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 CEP152 22995 broad.mit.edu 37 15 49030868 49030868 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:49030868A>G ENST00000380950.2 - 27 4898 c.4711T>C c.(4711-4713)Tgc>Cgc p.C1571R CEP152_ENST00000399334.3_Missense_Mutation_p.C1515R NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1515 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.C1515R(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CAGCCCAAGCAGTCACTAAGG 0.453000 7 30 0 0 0.047766 0 0 NLGN2 57555 broad.mit.edu 37 17 7317981 7317981 + Splice_Site SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:7317981G>T ENST00000302926.2 + 4 731 c.e4-1 NLGN2_ENST00000575301.1_Splice_Site NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity p.?(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) TCTACTCCCAGGTTTTCTCAG 0.607000 68 120 1.25089e-41 2.11798e-41 0.048971 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98469537 98469537 + Missense_Mutation SNP C C T rs146527410 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:98469537C>T ENST00000339364.5 - 2 336 c.217G>A c.(217-219)Gcg>Acg p.A73T NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 73 cytoplasm|plasma membrane p.A73T(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ACCAGCTCCGCGGACAGCAGC 0.652000 53 89 0 0 0.048971 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33577084 33577084 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:33577084G>T ENST00000504830.1 - 19 3382 c.3047C>A c.(3046-3048)cCa>cAa p.P1016Q ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P931Q|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1016 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P1016Q(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TAGTGTTGGTGGGTTTTTTCC 0.537000 HNSCC(64;0.19) 31 158 4.02929e-09 4.89427e-09 0.045705 1 0 PLG 5340 broad.mit.edu 37 6 161135878 161135878 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:161135878C>A ENST00000308192.9 + 6 663 c.600C>A c.(598-600)acC>acA p.T200T NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 200 Kringle 2. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.T200T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTTCCAAGACCATGTCTGGAC 0.463000 26 45 1.06801e-11 1.38377e-11 0.041601 1 0 USH2A 7399 broad.mit.edu 37 1 215848813 215848813 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:215848813G>T ENST00000366943.2 - 63 12826 c.12440C>A c.(12439-12441)cCt>cAt p.P4147H USH2A_ENST00000307340.3_Missense_Mutation_p.P4147H O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4147 Fibronectin type-III 26. 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.P4147H(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) TGTCCACAGAGGCTGAGGCGC 0.572000 HNSCC(13;0.011) 12 61 5.50884e-06 6.14077e-06 0.013537 1 0 THBS2 7058 broad.mit.edu 37 6 169648860 169648860 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:169648860C>A ENST00000366787.3 - 4 510 c.261G>T c.(259-261)acG>acT p.T87T NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 87 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.T87T(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TGAGCTGGGCCGTGAGGAAGA 0.617000 40 134 4.00102e-26 6.20991e-26 0.025465 1 0 ZNF227 7770 broad.mit.edu 37 19 44740634 44740634 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:44740634G>T ENST00000313040.7 + 6 2256 c.2051G>T c.(2050-2052)gGa>gTa p.G684V ZNF227_ENST00000391961.2_Missense_Mutation_p.G633V|ZNF227_ENST00000589005.1_Missense_Mutation_p.G633V|ZNF235_ENST00000589799.1_3'UTR NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G684V(1) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GGCCACACTGGAGAAAAACCT 0.468000 20 59 6.44725e-10 8.00534e-10 0.014323 1 0 KMT2C 58508 broad.mit.edu 37 7 151962157 151962157 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:151962157G>C ENST00000355193.2 - 8 1368 c.1150C>G c.(1150-1152)Caa>Gaa p.Q384E KMT2C_ENST00000262189.6_Missense_Mutation_p.Q384E lysine (K)-specific methyltransferase 2C p.Q384E(2) TCAGGACATTGCCAACCTGCA 0.428000 18 288 0 0 0.030593 0 0 NEB 4703 broad.mit.edu 37 2 152522052 152522052 + Splice_Site SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:152522052T>A ENST00000397345.3 - 42 5235 c.5031_splice c.e42-1 p.N1678_splice NEB_ENST00000427231.2_Splice_Site_p.N1678_splice|NEB_ENST00000603639.1_Splice_Site_p.N1678_splice|NEB_ENST00000409198.1_Splice_Site_p.N1678_splice|NEB_ENST00000172853.10_Splice_Site_p.N1678_splice|NEB_ENST00000604864.1_Splice_Site_p.N1678_splice NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1678 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.N1678I(2) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTGTACAGATTCTTTACAAT 0.398000 9 15 0 0 0.008291 0 0 ZNF646 9726 broad.mit.edu 37 16 31092791 31092791 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31092791C>T ENST00000394979.2 + 1 5569 c.5146C>T c.(5146-5148)Ctg>Ttg p.L1716L ZNF646_ENST00000300850.5_Silent_p.L1716L O15015 ZN646_HUMAN zinc finger protein 646 1716 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L1716L(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TCTCCCTAACCTGCTGTCTCT 0.632000 47 355 0 0 0.048971 0 0 UNC79 57578 broad.mit.edu 37 14 94088409 94088409 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:94088409A>G ENST00000553484.1 + 31 5050 c.4896A>G c.(4894-4896)ctA>ctG p.L1632L UNC79_ENST00000393151.2_Silent_p.L1610L|UNC79_ENST00000256339.4_Silent_p.L1433L|UNC79_ENST00000555664.1_Silent_p.L1610L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1610 integral to membrane p.L1433L(1)|p.L1632L(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGATAGATCTATCCTCAGATT 0.463000 49 96 0 0 0.048971 0 0 LGR5 8549 broad.mit.edu 37 12 71978333 71978333 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:71978333G>T ENST00000266674.5 + 18 2854 c.2543G>T c.(2542-2544)aGc>aTc p.S848I LGR5_ENST00000540815.2_Missense_Mutation_p.S824I|LGR5_ENST00000536515.1_Missense_Mutation_p.S776I O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 848 integral to plasma membrane protein-hormone receptor activity p.S848I(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AAACACCCAAGCTTGATGTCA 0.448000 36 112 1.06647e-15 1.47589e-15 0.064281 1 0 ZNF23 7571 broad.mit.edu 37 16 71512893 71512893 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:71512893C>G ENST00000561908.1 - 4 551 c.49G>C c.(49-51)Gag>Cag p.E17Q ZNF19_ENST00000565637.1_5'UTR|ZNF19_ENST00000567225.1_Missense_Mutation_p.E17Q|ZNF19_ENST00000288177.5_Missense_Mutation_p.E17Q|ZNF19_ENST00000564230.1_Missense_Mutation_p.E17Q|ZNF19_ENST00000565100.2_Intron p.E17Q(1) GCCACATCCTCGAAGGTCACC 0.562000 21 150 0 0 0.021523 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 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) 4 12 0 0 0.021553 0 0 ANGPT1 284 broad.mit.edu 37 8 108264099 108264099 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:108264099C>T ENST00000520734.1 - 8 1166 c.881G>A c.(880-882)cGa>cAa p.R294Q ANGPT1_ENST00000520052.1_Missense_Mutation_p.R293Q|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 494 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding p.R494Q(1) NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) ATCTAAAGGTCGAATCATCAT 0.413000 14 79 0 0 0.020292 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072057 17072057 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072057C>G ENST00000359963.3 - 1 1643 c.1384G>C c.