRB5_ENST00000449561.2_Missense_Mutation_p.G499R|LILRB5_ENST00000316219.5_Missense_Mutation_p.G498R O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 498 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCCGCAGCCCCTGCAGGACGG 0.607000 8 76 0 0 0.003080 0 0 NTN1 9423 broad.mit.edu 37 17 9143248 9143248 + Missense_Mutation SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:9143248A>G ENST00000173229.2 + 7 1885 c.1778A>G c.(1777-1779)cAg>cGg p.Q593R NTN1_ENST00000538852.1_Missense_Mutation_p.Q593R|NTN1_ENST00000546090.1_Missense_Mutation_p.Q593R NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 593 NTR. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 CGCAAGTTCCAGCAGCGTGAG 0.721000 3 13 0 0 0.004672 0 0 C12orf40 283461 broad.mit.edu 37 12 40076630 40076630 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:40076630C>A ENST00000324616.5 + 8 1058 c.904C>A c.(904-906)Caa>Aaa p.Q302K C12orf40_ENST00000405531.3_Missense_Mutation_p.Q302K|C12orf40_ENST00000398716.1_Missense_Mutation_p.Q225K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 302 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TTTTGTTAGTCAAAATATGAT 0.323000 18 53 1.99824e-07 4.31169e-07 0.004990 1 0 WSCD2 9671 broad.mit.edu 37 12 108589738 108589738 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:108589738C>T ENST00000332082.4 + 3 947 c.129C>T c.(127-129)ccC>ccT p.P43P WSCD2_ENST00000547525.1_Silent_p.P43P|WSCD2_ENST00000261400.3_Silent_p.P43P|WSCD2_ENST00000549903.1_Silent_p.P43P Q2TBF2 WSCD2_HUMAN WSC domain containing 2 43 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGGGCCAGCCCGCTGTCTCGG 0.612000 30 135 0 0 0.001061 0 0 BPIFB6 128859 broad.mit.edu 37 20 31620830 31620830 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:31620830G>A ENST00000349552.1 + 2 138 c.138G>A c.(136-138)aaG>aaA p.K46K NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 46 extracellular region lipid binding TCCTGGAGAAGATGGCAGCCG 0.557000 16 87 0 0 0.001216 0 0 AGAP5 729092 broad.mit.edu 37 10 75457410 75457410 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:75457410C>T ENST00000443782.2 - 1 229 c.104G>A c.(103-105)gGa>gAa p.G35E RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.G35E A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 35 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 GTCCCCAGCTCCTGCCTCATA 0.582000 21 152 0 0 0.002299 0 0 PROX1 5629 broad.mit.edu 37 1 214170122 214170122 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:214170122G>C ENST00000366958.4 + 2 852 c.244G>C c.(244-246)Gat>Cat p.D82H PROX1_ENST00000435016.1_Missense_Mutation_p.D82H|PROX1_ENST00000261454.4_Missense_Mutation_p.D82H|PROX1_ENST00000498508.2_Missense_Mutation_p.D82H NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 82 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTCGTATGAAGATGCCATGAT 0.483000 4 83 0 0 0.000248 0 0 SLC7A3 84889 broad.mit.edu 37 X 70146774 70146774 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:70146774G>A ENST00000374299.3 - 9 1548 c.1404C>T c.(1402-1404)atC>atT p.I468I SLC7A3_ENST00000298085.4_Silent_p.I468I Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 468 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GTGGAGTGGGGATGGAGTTGA 0.483000 6 51 0 0 0.001984 0 0 SSTR1 6751 broad.mit.edu 37 14 38679680 38679680 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:38679680C>A ENST00000267377.2 + 3 1703 c.1086C>A c.(1084-1086)gcC>gcA p.A362A NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 362 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) AGAGCCGTGCCTACAGTGTGG 0.612000 18 75 3.51602e-12 8.26156e-12 0.001216 1 0 STT3A 3703 broad.mit.edu 37 11 125484217 125484217 + Splice_Site SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:125484217A>G ENST00000392708.4 + 15 1830 c.e15-1 STT3A_ENST00000529196.1_Splice_Site|STT3A_ENST00000531491.1_Splice_Site NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTGTTTTTCCAGGCAATGGCG 0.453000 19 222 0 0 0.001216 0 0 TEP1 7011 broad.mit.edu 37 14 20849805 20849805 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:20849805G>A ENST00000262715.5 - 31 4505 c.4465C>T c.(4465-4467)Ctg>Ttg p.L1489L TEP1_ENST00000556935.1_Silent_p.L1381L|TEP1_ENST00000545983.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1489 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGGAGGCACAGCCGGGCACCA 0.602000 17 92 0 0 0.006122 0 0 SYNE1 23345 broad.mit.edu 37 6 152554980 152554980 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:152554980C>T ENST00000367255.5 - 112 21249 c.20648G>A c.(20647-20649)cGc>cAc p.R6883H SYNE1_ENST00000341594.5_Missense_Mutation_p.R6495H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6812H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1407H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6812H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6883H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6883 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTATCAATGCGCGACAGCTC 0.512000 HNSCC(10;0.0054) 10 39 0 0 0.000673 0 0 FLG 2312 broad.mit.edu 37 1 152279054 152279054 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:152279054C>T ENST00000368799.1 - 3 8343 c.8308G>A c.(8308-8310)Gca>Aca p.A2770T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2770 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCTTGTGCCTGCTCATGG 0.587000 Ichthyosis 25 833 0 0 0.003330 0 0 BCAN 63827 broad.mit.edu 37 1 156621474 156621474 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:156621474G>A ENST00000329117.4 + 7 1626 c.1290G>A c.(1288-1290)acG>acA p.T430T BCAN_ENST00000361588.5_Silent_p.T430T|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 430 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCTAGGACGCTCCTAGGTA 0.557000 16 80 0 0 0.003163 0 0 ZNF45 7596 broad.mit.edu 37 19 44417888 44417888 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:44417888C>A ENST00000269973.5 - 10 2790 c.1700G>T c.(1699-1701)cGg>cTg p.R567L RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.R567L NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 567 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 ATTGGAGGCCCGACAGAAGCC 0.517000 17 85 3.41278e-10 7.59939e-10 0.004990 1 0 DZANK1 55184 broad.mit.edu 37 20 18393348 18393348 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:18393348C>G ENST00000357236.4 - 14 1691 c.1032G>C c.(1030-1032)caG>caC p.Q344H DZANK1_ENST00000262547.5_Missense_Mutation_p.Q458H|DZANK1_ENST00000377630.5_Missense_Mutation_p.Q291H|DZANK1_ENST00000329494.5_Missense_Mutation_p.Q460H|DZANK1_ENST00000487128.1_5'UTR Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 285 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 TCTCCTGCCTCTGCTTTTGAG 0.517000 19 174 0 0 0.003330 0 0 BIRC6 57448 broad.mit.edu 37 2 32667279 32667279 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:32667279C>T ENST00000421745.2 + 18 4225 c.4091C>T c.(4090-4092)tCa>tTa p.S1364L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1364 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGAGTTCATTCAAATGGACCC 0.388000 6 43 0 0 0.001168 0 0 FAM135B 51059 broad.mit.edu 37 8 139165260 139165260 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:139165260C>T ENST00000395297.1 - 13 1628 c.1458G>A c.(1456-1458)gtG>gtA p.V486V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 486 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTTGTGTGGCCACATTCTCAC 0.393000 HNSCC(54;0.14) 10 78 0 0 0.001368 0 0 OGFR 11054 broad.mit.edu 37 20 61444725 61444725 + Silent SNP G G A rs74520364 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr20:61444725G>A ENST00000370461.1 + 5 3879 c.1602G>A c.(1600-1602)ccG>ccA p.P534P OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P586P Q9NZT2 OGFR_HUMAN opioid growth factor receptor 586 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GCCCCAGCCCGGCAGGACCTA 0.741000 3 7 0 0 0.004672 0 0 TRIM45 80263 broad.mit.edu 37 1 117656090 117656090 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:117656090C>G ENST00000256649.4 - 5 2011 c.1485G>C c.(1483-1485)gtG>gtC p.V495V TRIM45_ENST00000369461.3_Silent_p.V438V|TRIM45_ENST00000369464.3_Silent_p.V477V NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 495 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TCCTCACCATCACAGTGAATG 0.552000 8 14 0 0 0.003080 0 0 HYAL4 23553 broad.mit.edu 37 7 123516942 123516942 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:123516942C>T ENST00000223026.4 + 5 1817 c.1179C>T c.(1177-1179)aaC>aaT p.N393N HYAL4_ENST00000476325.1_Silent_p.N393N NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 393 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 AGATGTGGAACGCGCCCAGTT 0.507000 10 60 0 0 0.000443 0 0 MSH3 4437 broad.mit.edu 37 5 79966002 79966002 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:79966002C>G ENST00000265081.6 + 4 746 c.666C>G c.(664-666)aaC>aaG p.N222K NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 222 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) AATCAGCTAACAAACGGTCCA 0.378000 Mismatch excision repair (MMR) 8 22 0 0 0.003080 0 0 POU1F1 5449 broad.mit.edu 37 3 87325510 87325510 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:87325510G>A ENST00000350375.2 - 1 227 c.103C>T c.(103-105)Cta>Tta p.L35L POU1F1_ENST00000560656.1_Silent_p.L35L|POU1F1_ENST00000344265.3_Silent_p.L35L NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 35 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) GAGACTGGTAGACACTCGGCA 0.453000 14 64 0 0 0.003163 0 0 PCDH10 57575 broad.mit.edu 37 4 134084409 134084409 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:134084409G>T ENST00000264360.4 + 4 3901 c.3075G>T c.(3073-3075)acG>acT p.T1025T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 1025 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGACTAATACGCGAGCGCCTT 0.483000 14 134 6.72482e-11 1.53768e-10 0.003163 1 0 FBXL13 222235 broad.mit.edu 37 7 102665637 102665637 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:102665637C>A ENST00000393772.2 - 6 794 c.368G>T c.(367-369)aGg>aTg p.R123M FBXL13_ENST00000436908.1_Missense_Mutation_p.R123M|FBXL13_ENST00000456695.1_Missense_Mutation_p.R123M|FBXL13_ENST00000379306.3_Missense_Mutation_p.R123M|FBXL13_ENST00000379305.3_Missense_Mutation_p.R123M|FBXL13_ENST00000455112.2_Missense_Mutation_p.R123M|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.R123M|FBXL13_ENST00000313221.4_Missense_Mutation_p.R123M Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 123 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GAGTATTAACCTATTTTTCCA 0.318000 8 19 0.000442599 0.000894541 0.000443 1 0 FSCB 84075 broad.mit.edu 37 14 44975712 44975712 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:44975712C>A ENST00000340446.4 - 1 770 c.479G>T c.(478-480)aGt>aTt p.S160I NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 160 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TTCTGATTCACTAAAGTATGT 0.418000 29 157 1.13719e-10 2.56958e-10 0.001512 1 0 GRIN2B 2904 broad.mit.edu 37 12 14018815 14018815 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:14018815G>T ENST00000279593.3 - 2 537 c.328C>A c.(328-330)Cag>Aag p.Q110K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 110 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCGAGGATCTGGGCGATGGCT 0.542000 23 86 5.26018e-13 1.24361e-12 0.001882 1 0 IGSF22 283284 broad.mit.edu 37 11 18741305 18741305 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:18741305C>A ENST00000513874.1 - 7 793 c.654G>T c.(652-654)ctG>ctT p.L218L RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 218 Lys-rich. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GCTTCCTGAGCAGCCCCCGAA 0.517000 19 158 1.01871e-10 2.30868e-10 0.001216 1 0 FLT3 2322 broad.mit.edu 37 13 28589793 28589793 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:28589793C>A ENST00000380982.4 - 21 2677 c.2596G>T c.(2596-2598)Ggc>Tgc p.G866C FLT3_ENST00000537084.1_Missense_Mutation_p.G822C|FLT3_ENST00000241453.7_Missense_Mutation_p.G863C P36888 FLT3_HUMAN fms-related tyrosine kinase 3 863 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GTGTAGATGCCTTCAAACAGG 0.483000 """Mis, O""" """AML, ALL""" 18 50 1.01871e-10 2.30868e-10 0.001216 1 0 CAMK2D 817 broad.mit.edu 37 4 114376956 114376956 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:114376956C>T ENST00000454265.2 - 20 2388 c.1530G>A c.