(1384-1386)Gac>Cac p.D462H NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 462 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.D462H(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) GCCATCACGTCTGAGACAGCT 0.527000 71 196 0 0 0.048971 0 0 SLTM 79811 broad.mit.edu 37 15 59191867 59191867 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:59191867C>A ENST00000380516.2 - 7 946 c.859G>T c.(859-861)Gca>Tca p.A287S SLTM_ENST00000536328.1_Intron NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 287 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding p.A287S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGGCTCTGTGCAATGGCGTCC 0.453000 10 93 0.000978159 0.00103366 0.010729 1 0 BCAS3 54828 broad.mit.edu 37 17 59445833 59445833 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:59445833G>T ENST00000589222.1 + 23 2639 c.2571G>T c.(2569-2571)cgG>cgT p.R857R BCAS3_ENST00000390652.5_Silent_p.R872R|BCAS3_ENST00000588874.1_Silent_p.R628R|BCAS3_ENST00000588462.1_Silent_p.R872R|BCAS3_ENST00000408905.3_Silent_p.R857R|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000585744.1_Silent_p.R643R|BCAS3_ENST00000407086.3_Silent_p.R857R|BCAS3_ENST00000585812.1_3'UTR Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 872 nucleus p.R872R(1) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CACCTAGCCGGGACGTCGTGG 0.612000 10 47 3.99206e-14 5.40742e-14 0.043863 1 0 L3MBTL2 83746 broad.mit.edu 37 22 41615532 41615532 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:41615532A>T ENST00000216237.5 + 6 868 c.710A>T c.(709-711)cAg>cTg p.Q237L NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 237 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding p.Q237L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTGTCATCCAGACAGCAGGT 0.552000 18 32 0 0 0.014323 0 0 GAN 8139 broad.mit.edu 37 16 81388292 81388292 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:81388292G>T ENST00000248272.3 + 3 727 c.565G>T c.(565-567)Gtt>Ttt p.V189F NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 189 BACK. cell death cytoplasm|neurofilament protein binding p.V189F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GAAGTTAAACGTTGGCAATGA 0.383000 83 63 4.64247e-43 7.9509e-43 0.048971 1 0 CEL 1056 broad.mit.edu 37 9 135947032 135947032 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:135947032C>A ENST00000372080.4 + 11 2168 c.2152C>A c.(2152-2154)Ccg>Acg p.P718T CEL_ENST00000351304.7_Missense_Mutation_p.P649T NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 715 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity p.P718T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCCCCCGTGCCGCCCACGGG 0.766000 3 15 1.23904e-05 1.36753e-05 0.014758 1 0 PARVB 29780 broad.mit.edu 37 22 44527413 44527413 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:44527413C>T ENST00000338758.6 + 5 486 c.423C>T c.(421-423)tcC>tcT p.S141S PARVB_ENST00000404989.1_Silent_p.S104S|PARVB_ENST00000406477.3_Silent_p.S174S NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 141 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding p.S174S(1) NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) TGACACAGTCCGAAATAGGGC 0.577000 7 50 0 0 0.038147 0 0 GIP 2695 broad.mit.edu 37 17 47041781 47041781 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:47041781G>A ENST00000357424.2 - 3 248 c.148C>T c.(148-150)Ccc>Tcc p.P50S NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 50 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity p.P50S(1) lung(2)|skin(1)|stomach(1) 4 GCGTACCTGGGGCCTCGAGGT 0.567000 22 177 0 0 0.014323 0 0 ZNF527 84503 broad.mit.edu 37 19 37879423 37879423 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:37879423A>G ENST00000436120.2 + 5 579 c.472A>G c.(472-474)Act>Gct p.T158A ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T158A(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAATCTCTACTGGGAAAAG 0.398000 33 44 0 0 0.027894 0 0 RIMS2 9699 broad.mit.edu 37 8 104955095 104955095 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:104955095C>A ENST00000507740.1 + 11 2254 c.2018C>A c.(2017-2019)cCt>cAt p.P673H RIMS2_ENST00000436393.2_Missense_Mutation_p.P659H|RIMS2_ENST00000262231.10_Missense_Mutation_p.P720H|RIMS2_ENST00000406091.3_Missense_Mutation_p.P881H NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 943 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.P673H(2)|p.P881H(1)|p.P948H(1)|p.P659H(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTTCCCCACCCTTCTCCATAT 0.373000 HNSCC(12;0.0054) 19 20 2.21704e-12 2.92335e-12 0.016522 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 12 0.000157383 0.000168302 0.038147 1 0 APOBEC3F 200316 broad.mit.edu 37 22 39445556 39445556 + Silent SNP C C G rs34578066 by1000genomes TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:39445556C>G ENST00000308521.5 + 5 1050 c.693C>G c.(691-693)gtC>gtG p.V231V APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 233 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding p.V231V(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) ACTCACCTGTCTCCTGGAAGA 0.463000 30 185 0 0 0.059317 0 0 KLB 152831 broad.mit.edu 37 4 39408690 39408690 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:39408690C>A ENST00000257408.4 + 1 218 c.121C>A c.(121-123)Ctg>Atg p.L41M NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 41 carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.L41K(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 ATCTGTCATCCTGTCAGCACT 0.413000 26 84 3.65163e-15 5.02239e-15 0.030593 1 0 METTL13 51603 broad.mit.edu 37 1 171755174 171755174 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:171755174A>G ENST00000361735.3 + 3 1335 c.1069A>G c.(1069-1071)Aga>Gga p.R357G METTL13_ENST00000458517.1_Missense_Mutation_p.R356G|METTL13_ENST00000367737.5_Missense_Mutation_p.R201G|METTL13_ENST00000362019.3_Missense_Mutation_p.R271G NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 357 methyltransferase activity|protein binding p.R357G(1) breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GCTGTCGGCTAGAGTCATGGA 0.572000 5 75 0 0 0.038147 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793377 140793377 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140793377A>G ENST00000398610.2 + 1 635 c.635A>G c.(634-636)cAc>cGc p.H212R PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.H212R(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGCCATTCACCACCTGGTC 0.582000 30 65 0 0 0.050027 0 0 MED25 81857 broad.mit.edu 37 19 50334694 50334694 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:50334694G>T ENST00000312865.6 + 10 1259 c.1206G>T c.(1204-1206)tgG>tgT p.W402C MED25_ENST00000538643.1_Missense_Mutation_p.W189C NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 402 Interaction with CREBBP.|Interaction with VP16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm p.W402C(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) TTCTGGCCTGGAGCGGGGTCC 0.687000 12 20 0.000308642 0.000329267 0.024245 1 0 PCNX 22990 broad.mit.edu 37 14 71514586 71514586 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:71514586C>G ENST00000304743.2 + 22 4669 c.4223C>G c.