(1528-1530)ggG>ggA p.G510G CAMK2D_ENST00000515496.1_Silent_p.G496G|CAMK2D_ENST00000514328.1_Silent_p.G484G|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000418639.2_Silent_p.G499G|CAMK2D_ENST00000511664.1_Silent_p.G519G|CAMK2D_ENST00000394526.2_Silent_p.G496G|CAMK2D_ENST00000429180.1_Silent_p.G505G|CAMK2D_ENST00000342666.5_Silent_p.G485G Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 485 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) AGTTTTCTTTCCCATTTGGAA 0.423000 6 36 0 0 0.001168 0 0 COL14A1 7373 broad.mit.edu 37 8 121296005 121296005 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:121296005G>T ENST00000297848.3 + 32 4225 c.3955G>T c.(3955-3957)Gtt>Ttt p.V1319F COL14A1_ENST00000247781.3_Missense_Mutation_p.V1224F|COL14A1_ENST00000309791.4_Missense_Mutation_p.V1319F NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1319 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ATTGGTTGGGGTTATTTTAGA 0.358000 13 52 0.00136819 0.00272217 0.001368 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26431134 26431134 + RNA SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:26431134C>G ENST00000466808.2 + 0 1447 AGCTTCGCCTCAGGGAAACAT 0.507000 9 96 0 0 0.004482 0 0 WAPAL 23063 broad.mit.edu 37 10 88232004 88232004 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:88232004C>G ENST00000298767.5 - 7 2463 c.1991G>C c.(1990-1992)gGc>gCc p.G664A NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 664 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GCTCTTTAAGCCACTTAACAA 0.343000 4 41 0 0 0.000248 0 0 SPATA7 55812 broad.mit.edu 37 14 88904701 88904701 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:88904701G>C ENST00000556553.1 + 12 2198 c.1639G>C c.(1639-1641)Gac>Cac p.D547H SPATA7_ENST00000356583.5_Missense_Mutation_p.D547H|SPATA7_ENST00000045347.7_Missense_Mutation_p.D438H|SPATA7_ENST00000393545.4_Missense_Mutation_p.D579H Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 579 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 CAATAATCATGACATGGAGTT 0.383000 7 28 0 0 0.004482 0 0 F5 2153 broad.mit.edu 37 1 169511664 169511664 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:169511664A>T ENST00000367796.3 - 13 2880 c.2679T>A c.(2677-2679)caT>caA p.H893Q F5_ENST00000367797.3_Missense_Mutation_p.H888Q P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 888 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCCCAACTTTATGTGCTAGTA 0.473000 32 134 0 0 0.001786 0 0 RSPH3 83861 broad.mit.edu 37 6 159420840 159420840 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:159420840C>G ENST00000252655.1 - 1 358 c.169G>C c.(169-171)Gac>Cac p.D57H RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000297262.3_Missense_Mutation_p.D57H|RSPH3_ENST00000367069.2_5'UTR NM_031924.4 NP_114130.3 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 57 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) AGGGTTCTGTCTGGGGGCGGG 0.682000 13 66 0 0 0.004007 0 0 OR2D2 120776 broad.mit.edu 37 11 6913477 6913477 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:6913477C>A ENST00000299459.2 - 1 353 c.255G>T c.(253-255)ctG>ctT p.L85L NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTCTGGAAAGCAGGTGGACTA 0.468000 9 52 0.000274275 0.000555806 0.004482 1 0 ITIH6 347365 broad.mit.edu 37 X 54823474 54823474 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:54823474G>A ENST00000218436.6 - 2 187 c.158C>T c.(157-159)aCc>aTc p.T53I NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 53 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GGTGACCAAGGTGTGGGCATA 0.473000 11 34 0 0 0.000673 0 0 ATP13A3 79572 broad.mit.edu 37 3 194169313 194169313 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:194169313C>T ENST00000439040.1 - 12 1814 c.1023G>A c.(1021-1023)gtG>gtA p.V341V ATP13A3_ENST00000256031.4_Silent_p.V341V Q9H7F0 AT133_HUMAN ATPase type 13A3 341 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTATTCCTTTCACATCCACTG 0.333000 11 53 0 0 0.000673 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830679 7830679 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:7830679G>C ENST00000327325.5 + 4 488 c.370G>C c.(370-372)Ggt>Cgt p.G124R CLEC4M_ENST00000334806.5_Missense_Mutation_p.G96R|CLEC4M_ENST00000359059.5_Missense_Mutation_p.G103R|CLEC4M_ENST00000597522.1_Missense_Mutation_p.G124R|CLEC4M_ENST00000596363.1_Missense_Mutation_p.G96R|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G103R|CLEC4M_ENST00000248228.4_Splice_Site_p.V124_splice|CLEC4M_ENST00000595496.1_Missense_Mutation_p.G103R|CLEC4M_ENST00000357361.2_Missense_Mutation_p.G124R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G112R NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 124 7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 GGCTGCAGTGGGTGAGTTGCC 0.562000 26 153 0 0 0.002445 0 0 LRRC46 90506 broad.mit.edu 37 17 45914142 45914142 + Missense_Mutation SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:45914142C>A ENST00000269025.4 + 8 985 c.622C>A c.(622-624)Ctg>Atg p.L208M NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 208 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 GGAGCAGGAGCTGAGCAGGCA 0.687000 5 41 0.00116845 0.00233689 0.001168 1 0 MTMR3 8897 broad.mit.edu 37 22 30412531 30412531 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:30412531G>A ENST00000333027.3 + 15 1846 c.1518G>A c.(1516-1518)caG>caA p.Q506Q MTMR3_ENST00000406629.1_Silent_p.Q506Q|MTMR3_ENST00000401950.2_Silent_p.Q506Q|MTMR3_ENST00000351488.3_Silent_p.Q506Q|MTMR3_ENST00000323630.5_Silent_p.Q370Q|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 506 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AACTGGTGCAGCATACCTATT 0.478000 39 120 0 0 0.002522 0 0 HOOK3 84376 broad.mit.edu 37 8 42868217 42868217 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:42868217A>T ENST00000307602.4 + 20 2063 c.1863A>T c.(1861-1863)aaA>aaT p.K621N HOOK3_ENST00000524839.1_3'UTR NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 621 Required for association with Golgi.|Required for interaction with MSR1. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TAGATCCTAAACAGAATCAAG 0.338000 T RET papillary thyroid 6 22 0 0 0.001168 0 0 ABCA7 10347 broad.mit.edu 37 19 1043352 1043352 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:1043352G>C ENST00000263094.6 + 9 1041 c.810G>C c.(808-810)ctG>ctC p.L270L ABCA7_ENST00000435683.2_Silent_p.L132L|ABCA7_ENST00000433129.1_Silent_p.L270L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 270 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity p.L270L(1) NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) GCTCGGAGCTGATTGGAGCCC 0.627000 12 79 0 0 0.001855 0 0 BAI3 577 broad.mit.edu 37 6 70040462 70040462 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:70040462C>T ENST00000370598.1 + 23 3921 c.3100C>T c.(3100-3102)Ctg>Ttg p.L1034L BAI3_ENST00000238918.8_Silent_p.L240L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1034 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CGCTGTTGTCCTGGTAAACAT 0.353000 5 26 0 0 0.001984 0 0 OR10A3 26496 broad.mit.edu 37 11 7960962 7960962 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:7960962C>T ENST00000360759.3 - 1 179 c.106G>A c.(106-108)Gtg>Atg p.V36M NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGGTCACCACATAAATAACT 0.458000 16 43 0 0 0.004007 0 0 NOS2 4843 broad.mit.edu 37 17 26107912 26107912 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:26107912C>T ENST00000313735.6 - 9 1118 c.885G>A c.(883-885)tgG>tgA p.W295* NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 295 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ACTTGGGCTTCCAGCCCAGGT 0.627000 11 39 0 0 0.000978 0 0 GPR142 350383 broad.mit.edu 37 17 72368159 72368159 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:72368159C>T ENST00000335666.4 + 4 857 c.809C>T c.(808-810)tCg>tTg p.S270L NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 270 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CGGGCCGCCTCGTCCCCAGGC 0.657000 5 24 0 0 0.001168 0 0 DENND1A 57706 broad.mit.edu 37 9 126429310 126429310 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:126429310C>G ENST00000373624.2 - 8 703 c.502G>C c.(502-504)Gag>Cag p.E168Q DENND1A_ENST00000394215.2_Missense_Mutation_p.E138Q|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Missense_Mutation_p.E136Q|DENND1A_ENST00000394219.3_Missense_Mutation_p.E136Q|DENND1A_ENST00000373620.3_Missense_Mutation_p.E168Q NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 168 DENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CTTACATTCTCAGGTATGCTG 0.299000 5 31 0 0 0.000602 0 0 GPM6A 2823 broad.mit.edu 37 4 176573010 176573010 + Silent SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:176573010A>G ENST00000280187.7 - 5 561 c.516T>C c.(514-516)aaT>aaC p.N172N GPM6A_ENST00000393658.2_Silent_p.N172N|GPM6A_ENST00000506894.1_Silent_p.N161N|GPM6A_ENST00000515090.1_Silent_p.N165N NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 172 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CCAAGCAGAGATTTGCTCCCT 0.463000 10 74 0 0 0.000978 0 0 COL22A1 169044 broad.mit.edu 37 8 139614357 139614357 + Splice_Site SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:139614357C>A ENST00000303045.6 - 60 4632 c.e60+1 COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTCCACTCACCCTTTCTCCT 0.572000 HNSCC(7;0.00092) 20 61 5.35267e-07 1.14529e-06 0.000958 1 0 SLC30A8 169026 broad.mit.edu 37 8 118183329 118183329 + Missense_Mutation SNP G G T rs139489847 TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:118183329G>T ENST00000427715.2 + 10 1173 c.739G>T c.(739-741)Ggg>Tgg p.G247W SLC30A8_ENST00000519688.1_Missense_Mutation_p.G247W|SLC30A8_ENST00000456015.2_Missense_Mutation_p.G296W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.G247W NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 296 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.G296R(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGCAGTCGACGGGGTGCTGTC 0.448000 14 85 1.49906e-05 3.12883e-05 0.002450 1 0 FNDC5 252995 broad.mit.edu 37 1 33330273 33330273 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:33330273G>T ENST00000373471.3 - 5 691 c.400C>A c.(400-402)Cgc>Agc p.R134S FNDC5_ENST00000481487.1_5'UTR NM_001171940.1|NM_153756.2 NP_001165411.1|NP_715637.1 Q8NAU1 FNDC5_HUMAN fibronectin type III domain containing 5 193 integral to membrane|peroxisomal membrane breast(1)|large_intestine(1)|lung(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCTTGCTGCGGAGAAGCCCC 0.577000 11 38 3.07112e-06 6.48065e-06 0.000978 1 0 FRMPD4 9758 broad.mit.edu 37 X 12736348 12736348 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:12736348G>A ENST00000380682.1 + 16 3909 c.3403G>A c.(3403-3405)Gat>Aat p.D1135N NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1135 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGAGCTCCTGATGGAGAAAC 0.512000 34 273 0 0 0.001287 0 0 EEA1 8411 broad.mit.edu 37 12 93196189 93196189 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:93196189T>C ENST00000322349.8 - 19 2925 c.2661A>G c.(2659-2661)atA>atG p.I887M NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 887 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CCAAGTCTAATATAGCGGCTT 0.289000 4 37 0 0 0.000602 0 0 RP1 6101 broad.mit.edu 37 8 55533682 55533682 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:55533682G>T ENST00000220676.1 + 2 304 c.156G>T c.(154-156)agG>agT p.R52S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 52 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCGGGGTCAGGGTGGTGGTCA 0.557000 15 65 7.93312e-07 1.69269e-06 0.002450 1 0 MPPED1 758 broad.mit.edu 37 22 43821067 43821067 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:43821067G>C ENST00000417669.1 + 2 520 c.76G>C c.(76-78)Gca>Cca p.A26P MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A26P|MPPED1_ENST00000443721.1_Missense_Mutation_p.A26P|MPPED1_ENST00000538182.1_Missense_Mutation_p.A59P O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 26 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CCTGGGCATGGCATTCTCCCA 0.697000 12 22 0 0 0.000978 0 0 PCDH1 5097 broad.mit.edu 37 5 141233941 141233941 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:141233941A>T ENST00000287008.3 - 5 3527 c.3380T>A c.