(4222-4224)cCt>cGt p.P1408R PCNX_ENST00000439984.3_Missense_Mutation_p.P1297R|PCNX_ENST00000238570.5_Missense_Mutation_p.P1408R NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1408 integral to membrane p.P1408R(1) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTTAGCAGCCCTACATATCAG 0.383000 15 48 0 0 0.049695 0 0 DENND2A 27147 broad.mit.edu 37 7 140301877 140301877 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:140301877C>T ENST00000275884.6 - 2 738 c.321G>A c.(319-321)gaG>gaA p.E107E DENND2A_ENST00000492720.1_Silent_p.E107E|DENND2A_ENST00000537639.1_Silent_p.E107E|DENND2A_ENST00000496613.1_Silent_p.E107E Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 107 p.E107E(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCCTCTCCTTCTCTGTGCTCT 0.577000 157 153 0 0 0.048971 0 0 ARMC3 219681 broad.mit.edu 37 10 23270392 23270392 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:23270392C>A ENST00000298032.5 + 9 1124 c.1040C>A c.(1039-1041)tCa>tAa p.S347* ARMC3_ENST00000376528.4_Nonsense_Mutation_p.S84*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.S347*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.S347* NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 347 binding p.S347*(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGTGAGAATTCAGGCAGCAAA 0.373000 19 42 7.45023e-12 9.73757e-12 0.055883 1 0 HKR1 284459 broad.mit.edu 37 19 37853356 37853356 + Missense_Mutation SNP G G T rs143859791 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:37853356G>T ENST00000324411.4 + 6 928 c.659G>T c.(658-660)aGc>aTc p.S220I HKR1_ENST00000392153.3_Missense_Mutation_p.S201I|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.S159I|HKR1_ENST00000589392.1_Missense_Mutation_p.S202I|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591134.1_Intron NM_181786.2 NP_861451.1 P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 220 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S220I(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATAGGGTCCAGCCCTGAACGG 0.473000 48 97 1.05386e-31 1.71925e-31 0.048971 1 0 ZNF780B 163131 broad.mit.edu 37 19 40541960 40541960 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:40541960C>A ENST00000434248.1 - 5 871 c.806G>T c.(805-807)aGt>aTt p.S269I ZNF780B_ENST00000221355.6_Missense_Mutation_p.S121I NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S269I(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AGCATGAATACTTTGATGCTG 0.358000 14 60 1.3612e-06 1.54431e-06 0.024245 1 0 RHBDL1 9028 broad.mit.edu 37 16 727062 727062 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:727062A>C ENST00000219551.2 + 3 740 c.713A>C c.(712-714)cAc>cCc p.H238P RHBDL1_ENST00000352681.3_Missense_Mutation_p.H173P O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 238 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity p.H238P(1) endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) CTTGTGTACCACCCCGGGCAC 0.637000 4 111 0 0 0.020292 0 0 NELL1 4745 broad.mit.edu 37 11 20982079 20982079 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:20982079G>A ENST00000298925.5 + 13 1510 c.1357G>A c.(1357-1359)Gtc>Atc p.V453I NELL1_ENST00000325319.5_Missense_Mutation_p.V368I|NELL1_ENST00000532434.1_Missense_Mutation_p.V425I|NELL1_ENST00000357134.5_Missense_Mutation_p.V425I Q92832 NELL1_HUMAN NEL-like 1 (chicken) 425 EGF-like 2; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.V425I(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TTACATCTCTGTCCAGGGAGA 0.413000 34 93 0 0 0.021022 0 0 PLEK 5341 broad.mit.edu 37 2 68607985 68607985 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:68607985C>A ENST00000234313.7 + 3 508 c.329C>A c.(328-330)gCc>gAc p.A110D NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 110 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding p.A110D(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CAGAAATTTGCCAGGAAATCT 0.473000 90 202 4.98208e-43 8.49996e-43 0.048971 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90160967 90160967 + RNA SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:90160967T>A ENST00000567960.1 + 0 197 TUBB8P7_ENST00000564451.1_RNA p.V66E(1) GCTGTGCTCGTGGATCTGGAG 0.701000 24 174 0 0 0.039052 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073279 17073279 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17073279G>T ENST00000359963.3 - 1 421 c.162C>A c.(160-162)caC>caA p.H54Q NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 54 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.H54Q(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) TCTGCCGGCCGTGGGGGCCAT 0.637000 23 59 2.48779e-11 3.15027e-11 0.027356 1 0 LILRA2 11027 broad.mit.edu 37 19 55086877 55086877 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:55086877G>T ENST00000251377.3 + 6 943 c.810G>T c.(808-810)caG>caT p.Q270H LILRA2_ENST00000251376.3_Missense_Mutation_p.Q270H|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q270H|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q258H leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.Q270H(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CTGGTTGGCAGCCCCAGGCTG 0.617000 56 107 2.12129e-23 3.22522e-23 0.048971 1 0 CRNKL1 51340 broad.mit.edu 37 20 20031146 20031146 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:20031146C>A ENST00000377340.2 - 3 686 c.655G>T c.(655-657)Gaa>Taa p.E219* CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.E207*|CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.E58* NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 219 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding p.E219*(1) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TCATTTAATTCTTCTTCATCT 0.388000 28 72 9.39395e-14 1.26861e-13 0.030593 1 0 HAL 3034 broad.mit.edu 37 12 96374622 96374622 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:96374622C>A ENST00000261208.3 - 16 1675 c.1307G>T c.(1306-1308)gGa>gTa p.G436V HAL_ENST00000541929.1_Missense_Mutation_p.G228V|HAL_ENST00000538703.1_Missense_Mutation_p.G436V NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 436 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity p.G436V(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) AACTGTCTCTCCCCTATTGGC 0.423000 37 114 3.54909e-21 5.30583e-21 0.042209 1 0 HNF4A 3172 broad.mit.edu 37 20 43048493 43048493 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:43048493A>C ENST00000316099.3 + 7 958 c.869A>C c.(868-870)aAa>aCa p.K290T HNF4A_ENST00000443598.2_Missense_Mutation_p.K290T|HNF4A_ENST00000457232.1_Missense_Mutation_p.K268T|HNF4A_ENST00000415691.1_Missense_Mutation_p.K290T NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 290 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.K290T(2)|p.K268T(1) endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCTACCTCAAAGCCATCATC 0.547000 45 147 0 0 0.048971 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29446938 29446938 + Splice_Site SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr18:29446938C>A ENST00000283351.4 - 18 2799 c.2463_splice c.e18-1 p.A822_splice TRAPPC8_ENST00000582539.1_Splice_Site_p.A768_splice NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 822 ER to Golgi vesicle-mediated transport cis-Golgi network p.A822S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTTAGTCTTGCCTGTGGAGAT 0.358000 15 20 2.23348e-06 2.50846e-06 0.028581 1 0 CCL23 6368 broad.mit.edu 37 17 34340789 34340789 + Silent SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:34340789A>C ENST00000293280.2 - 3 367 c.297T>G c.