(3379-3381)tTt>tAt p.F1127Y PCDH1_ENST00000503492.1_3'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) AGAGTGGCCAAACTCACTGCA 0.587000 8 21 0 0 0.003080 0 0 MARCH1 55016 broad.mit.edu 37 4 164466767 164466767 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:164466767G>C ENST00000503008.1 - 7 1528 c.552C>G c.(550-552)atC>atG p.I184M MARCH1_ENST00000339875.5_Missense_Mutation_p.I167M|MARCH1_ENST00000514618.1_Missense_Mutation_p.I440M|MARCH1_ENST00000274056.7_Missense_Mutation_p.I184M NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 184 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGCCTTGCTTGATTTCCTCCG 0.438000 3 39 0 0 0.004672 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99124010 99124010 + Silent SNP A A G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:99124010A>G ENST00000394170.2 + 6 1598 c.1347A>G c.(1345-1347)ctA>ctG p.L449L ZKSCAN5_ENST00000451158.1_Silent_p.L449L|ZKSCAN5_ENST00000326775.5_Silent_p.L449L NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 449 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCGAACACCTAAAACGCCACT 0.502000 54 173 0 0 0.003610 0 0 AP3M2 10947 broad.mit.edu 37 8 42024827 42024827 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:42024827G>A ENST00000518421.1 + 8 1240 c.949G>A c.(949-951)Ggg>Agg p.G317R AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Missense_Mutation_p.G317R|AP3M2_ENST00000396926.3_Missense_Mutation_p.G317R NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 317 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GATGCCCAAGGGGGTCCTGAA 0.522000 11 47 0 0 0.001368 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498200 73498200 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:73498200C>A ENST00000321617.3 - 18 3541 c.2955G>T c.(2953-2955)acG>acT p.T985T CASKIN2_ENST00000433559.2_Silent_p.T903T NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 985 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGTCTGATTCCGTGAGGTTGA 0.667000 17 71 4.96729e-08 1.08095e-07 0.001216 1 0 MUC16 94025 broad.mit.edu 37 19 9056573 9056573 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:9056573G>A ENST00000397910.4 - 3 31076 c.30873C>T c.(30871-30873)acC>acT p.T10291T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10293 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAACTCCAGTGGTGGCAAATG 0.517000 10 92 0 0 0.001368 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580175 35580175 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr1:35580175G>C ENST00000373330.1 + 11 2918 c.2744G>C c.(2743-2745)gGa>gCa p.G915A ZMYM1_ENST00000359858.4_Missense_Mutation_p.G915A|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 915 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCTGGGATGGAACAGAGGAA 0.294000 4 19 0 0 0.000248 0 0 FBXW7 55294 broad.mit.edu 37 4 153247311 153247311 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:153247311C>T ENST00000281708.4 - 10 2720 c.1491G>A c.(1489-1491)ttG>ttA p.L497L FBXW7_ENST00000393956.3_Silent_p.L321L|FBXW7_ENST00000603548.1_Silent_p.L497L|FBXW7_ENST00000263981.5_Silent_p.L417L|FBXW7_ENST00000603841.1_Silent_p.L497L|FBXW7_ENST00000296555.5_Silent_p.L379L NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 497 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CATGACCCATCAAAACATGTA 0.453000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 5 74 0 0 0.001984 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:14262129A>C ENST00000340736.6 - 24 4278 c.3981T>G c.(3979-3981)ggT>ggG p.G1327G CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCCGGTCAGCACCCCCGGGCC 0.716000 6 8 0 0 0.001984 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762243 130762243 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:130762243G>T ENST00000392429.1 + 2 3054 c.676G>T c.(676-678)Gtg>Ttg p.V226L TMEM200A_ENST00000296978.3_Missense_Mutation_p.V226L|TMEM200A_ENST00000545622.1_Missense_Mutation_p.V226L NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 226 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GGACAGCTCCGTGGAGGAGGA 0.488000 6 44 3.59834e-05 7.42945e-05 0.001168 1 0 PARD3 56288 broad.mit.edu 37 10 34420469 34420469 + Silent SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:34420469C>G ENST00000374789.3 - 23 3796 c.3471G>C c.(3469-3471)ctG>ctC p.L1157L PARD3_ENST00000374794.3_Silent_p.L1045L|PARD3_ENST00000374790.3_Silent_p.L1097L|PARD3_ENST00000350537.4_Silent_p.L1111L|PARD3_ENST00000545693.1_Silent_p.L1141L|PARD3_ENST00000374788.3_Silent_p.L1154L|PARD3_ENST00000545260.1_Silent_p.L1067L|PARD3_ENST00000346874.4_Silent_p.L1120L NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1157 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ATTCTTGCCTCAGACGCTGTA 0.433000 9 62 0 0 0.004482 0 0 CTNND2 1501 broad.mit.edu 37 5 11236806 11236806 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:11236806G>T ENST00000304623.8 - 10 1947 c.1758C>A c.(1756-1758)gcC>gcA p.A586A CTNND2_ENST00000511377.1_Silent_p.A495A|CTNND2_ENST00000458100.2_Silent_p.A153A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A249A|CTNND2_ENST00000359640.2_Silent_p.A586A NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 586 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CACTGACCTCGGCTTTAATTT 0.443000 27 115 2.79863e-10 6.25001e-10 0.004656 1 0 SPTBN2 6712 broad.mit.edu 37 11 66454925 66454925 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:66454925T>C ENST00000533211.1 - 35 7026 c.6695A>G c.(6694-6696)gAg>gGg p.E2232G SPTBN2_ENST00000529997.1_Missense_Mutation_p.E2232G|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E2232G O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2232 PH. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCCGAAGGCCTCCATCTCCTG 0.642000 3 93 0 0 0.004672 0 0 OS9 10956 broad.mit.edu 37 12 58090152 58090152 + Missense_Mutation SNP T T G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr12:58090152T>G ENST00000315970.7 + 5 616 c.575T>G c.(574-576)gTt>gGt p.V192G OS9_ENST00000552285.1_Missense_Mutation_p.V192G|OS9_ENST00000257966.8_Missense_Mutation_p.V192G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.V192G|OS9_ENST00000413095.2_Intron|OS9_ENST00000389142.5_Missense_Mutation_p.V192G|OS9_ENST00000551035.1_Intron|OS9_ENST00000439210.2_Missense_Mutation_p.V133G|OS9_ENST00000435406.2_Intron NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 192 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GAGGCCGAGGTTCGGGTGAGT 0.592000 12 52 0 0 0.000978 0 0 JRK 8629 broad.mit.edu 37 8 143747266 143747266 + RNA SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr8:143747266G>C ENST00000507178.2 - 0 544 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cgccttgttggagtccgagct 0.652000 4 19 0 0 0.000602 0 0 ABCC8 6833 broad.mit.edu 37 11 17482165 17482165 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:17482165G>T ENST00000302539.4 - 6 1006 c.881C>A c.(880-882)gCc>gAc p.A294D ABCC8_ENST00000389817.3_Missense_Mutation_p.A294D NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 294 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTCCCGAAGGCATGGCTGAG 0.642000 14 73 3.45872e-05 7.16048e-05 0.004007 1 0 LILRB1 10859 broad.mit.edu 37 19 55148286 55148286 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:55148286C>T ENST00000396331.1 + 16 2267 c.1910C>T c.(1909-1911)tCt>tTt p.S637F LILRB1_ENST00000396332.4_Missense_Mutation_p.S638F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S621F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S639F|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Missense_Mutation_p.S621F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S637F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S639F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S638F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S688F|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.S637F NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 637 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GAAGGGCCCTCTCCAGCTGTG 0.642000 HNSCC(37;0.09) 17 47 0 0 0.004990 0 0 AIF1L 83543 broad.mit.edu 37 9 133993218 133993218 + Nonsense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:133993218C>G ENST00000372309.3 + 6 510 c.356C>G c.(355-357)tCa>tGa p.S119* AIF1L_ENST00000372297.2_Nonsense_Mutation_p.S37*|AIF1L_ENST00000247291.3_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372298.1_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372312.3_Nonsense_Mutation_p.S98*|AIF1L_ENST00000372300.1_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372301.2_Nonsense_Mutation_p.S37*|AIF1L_ENST00000372302.1_Nonsense_Mutation_p.S85* NM_001185095.1 NP_001172024.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like 93 actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding lung(2) 2 AAGATGATCTCAGAGGTGACA 0.507000 8 69 0 0 0.000443 0 0 CFLAR 8837 broad.mit.edu 37 2 202005138 202005138 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:202005138C>T ENST00000309955.2 + 5 1097 c.582C>T c.(580-582)ctC>ctT p.L194L CFLAR_ENST00000423241.2_Silent_p.L194L|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000457277.1_Silent_p.L194L|CFLAR_ENST00000494258.1_Silent_p.L98L|CFLAR_ENST00000342795.5_Silent_p.L194L|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000479953.2_Silent_p.L98L|CFLAR_ENST00000341222.6_Silent_p.L194L|CFLAR_ENST00000341582.6_Silent_p.L194L|CFLAR_ENST00000440180.1_Silent_p.L194L|CFLAR_ENST00000355558.4_Silent_p.L194L|CFLAR_ENST00000340870.5_Silent_p.L194L|CFLAR_ENST00000443227.1_Silent_p.L98L NM_003879.5 NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 194 Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding p.L194L(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 AAAAGAGTCTCAAGGATCCTT 0.388000 13 38 0 0 0.001855 0 0 ZNF639 51193 broad.mit.edu 37 3 179051458 179051458 + Nonsense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:179051458C>T ENST00000326361.3 + 7 1151 c.706C>T c.(706-708)Cga>Tga p.R236* ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Nonsense_Mutation_p.R236*|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.R236* NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 236 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AAATGTGTGTCGAGTATGCAA 0.353000 18 71 0 0 0.000958 0 0 SMARCC1 6599 broad.mit.edu 37 3 47712147 47712147 + Splice_Site SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:47712147C>A ENST00000254480.5 - 19 2019 c.e19+1 SMARCC1_ENST00000425518.1_Splice_Site NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) AATCTGCTTACCTCCAGGAGT 0.388000 5 20 0.00198382 0.00390644 0.001984 1 0 ELF2 1998 broad.mit.edu 37 4 139980635 139980635 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:139980635C>T ENST00000394235.2 - 10 1750 c.1248G>A c.(1246-1248)gcG>gcA p.A416A ELF2_ENST00000265495.4_Silent_p.A416A|ELF2_ENST00000379550.1_Silent_p.A428A|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Silent_p.A356A|ELF2_ENST00000358635.3_Silent_p.A368A|ELF2_ENST00000379549.2_Silent_p.A339A NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 428 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A416A(1) endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) TTGGAGAGGTCGCTGTTGTTG 0.428000 12 34 0 0 0.000978 0 0 ANK3 288 broad.mit.edu 37 10 61815535 61815535 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:61815535C>G ENST00000280772.1 - 42 13137 c.12946G>C c.(12946-12948)Gaa>Caa p.E4316Q ANK3_ENST00000373827.2_Missense_Mutation_p.E1800Q|ANK3_ENST00000355288.2_Missense_Mutation_p.E940Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1807Q NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4316 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAGTCTCTTCTATTATAAGC 0.438000 6 218 0 0 0.003080 0 0 POLRMT 5442 broad.mit.edu 37 19 619032 619032 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:619032C>T ENST00000588649.2 - 15 3316 c.3232G>A c.