(295-297)ggT>ggG p.G99G CCL23_ENST00000591423.1_Silent_p.G82G NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 82 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding p.G99G(1) large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CCTACATGACACCCGGCTTGG 0.542000 15 60 0 0 0.033300 0 0 DAG1 1605 broad.mit.edu 37 3 49569641 49569641 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:49569641A>G ENST00000545947.1 + 6 2419 c.1697A>G c.(1696-1698)gAc>gGc p.D566G DAG1_ENST00000308775.2_Missense_Mutation_p.D566G|DAG1_ENST00000541308.1_Missense_Mutation_p.D566G|DAG1_ENST00000539901.1_Missense_Mutation_p.D566G|DAG1_ENST00000538711.1_Missense_Mutation_p.D566G|DAG1_ENST00000515359.2_Missense_Mutation_p.D566G NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 566 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding p.D566G(1) NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGCCTTCCCGACAGCAGCCAC 0.597000 13 56 0 0 0.028581 0 0 MTSS1L 92154 broad.mit.edu 37 16 70712199 70712199 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:70712199G>A ENST00000338779.6 - 8 854 c.580C>T c.(580-582)Cgg>Tgg p.R194W NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 194 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding p.R194W(1) breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 AAGCGGCCCCGCTCCTCGATC 0.672000 17 193 0 0 0.014323 0 0 SLC44A4 80736 broad.mit.edu 37 6 31843659 31843659 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:31843659G>A ENST00000229729.6 - 4 232 c.212C>T c.(211-213)aCt>aTt p.T71I SLC44A4_ENST00000544672.1_5'UTR|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Missense_Mutation_p.T71I NM_025257.2 NP_079533.2 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 71 integral to membrane|plasma membrane choline transmembrane transporter activity p.T71I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GTAGGCCCCAGTAGAGTTCCT 0.602000 143 296 0 0 0.048971 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908093 12908093 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:12908093C>A ENST00000317869.6 - 2 275 c.50G>T c.(49-51)cGt>cTt p.R17L NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.R17L(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 AATGAACACACGGGAGTTCAT 0.468000 16 174 1.67942e-08 2.0126e-08 0.038395 1 0 CCT8L2 150160 broad.mit.edu 37 22 17073380 17073380 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17073380C>T ENST00000359963.3 - 1 320 c.61G>A c.(61-63)Gag>Aag p.E21K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 21 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.E21K(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) CTCGGGCTCTCCCTTGGGTTC 0.657000 16 49 0 0 0.055883 0 0 ALPK1 80216 broad.mit.edu 37 4 113356422 113356422 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:113356422G>T ENST00000458497.1 + 12 3432 c.3153G>T c.(3151-3153)tgG>tgT p.W1051C ALPK1_ENST00000177648.9_Missense_Mutation_p.W1051C|ALPK1_ENST00000504176.2_Missense_Mutation_p.W973C NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1051 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity p.W1051C(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ATGCTTTTTGGGTTCATCATC 0.358000 76 142 4.97629e-18 7.10671e-18 0.048971 1 0 RPSAP58 388524 broad.mit.edu 37 19 24010315 24010315 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:24010315G>A ENST00000496398.1 + 4 775 c.352G>A c.(352-354)Gag>Aag p.E118K RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.E118K p.E118K(2) endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 AGCCTTCTGGGAGCCACGGCT 0.562000 8 48 0 0 0.024245 0 0 CCT2 10576 broad.mit.edu 37 12 69983267 69983267 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:69983267C>T ENST00000543146.2 + 7 790 c.308C>T c.(307-309)tCc>tTc p.S103F CCT2_ENST00000299300.6_Missense_Mutation_p.S150F|CCT2_ENST00000544368.2_Missense_Mutation_p.S150F NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 150 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding p.S150F(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTATTTAGTTCCGATGAAGTT 0.299000 5 39 0 0 0.014758 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034721 52034721 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:52034721C>A ENST00000346477.3 - 2 188 c.120G>T c.(118-120)acG>acT p.T40T SIGLEC6_ENST00000391797.3_Silent_p.T40T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Silent_p.T40T|SIGLEC6_ENST00000359982.4_Silent_p.T40T|SIGLEC6_ENST00000425629.3_Silent_p.T40T NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 40 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus p.T29T(1)|p.T40T(1) endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CCTCCTGCACCGTCAGTGACT 0.627000 11 85 5.50884e-06 6.14077e-06 0.013537 1 0 KPRP 448834 broad.mit.edu 37 1 152733141 152733141 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:152733141G>A ENST00000368773.1 + 2 1135 c.1077G>A c.(1075-1077)ccG>ccA p.P359P KPRP_ENST00000606109.1_Silent_p.P359P NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 359 Pro-rich. cytoplasm p.P359P(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGTGGCCCGCAGCCCTCCT 0.647000 4 147 0 0 0.009096 0 0 DDX11 1663 broad.mit.edu 37 12 31249591 31249591 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:31249591G>T ENST00000407793.2 + 16 1793 c.1542G>T c.(1540-1542)cgG>cgT p.R514R DDX11_ENST00000228264.6_Silent_p.R488R|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.R514R|DDX11_ENST00000542838.1_Silent_p.R514R|DDX11_ENST00000545668.1_Silent_p.R514R NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 514 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.Y515N(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TCACTGAACGGTACGGAGCAG 0.592000 Multiple Myeloma(12;0.14) 21 75 1.9806e-07 2.29955e-07 0.014323 1 0 ZNF460 10794 broad.mit.edu 37 19 57802481 57802481 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:57802481C>T ENST00000360338.3 + 3 894 c.572C>T c.(571-573)cCt>cTt p.P191L ZNF460_ENST00000537645.1_Missense_Mutation_p.P150L NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P191L(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGATTCTCCCTCGTGTGAAG 0.448000 59 126 0 0 0.048971 0 0 DCST2 127579 broad.mit.edu 37 1 155002563 155002563 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:155002563G>A ENST00000368424.3 - 7 1232 c.1174C>T c.(1174-1176)Ccg>Tcg p.P392S DCST2_ENST00000295536.5_Missense_Mutation_p.P392S NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 392 integral to membrane p.P392S(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCTCACCCGGTGGGATGTAG 0.697000 21 197 0 0 0.014323 0 0 CROCC 9696 broad.mit.edu 37 1 17257855 17257855 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:17257855C>T ENST00000375541.5 + 8 988 c.919C>T c.(919-921)Cgg>Tgg p.R307W CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 307 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.R307W(1) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGTGGGGTTCCGGCGGCTGGT 0.622000 22 103 0 0 0.034045 0 0 THBS4 7060 broad.mit.edu 37 5 79375018 79375018 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:79375018G>A ENST00000350881.2 + 19 2638 c.2448G>A c.(2446-2448)acG>acA p.T816T THBS4_ENST00000511733.1_Silent_p.T725T|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 816 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity p.T816T(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GGAAGCAGACGGAGCAGACAT 0.488000 10 66 0 0 0.020292 0 0 BRAF 673 broad.mit.edu 37 7 140434413 140434413 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:140434413G>T ENST00000288602.6 - 18 2345 c.2285C>A c.