(3232-3234)Gtc>Atc p.V1078I NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 1078 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GGCTGGATGACGGGGACGCCC 0.632000 4 19 0 0 0.000248 0 0 TRGC1 6966 broad.mit.edu 37 7 38305125 38305125 + RNA SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr7:38305125G>T ENST00000443402.2 - 0 154 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 CCAGAATCGTGTTGCTCTTCT 0.418000 20 183 6.12954e-19 1.50007e-18 0.004656 1 0 MIPOL1 145282 broad.mit.edu 37 14 37754564 37754564 + Nonsense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:37754564G>T ENST00000327441.7 + 8 1001 c.535G>T c.(535-537)Gaa>Taa p.E179* MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.E148*|MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.E179*|MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.E148*|MIPOL1_ENST00000536774.1_5'UTR|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.E179*|MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.E148* NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 179 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) GGAACGTGATGAAGCTGTTAT 0.378000 14 79 1.02788e-11 2.39319e-11 0.004990 1 0 NALCN 259232 broad.mit.edu 37 13 101747987 101747987 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr13:101747987C>G ENST00000251127.6 - 28 3288 c.3207G>C c.(3205-3207)aaG>aaC p.K1069N NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1069 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AATTTAAGTTCTTTGACACAC 0.358000 9 47 0 0 0.004482 0 0 FSCB 84075 broad.mit.edu 37 14 44975773 44975773 + Missense_Mutation SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:44975773A>T ENST00000340446.4 - 1 709 c.418T>A c.(418-420)Tgg>Agg p.W140R NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 140 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) ATCATGGTCCAGTATCCTGTA 0.423000 39 164 0 0 0.001951 0 0 OR4D11 219986 broad.mit.edu 37 11 59271774 59271774 + Silent SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:59271774C>T ENST00000313253.1 + 1 726 c.726C>T c.(724-726)tcC>tcT p.S242S NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTTGCACCTCCCACATCACTG 0.547000 28 160 0 0 0.005443 0 0 ABCD4 5826 broad.mit.edu 37 14 74761852 74761852 + Splice_Site SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:74761852T>A ENST00000356924.4 - 7 861 c.719_splice c.e7+1 p.R240_splice ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Splice_Site_p.S198_splice NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 240 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) CAGACTCACCTGTAGAAAGCA 0.562000 17 54 0 0 0.001216 0 0 HEATR5B 54497 broad.mit.edu 37 2 37217854 37217854 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:37217854G>C ENST00000233099.5 - 34 5729 c.5634C>G c.(5632-5634)gtC>gtG p.V1878V HEATR5B_ENST00000354531.2_Silent_p.V1789V NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1878 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GTAATGACTGGACTCCTATTA 0.373000 10 47 0 0 0.000443 0 0 ZNF565 147929 broad.mit.edu 37 19 36673999 36673999 + Missense_Mutation SNP C C T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:36673999C>T ENST00000355114.5 - 5 1715 c.989G>A c.(988-990)cGt>cAt p.R330H ZNF565_ENST00000304116.5_Missense_Mutation_p.R290H|ZNF565_ENST00000392173.2_Missense_Mutation_p.R290H Q8N9K5 ZN565_HUMAN zinc finger protein 565 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R290P(1) large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TTGGGAGCCACGAATGAAAGC 0.502000 14 81 0 0 0.003163 0 0 BCL6B 255877 broad.mit.edu 37 17 6930932 6930932 + Silent SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:6930932G>T ENST00000293805.5 + 9 1526 c.1434G>T c.(1432-1434)ggG>ggT p.G478G NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 478 nucleus zinc ion binding skin(1) 1 TTCTCGGGGGGCCCTAGCTGA 0.622000 11 48 1.61879e-10 3.63635e-10 0.001368 1 0 ARAP3 64411 broad.mit.edu 37 5 141033762 141033762 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:141033762C>G ENST00000239440.4 - 33 4455 c.4390G>C c.(4390-4392)Gag>Cag p.E1464Q ARAP3_ENST00000508305.1_Missense_Mutation_p.E1295Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.E1113Q NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1464 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGAGGGGGCTCAGGTGGCCTC 0.612000 15 48 0 0 0.002450 0 0 PI4KA 5297 broad.mit.edu 37 22 21064999 21064999 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:21064999T>C ENST00000255882.6 - 52 6157 c.6071A>G c.(6070-6072)tAc>tGc p.Y2024C PI4KA_ENST00000414196.3_Missense_Mutation_p.Y776C|PI4KA_ENST00000572273.1_Missense_Mutation_p.Y1966C NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1966 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CACAGCCAGGTAGCCTCGGAC 0.587000 40 171 0 0 0.002852 0 0 ALAD 210 broad.mit.edu 37 9 116155760 116155760 + Missense_Mutation SNP T T C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:116155760T>C ENST00000409155.3 - 2 276 c.80A>G c.(79-81)aAt>aGt p.N27S ALAD_ENST00000277315.5_Missense_Mutation_p.N27S NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 27 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) GTTGGAGGCATTGAGGGTGGT 0.617000 11 39 0 0 0.001368 0 0 ATP10D 57205 broad.mit.edu 37 4 47559897 47559897 + Missense_Mutation SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:47559897G>C ENST00000273859.3 + 12 2310 c.2041G>C c.(2041-2043)Gag>Cag p.E681Q AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 681 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CCAGGTGTGTGAGAGCCCCCA 0.552000 6 44 0 0 0.001984 0 0 FLT4 2324 broad.mit.edu 37 5 180057697 180057697 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:180057697G>A ENST00000261937.6 - 3 336 c.258C>T c.(256-258)ggC>ggT p.G86G FLT4_ENST00000502649.1_Silent_p.G86G|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.G86G NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 86 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGCGTCTGTGCCCTCGCAGT 0.632000 16 51 0 0 0.004007 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463595 130463595 + Silent SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr3:130463595G>A ENST00000356763.3 - 2 1025 c.468C>T c.(466-468)gtC>gtT p.V156V NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 156 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TCCAACTGGTGACCATCACAT 0.443000 14 84 0 0 0.002450 0 0 SOD3 6649 broad.mit.edu 37 4 24801160 24801160 + Missense_Mutation SNP G G T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:24801160G>T ENST00000382120.3 + 2 222 c.17G>T c.(16-18)tGt>tTt p.C6F NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 6 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) GCGCTACTGTGTTCCTGCCTG 0.662000 3 13 0.004672 0.00908313 0.004672 1 0 DMD 1756 broad.mit.edu 37 X 31496268 31496268 + Silent SNP G G C TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chrX:31496268G>C ENST00000357033.4 - 59 9098 c.8892C>G c.(8890-8892)ggC>ggG p.G2964G DMD_ENST00000378707.3_Silent_p.G504G|DMD_ENST00000343523.2_Silent_p.G504G|DMD_ENST00000378677.2_Silent_p.G2960G|DMD_ENST00000359836.1_Silent_p.G504G|DMD_ENST00000541735.1_Silent_p.G504G|DMD_ENST00000474231.1_Silent_p.G504G NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2964 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGAGGAGATCGCCCACGGGCT 0.532000 4 28 0 0 0.000602 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530635 80530635 + Missense_Mutation SNP C C G TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr2:80530635C>G ENST00000295057.3 - 2 966 c.310G>C c.(310-312)Gtg>Ctg p.V104L CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V104L|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 104 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 TCCCCCTGCACGGAGCAGATG 0.597000 HNSCC(69;0.2) 22 110 0 0 0.002299 0 0 MYO3A 53904 broad.mit.edu 37 10 26414348 26414348 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr10:26414348G>A ENST00000265944.5 + 19 2091 c.1925G>A c.(1924-1926)cGg>cAg p.R642Q MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 642 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.R642L(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTTTGCATTCGGGCAGATGAG 0.418000 66 40 0 0 0.003610 0 0 LDB2 9079 broad.mit.edu 37 4 16760821 16760821 + Missense_Mutation SNP T T A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr4:16760821T>A ENST00000502640.1 - 2 343 c.195A>T c.(193-195)ttA>ttT p.L65F LDB2_ENST00000441778.2_Missense_Mutation_p.L65F|LDB2_ENST00000515064.1_Missense_Mutation_p.L65F|LDB2_ENST00000304523.5_Missense_Mutation_p.L65F O43679 LDB2_HUMAN LIM domain binding 2 65 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 ATGAAAGGGTTAATGTGGCGT 0.388000 11 47 0 0 0.000673 0 0 NLRP14 338323 broad.mit.edu 37 11 7064307 7064307 + Missense_Mutation SNP G G A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:7064307G>A ENST00000299481.4 + 4 1396 c.1050G>A c.(1048-1050)atG>atA p.M350I NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 350 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGTGGGCCATGAAAGTATTCA 0.428000 15 87 0 0 0.003163 0 0 AQP11 282679 broad.mit.edu 37 11 77301379 77301379 + Silent SNP C C A TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr11:77301379C>A ENST00000313578.3 + 1 700 c.342C>A c.(340-342)ccC>ccA p.P114P AQP11_ENST00000528638.1_Intron NM_173039.2 NP_766627.1 Q8NBQ7 AQP11_HUMAN aquaporin 11 114 cell surface|integral to membrane transporter activity kidney(2)|large_intestine(1)|lung(5) 8 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GCATGTCCCCCGAGACGGGTG 0.607000 15 83 1.45105e-14 3.47345e-14 0.006122 1 0 GPR150 285601 broad.mit.edu 37 5 94957182 94957182 + Frame_Shift_Del DEL T T - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr5:94957182delT ENST00000380007.2 + 1 1401 c.1203delT c.(1201-1203)ccfs p.P401fs NM_199243.1 NP_954713.1 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 401 integral to membrane|plasma membrane G-protein coupled receptor activity lung(2) 2 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) GGCCCCACCCTCATTATCACC 0.726 2 4 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38834618 38834618 + Frame_Shift_Del DEL T T - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr6:38834618delT ENST00000359357.3 + 45 6262 c.6008delT c.(6007-6009)ctfs p.L2003fs DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L2220fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTTACGTTCTTTACAAACTC 0.303 10 18 --- --- --- --- TLE1 7088 broad.mit.edu 37 9 84199390 84199390 + Frame_Shift_Del DEL C C - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr9:84199390delC ENST00000376499.3 - 19 3242 c.2178delG c.(2176-2178)cgfs p.R726fs NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 726 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 CATAGGGGGTCCGCCAAGCAT 0.453 15 87 --- --- --- --- SSTR1 6751 broad.mit.edu 37 14 38679129 38679130 + Frame_Shift_Ins INS - - T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr14:38679129_38679130insT ENST00000267377.2 + 3 1152_1153 c.535_536insT c.(535-537)gggfs p.G179fs NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 179 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GGTAGTAAACCTGGGCGTGTGG 0.644 10 49 --- --- --- --- FAM222B 55731 broad.mit.edu 37 17 27085655 27085655 + Frame_Shift_Del DEL G G - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr17:27085655delG ENST00000341217.5 - 3 1537 c.1322delC c.(1321-1323)cafs p.P441fs FAM222B_ENST00000452648.3_Frame_Shift_Del_p.P441fs|FAM222B_ENST00000581407.1_Frame_Shift_Del_p.P441fs|FAM222B_ENST00000582266.1_3'UTR NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 441 GTAGGCCAATGGGGCTGCCAT 0.612 11 30 --- --- --- --- ZNF431 170959 broad.mit.edu 37 19 21365549 21365549 + Frame_Shift_Del DEL C C - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr19:21365549delC ENST00000311048.7 + 5 587 c.443delC c.(442-444)tcfs p.S148fs ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 AGAAAAGGCTCCGCAAGTGTA 0.358 9 55 --- --- --- --- XKR3 150165 broad.mit.edu 37 22 17288660 17288660 + Frame_Shift_Del DEL A A - TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68201be8-a1a9-4c78-ad99-3c767ca8366b a676c12d-d9aa-4f59-8d74-c0d2684b3631 g.chr22:17288660delA ENST00000331428.5 - 2 406 c.304delT c.(304-306)ggfs p.W102fs NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 102 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGAATGTGCCAAAAAAGTAAT 0.333 18 55 --- --- --- ---