(2284-2286)gCg>gAg p.A762E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 762 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.A762E(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GACAGGAAACGCACCATATCC 0.403000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 183 189 2.13639e-87 3.78956e-87 0.048971 1 0 PLEKHN1 84069 broad.mit.edu 37 1 905907 905907 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:905907A>T ENST00000379409.2 + 4 367 c.337A>T c.(337-339)Agc>Tgc p.S113C PLEKHN1_ENST00000379410.3_Missense_Mutation_p.S113C|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.S113C Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 113 PH 1. p.S113C(1) central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GCAGGATGTCAGCGACTGCTA 0.672000 29 54 0 0 0.041601 0 0 ABCC2 1244 broad.mit.edu 37 10 101606844 101606844 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:101606844G>T ENST00000370449.4 + 30 4386 c.4273G>T c.(4273-4275)Ggg>Tgg p.G1425W NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1425 ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.G1425W(1) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCTGCAACTTGGGTTATCCCA 0.537000 71 143 1.68136e-41 2.83611e-41 0.048971 1 0 APOB 338 broad.mit.edu 37 2 21233375 21233375 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:21233375G>T ENST00000233242.1 - 26 6492 c.6365C>A c.(6364-6366)gCt>gAt p.A2122D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2122 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.A2122D(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATAATCATTAGCTTGCTGTGG 0.368000 20 22 2.89027e-11 3.64958e-11 0.014323 1 0 SDE2 163859 broad.mit.edu 37 1 226183030 226183030 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:226183030T>C ENST00000272091.7 - 2 193 c.175A>G c.(175-177)Agt>Ggt p.S59G SDE2_ENST00000366817.1_Silent_p.P7P NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) p.S59G(1) ACTGTGTCACTGGTGTTAATG 0.383000 21 220 0 0 0.049695 0 0 NEFM 4741 broad.mit.edu 37 8 24771756 24771756 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:24771756C>A ENST00000221166.5 + 1 1232 c.450C>A c.(448-450)taC>taA p.Y150* NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Nonsense_Mutation_p.Y150*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Nonsense_Mutation_p.Y150* P07197 NFM_HUMAN neurofilament, medium polypeptide 150 Coil 1B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton p.Y150*(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCGACGCGTACGACCAGGAGA 0.637000 7 18 0.0477658 0.0487472 0.047766 1 0 TLR8 51311 broad.mit.edu 37 X 12938519 12938519 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:12938519C>T ENST00000218032.6 + 2 1447 c.1360C>T c.(1360-1362)Cga>Tga p.R454* TLR8_ENST00000311912.5_Nonsense_Mutation_p.R472* NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 454 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity p.R472*(1) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TATCCGGAAACGACGCTCAAC 0.388000 39 28 0 0 0.039052 0 0 FHDC1 85462 broad.mit.edu 37 4 153864685 153864685 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:153864685C>T ENST00000511601.1 + 2 664 c.476C>T c.(475-477)tCc>tTc p.S159F FHDC1_ENST00000260008.3_Missense_Mutation_p.S159F Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 159 FH2. actin cytoskeleton organization actin binding p.S159F(1) ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TTAAATTCATCCTTCAGAGAA 0.438000 21 93 0 0 0.055883 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108952 90108952 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:90108952C>A ENST00000390271.2 + 0 243 GTATGCTTCCCAGTCCATCTC 0.517000 33 93 4.65686e-17 6.60831e-17 0.064281 1 0 CFI 3426 broad.mit.edu 37 4 110687980 110687980 + Splice_Site SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:110687980C>G ENST00000394634.2 - 2 265 c.57_splice c.e2-1 p.V20_splice CFI_ENST00000510800.1_Splice_Site_p.V20_splice|CFI_ENST00000512148.1_Splice_Site_p.V20_splice|CFI_ENST00000394635.3_Splice_Site_p.V20_splice NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 20 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity p.V20L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GTATAAGTGACCTGTAAAATG 0.388000 8 55 0 0 0.058154 0 0 NSD1 64324 broad.mit.edu 37 5 176665401 176665401 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:176665401G>C ENST00000439151.2 + 7 4130 c.4085G>C c.(4084-4086)gGa>gCa p.G1362A NSD1_ENST00000361032.4_Missense_Mutation_p.G1259A|NSD1_ENST00000354179.4_Missense_Mutation_p.G1093A|NSD1_ENST00000347982.4_Missense_Mutation_p.G1093A NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1362 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.G1362A(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCAGAACTTGGAGGTGGACAT 0.532000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 3 148 0 0 0.004672 0 0 FBXO38 81545 broad.mit.edu 37 5 147796641 147796641 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:147796641G>T ENST00000340253.5 + 12 1660 c.1492G>T c.(1492-1494)Gat>Tat p.D498Y FBXO38_ENST00000296701.6_Missense_Mutation_p.D498Y|FBXO38_ENST00000394370.3_Missense_Mutation_p.D498Y|FBXO38_ENST00000513826.1_Missense_Mutation_p.D498Y Q6PIJ6 FBX38_HUMAN F-box protein 38 498 D -> E (in Ref. 1; AAH33454). cytoplasm|nucleus p.D498Y(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACAATGACGATAATAATGC 0.463000 8 25 3.09899e-07 3.55191e-07 0.047766 1 0 ASTN2 23245 broad.mit.edu 37 9 119770520 119770520 + Translation_Start_Site SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:119770520C>T ENST00000361477.3 - 0 1389 ASTN2_ENST00000313400.4_Missense_Mutation_p.S481N|ASTN2_ENST00000361209.2_Missense_Mutation_p.S430N|ASTN2_ENST00000373996.3_Missense_Mutation_p.S481N O75129 ASTN2_HUMAN astrotactin 2 integral to membrane p.S430N(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCTCCCTTCACTCACCACGAA 0.498000 12 57 0 0 0.016723 0 0 ARMC9 80210 broad.mit.edu 37 2 232141472 232141472 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:232141472C>G ENST00000349938.4 + 15 1652 c.1458C>G c.(1456-1458)ctC>ctG p.L486L ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 486 binding p.L486L(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCATGAACCTCTGCCTCCGCA 0.537000 12 144 0 0 0.024245 0 0 KCNC2 3747 broad.mit.edu 37 12 75442064 75442064 + Missense_Mutation SNP G G A rs142936560 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:75442064G>A ENST00000549446.1 - 4 2329 c.1649C>T c.(1648-1650)cCg>cTg p.P550L KCNC2_ENST00000550433.1_Missense_Mutation_p.P550L|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000298972.1_Missense_Mutation_p.P550L|KCNC2_ENST00000341669.3_Missense_Mutation_p.P550L|KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.P550L|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000393288.2_Missense_Mutation_p.P550L NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 550 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity p.P550L(3) breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TGATAGTGGCGGCTCACTTCC 0.483000 9 45 0 0 0.058154 0 0 COL6A2 1292 broad.mit.edu 37 21 47542430 47542430 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:47542430C>G ENST00000300527.4 + 20 1697 c.1593C>G c.(1591-1593)ggC>ggG p.G531G COL6A2_ENST00000409416.1_Silent_p.G531G|COL6A2_ENST00000357838.4_Silent_p.G531G|COL6A2_ENST00000397763.1_Silent_p.G531G|COL6A2_ENST00000310645.5_Silent_p.G531G NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 531 Triple-helical region. G -> R (in UCMD). axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging p.G531G(3) NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GCGAGCCCGGCCCACGCGGCC 0.637000 8 101 0 0 0.058154 0 0 RBM48 84060 broad.mit.edu 37 7 92164123 92164123 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:92164123A>G ENST00000481551.1 + 4 897 c.856A>G c.(856-858)Aga>Gga p.R286G RBM48_ENST00000265732.5_Missense_Mutation_p.R286G Q5RL73 CG064_HUMAN RNA binding motif protein 48 286 nucleotide binding p.R286G(1) GGAGCGCAAAAGAAGAAGAGA 0.428000 15 19 0 0 0.028581 0 0 ASIC4 55515 broad.mit.edu 37 2 220379514 220379514 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:220379514C>A ENST00000358078.4 + 1 463 c.449C>A c.(448-450)gCa>gAa p.A150E ASIC4_ENST00000347842.3_Missense_Mutation_p.A150E|AC053503.11_ENST00000429882.1_RNA Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 150 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity p.A150E(1) GAGAAGGAGGCAGGGGATGAG 0.632000 50 154 9.55421e-19 1.39566e-18 0.048971 1 0 MPDZ 8777 broad.mit.edu 37 9 13188859 13188859 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:13188859C>A ENST00000319217.7 - 17 2535 c.2288G>T c.(2287-2289)aGt>aTt p.S763I MPDZ_ENST00000381015.4_Missense_Mutation_p.S763I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S763I|MPDZ_ENST00000381022.2_Missense_Mutation_p.S763I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S763I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S763I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S763I NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 763 PDZ 5. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.S763I(2) 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) TTCCTCAAGACTGCTGTTTTC 0.463000 67 205 1.31311e-47 2.26625e-47 0.048971 1 0 PSAP 5660 broad.mit.edu 37 10 73579275 73579275 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:73579275G>T ENST00000394936.3 - 11 1444 c.1297C>A c.(1297-1299)Ctg>Atg p.L433M PSAP_ENST00000394934.1_Missense_Mutation_p.L435M P07602 SAP_HUMAN prosaposin 433 Saposin B-type 4. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding p.L433M(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 AGAGCAGCCAGGATCTCCTGC 0.577000 30 84 2.48696e-23 3.76837e-23 0.059317 1 0 ETS2 2114 broad.mit.edu 37 21 40191577 40191577 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:40191577C>T ENST00000360214.3 + 9 1422 c.962C>T c.(961-963)tCt>tTt p.S321F ETS2_ENST00000360938.3_Missense_Mutation_p.S321F NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 321 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity p.S321F(2) NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TGCAGCCAGTCTCTCTGCCTC 0.532000 8 29 0 0 0.008291 0 0 CMTM5 116173 broad.mit.edu 37 14 23847613 23847613 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:23847613C>A ENST00000359320.3 + 2 626 c.182C>A c.(181-183)gCc>gAc p.A61D CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.A61D|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.A61D NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 61 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity p.A61D(2) endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GCCTACATGGCCGCGGCGCTA 0.572000 82 137 1.15773e-35 1.93099e-35 0.048971 1 0 COL12A1 1303 broad.mit.edu 37 6 75844451 75844451 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:75844451C>A ENST00000322507.8 - 32 5824 c.5515G>T c.(5515-5517)Ggc>Tgc p.G1839C COL12A1_ENST00000345356.6_Missense_Mutation_p.G675C|COL12A1_ENST00000483888.2_Missense_Mutation_p.G1839C|COL12A1_ENST00000416123.2_Missense_Mutation_p.G1839C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1839 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.G1839C(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTGGTCTTGCCTCTTCCCGTC 0.453000 33 59 1.62565e-12 2.14989e-12 0.050027 1 0 LILRB2 10288 broad.mit.edu 37 19 54782754 54782754 + Missense_Mutation SNP A A G rs143661416 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:54782754A>G ENST00000391748.1 - 6 995 c.868T>C c.(868-870)Tac>Cac p.Y290H LILRB2_ENST00000391746.1_Missense_Mutation_p.Y290H|LILRB2_ENST00000391749.4_Missense_Mutation_p.Y290H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Y174H|LILRB2_ENST00000314446.5_Missense_Mutation_p.Y290H NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 290 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.Y290H(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGCCCCCGTAGGAGCGGCTC 0.667000 26 39 0 0 0.021022 0 0 DSCAML1 57453 broad.mit.edu 37 11 117395563 117395563 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:117395563G>A ENST00000321322.6 - 5 1075 c.1074C>T c.(1072-1074)aaC>aaT p.N358N DSCAML1_ENST00000527706.1_Silent_p.N88N NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 298 Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.N358N(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AACCGAAGGTGTTGGTGACCT 0.632000 4 21 0 0 0.021553 0 0 RMDN1 51115 broad.mit.edu 37 8 87498776 87498776 + Nonsense_Mutation SNP A A T rs144513651 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:87498776A>T ENST00000406452.3 - 4 591 c.432T>A c.(430-432)taT>taA p.Y144* RMDN1_ENST00000430676.2_Nonsense_Mutation_p.Y144*|RMDN1_ENST00000519966.1_Nonsense_Mutation_p.Y144*|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.Y100*|CPNE3_ENST00000198765.4_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 p.Y144*(1) CTAGGGCTTCATACACCAATA 0.413000 27 36 0 0 0.037714 0 0 PFKFB4 5210 broad.mit.edu 37 3 48573763 48573763 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:48573763G>A ENST00000232375.3 - 8 878 c.766C>T c.(766-768)Cgg>Tgg p.R256W PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R222W|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R245W|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R256W|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R256W NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 256 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity p.R256R(1)|p.R256W(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TCCCCGTGCCGGCAGAGGTAG 0.637000 4 291 0 0 0.009096 0 0 RYR2 6262 broad.mit.edu 37 1 237713886 237713886 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:237713886C>T ENST00000366574.2 + 27 3426 c.3109C>T c.(3109-3111)Ctt>Ttt p.L1037F RYR2_ENST00000542537.1_Missense_Mutation_p.L1021F|RYR2_ENST00000360064.6_Missense_Mutation_p.L1035F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1037 4 X approximate repeats.|B30.2/SPRY 2. L -> P (in Ref. 1; CAA66975 and 2; CAC18855). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L1035F(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCCTACACTCTTCTGGATGA 0.512000 15 12 0 0 0.024245 0 0 ZNF320 162967 broad.mit.edu 37 19 53384141 53384141 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:53384141T>C ENST00000595635.1 - 8 1739 c.1238A>G c.(1237-1239)tAc>tGc p.Y413C ZNF320_ENST00000391781.2_Missense_Mutation_p.Y413C|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y413C(1) NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TTCACATTCGTAAAGTTTCTC 0.393000 24 48 0 0 0.059317 0 0 LPHN2 23266 broad.mit.edu 37 1 82409048 82409048 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:82409048G>C ENST00000370728.1 + 8 1438 c.793G>C c.(793-795)Gac>Cac p.D265H LPHN2_ENST00000370713.1_Missense_Mutation_p.D265H|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265H|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265H|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265H|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265H|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265H|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265H|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265H|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269H|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265H|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265H|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265H O95490 LPHN2_HUMAN latrophilin 2 265 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.D265H(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GACTGATATCGACCTAGCAGT 0.408000 21 39 0 0 0.018920 0 0 WDR37 22884 broad.mit.edu 37 10 1151165 1151165 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:1151165A>C ENST00000358220.1 + 11 1205 c.1061A>C c.(1060-1062)gAc>gCc p.D354A WDR37_ENST00000263150.4_Missense_Mutation_p.D354A Q9Y2I8 WDR37_HUMAN WD repeat domain 37 354 p.D354A(1) breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) GATTTCAGGGACCCCTCCATC 0.567000 4 24 0 0 0.008291 0 0 SON 6651 broad.mit.edu 37 21 34923302 34923302 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:34923302G>T ENST00000356577.4 + 3 2240 c.1765G>T c.(1765-1767)Gtg>Ttg p.V589L SON_ENST00000300278.4_Missense_Mutation_p.V589L|SON_ENST00000381679.4_Missense_Mutation_p.V589L|SON_ENST00000290239.6_Missense_Mutation_p.V589L|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 589 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.V589L(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 GGGGCAGCCTGTGGCAACTGG 0.662000 21 64 7.41877e-09 8.98697e-09 0.062417 1 0 PTPRD 5789 broad.mit.edu 37 9 8484300 8484300 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:8484300C>G ENST00000381196.4 - 27 3775 c.3232G>C c.(3232-3234)Gag>Cag p.E1078Q PTPRD_ENST00000360074.4_Missense_Mutation_p.E1065Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E657Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E664Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1078Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E667Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E657Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E667Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E664Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1056Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1078Q NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1078 Fibronectin type-III 8. E -> D (in dbSNP:rs7869444). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.E1078Q(2)|p.E667Q(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATGATTTCTCAGGCTTCAGG 0.428000 TSP Lung(15;0.13) 3 65 0 0 0.004672 0 0 ITIH2 3698 broad.mit.edu 37 10 7759743 7759743 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:7759743C>T ENST00000358415.4 + 6 788 c.622C>T c.(622-624)Cac>Tac p.H208Y ITIH2_ENST00000379587.4_Missense_Mutation_p.H197Y|ITIH2_ENST00000480387.1_3'UTR NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 208 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.H208Y(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCTGGCCAAACACTTAGAGGT 0.502000 69 191 0 0 0.048971 0 0 LRRN2 10446 broad.mit.edu 37 1 204588748 204588748 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:204588748C>G ENST00000367175.1 - 1 2585 c.373G>C c.(373-375)Gag>Cag p.E125Q LRRN2_ENST00000367176.3_Missense_Mutation_p.E125Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.E125Q O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 125 cell adhesion integral to membrane receptor activity p.E125Q(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGTTCTCCTCTAGGTGCAGG 0.602000 4 420 0 0 0.021553 0 0 LCN9 392399 broad.mit.edu 37 9 138556120 138556120 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:138556120G>T ENST00000277526.3 + 2 209 c.209G>T c.(208-210)aGc>aTc p.S70I LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 70 extracellular region pheromone binding|transporter activity p.S70I(2) kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) AAGAACGGCAGCCTAATATTT 0.473000 63 97 4.66136e-34 7.68867e-34 0.048971 1 0 UBE2J2 118424 broad.mit.edu 37 1 1192480 1192480 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:1192480C>A ENST00000347370.2 - 5 623 c.150G>T c.(148-150)ccG>ccT p.P50P UBE2J2_ENST00000339385.6_Silent_p.P67P|UBE2J2_ENST00000360466.2_Silent_p.P102P|UBE2J2_ENST00000400929.2_Silent_p.P50P|UBE2J2_ENST00000400930.4_Silent_p.P118P|UBE2J2_ENST00000349431.6_Silent_p.P102P|UBE2J2_ENST00000348298.7_Silent_p.P50P|UBE2J2_ENST00000491779.1_5'UTR NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 102 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity p.P118P(1) cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) TCCACGTGTCCGGGTGGAAAT 0.642000 63 145 2.37532e-16 3.34943e-16 0.048971 1 0 CES1P1 51716 broad.mit.edu 37 16 55806304 55806304 + RNA SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:55806304G>A ENST00000571348.1 + 0 606 NR_003276.2 CACAGCCCGGGGAACTGGGGT 0.587000 15 12 0 0 0.049695 0 0 ATP6V0B 533 broad.mit.edu 37 1 44441472 44441472 + Splice_Site SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:44441472G>T ENST00000532642.1 + 2 165 c.67_splice c.e2-1 p.G23_splice ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000236067.4_Intron Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 23 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity p.G23V(1) breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTGCTGCAGGAGTCTGCTAC 0.552000 150 349 1.46247e-67 2.56362e-67 0.048971 1 0 FAM27L 284123 broad.mit.edu 37 17 21825463 21825463 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:21825463C>A ENST00000426869.3 + 0 167 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tacacaggaacgtctccggac 0.657000 26 72 2.48779e-11 3.15027e-11 0.027356 1 0 NALCN 259232 broad.mit.edu 37 13 101755543 101755543 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:101755543C>A ENST00000251127.6 - 26 3118 c.3037G>T c.(3037-3039)Ggc>Tgc p.G1013C NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1013 integral to membrane sodium channel activity|voltage-gated ion channel activity p.G1013C(1) 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) TCCTTGAAGCCGCTGAAAAGT 0.453000 38 108 8.69298e-16 1.20676e-15 0.027894 1 0 POP4 10775 broad.mit.edu 37 19 30102776 30102776 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:30102776C>G ENST00000585603.1 + 4 2594 c.292C>G c.(292-294)Ctt>Gtt p.L98V POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.L17V O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 98 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding p.L98V(1) breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CAGATACAGCCTTTTCCTCCC 0.463000 47 130 0 0 0.048971 0 0 SV2C 22987 broad.mit.edu 37 5 75427939 75427939 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:75427939G>T ENST00000502798.2 + 2 806 c.364G>T c.(364-366)Gag>Tag p.E122* SV2C_ENST00000322285.7_Nonsense_Mutation_p.E122* NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 122 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.E122*(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GGACCGGCGGGAGCTGGAATC 0.547000 19 35 3.62473e-10 4.52585e-10 0.062417 1 0 PLGLA 285189 broad.mit.edu 37 2 107007489 107007489 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:107007489C>A ENST00000484422.1 + 0 338 AAGACTTTCCCTTTCATCTTT 0.458000 6 13 3.59834e-05 3.92306e-05 0.021553 1 0 PRKRIR 5612 broad.mit.edu 37 11 76063505 76063505 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:76063505C>A ENST00000260045.3 - 5 794 c.689G>T c.(688-690)tGt>tTt p.C230F NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 230 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity p.C230F(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TGTTTTTGAACAAAACAACGT 0.438000 19 49 1.33986e-20 1.98976e-20 0.024334 1 0 YEATS2 55689 broad.mit.edu 37 3 183432964 183432964 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:183432964A>T ENST00000305135.5 + 2 209 c.14A>T c.(13-15)aAg>aTg p.K5M NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 5 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding p.K5M(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTGGAATCAAGCGAACCATC 0.378000 38 48 0 0 0.027894 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576192 90576192 + RNA SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:90576192A>G ENST00000551025.1 + 0 4620 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity p.S1061S(1) NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CAAAATTTTCATTAATACAAT 0.289000 3 1 0 0 0.004672 0 0 ADPRM 56985 broad.mit.edu 37 17 10608454 10608454 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:10608454C>T ENST00000379774.4 + 2 302 c.211C>T c.(211-213)Cag>Tag p.Q71* ADPRM_ENST00000527582.2_Nonsense_Mutation_p.Q71* NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent p.Q71*(1) TTGTGTCCTTCAGCTTGGAGA 0.433000 35 68 0 0 0.039052 0 0 LINC00969 440993 broad.mit.edu 37 3 195391049 195391049 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:195391049C>A ENST00000445430.1 + 0 575 TTGGAAAGGGCAGGCAGGCCC 0.532000 4 178 0.00909568 0.0094115 0.009096 1 0 C1orf200 644997 broad.mit.edu 37 1 9713992 9713992 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:9713992G>A ENST00000377320.3 - 2 498 c.349C>T c.(349-351)Cgc>Tgc p.R117C PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron chromosome 1 open reading frame 200 p.R117C(1) endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) Ggctgagagcggtagctcata 0.532000 15 26 0 0 0.028581 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296491 28296491 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:28296491C>G ENST00000284987.5 - 8 2795 c.2674G>C c.(2674-2676)Gac>Cac p.D892H AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 892 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.D892H(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CAACCTGTGTCACAGGTCCTA 0.542000 26 73 0 0 0.027356 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072351 17072351 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072351C>G ENST00000359963.3 - 1 1349 c.1090G>C c.(1090-1092)Gaa>Caa p.E364Q NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 364 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.E364Q(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) CATTCCCATTCAAATACCACA 0.612000 38 116 0 0 0.027894 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176000 140176000 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140176000C>A ENST00000526136.1 + 1 1451 c.1451C>A c.(1450-1452)gCg>gAg p.A484E PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A484E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A484E NM_018905.2 NP_061728.1 p.A484E(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGCGGACGCGCAGGAGAAC 0.657000 34 99 1.21353e-23 1.85136e-23 0.048971 1 0 FZD10 11211 broad.mit.edu 37 12 130647553 130647553 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:130647553C>A ENST00000229030.4 + 1 550 c.66C>A c.(64-66)agC>agA p.S22R FZD10_ENST00000539839.1_5'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 22 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.S22R(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCGCCATCAGCTCCATGGACA 0.667000 4 16 0.000602214 0.000640928 0.014758 1 0 DIP2B 57609 broad.mit.edu 37 12 51065097 51065097 + Missense_Mutation SNP T T G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:51065097T>G ENST00000301180.5 + 5 590 c.556T>G c.(556-558)Tca>Gca p.S186A NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 186 Ser-rich. nucleus catalytic activity|transcription factor binding p.S186A(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GTCCACTTCTTCATCCGCATC 0.512000 37 82 0 0 0.023175 0 0 MARS2 92935 broad.mit.edu 37 2 198571112 198571112 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:198571112G>A ENST00000282276.6 + 1 1026 c.983G>A c.(982-984)gGc>gAc p.G328D AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 328 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.G328D(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TTAGGGGCCGGCATGAGCCCG 0.542000 6 351 0 0 0.029380 0 0 HLCS 3141 broad.mit.edu 37 21 38137445 38137445 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:38137445A>G ENST00000399120.1 - 9 2778 c.1548T>C c.(1546-1548)ccT>ccC p.P516P HLCS_ENST00000336648.3_Silent_p.P516P NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 516 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding p.P516P(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CACATCCCACAGGGCTCAGCC 0.577000 3 73 0 0 0.009096 0 0 MYO15A 51168 broad.mit.edu 37 17 18023558 18023558 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:18023558C>T ENST00000205890.5 + 2 1782 c.1444C>T c.(1444-1446)Cga>Tga p.R482* NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 482 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.R482*(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTCTTCCCGCGACCCCAGGT 0.632000 29 46 0 0 0.054565 0 0 SPECC1 92521 broad.mit.edu 37 17 20217341 20217341 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:20217341A>T ENST00000395530.2 + 13 3135 c.2927A>T c.(2926-2928)cAg>cTg p.Q976L SPECC1_ENST00000261503.5_Missense_Mutation_p.Q1057L|SPECC1_ENST00000536879.1_Missense_Mutation_p.Q397L|SPECC1_ENST00000395527.4_Missense_Mutation_p.Q1057L|AC004702.2_ENST00000580225.1_lincRNA NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 1057 CH. nucleus p.Q1057L(1) breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AGTGTGATGCAGTACGTGGCC 0.572000 17 28 0 0 0.033300 0 0 ZNF208 7757 broad.mit.edu 37 19 22154366 22154366 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:22154366C>A ENST00000397126.4 - 4 3618 c.3470G>T c.(3469-3471)aGt>aTt p.S1157I ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.S1029I(2)|p.S1157I(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CTTATGATAACTAAGGGTTGA 0.358000 8 20 1.06961e-07 1.25162e-07 0.038147 1 0 FBXO27 126433 broad.mit.edu 37 19 39522510 39522510 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:39522510C>A ENST00000292853.4 - 2 477 c.358G>T c.(358-360)Ggc>Tgc p.G120C FBXO27_ENST00000600828.1_Missense_Mutation_p.G120C|FBXO27_ENST00000509137.2_Missense_Mutation_p.G120C NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 120 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding p.G120C(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCACCTTGGCCGCAGGGGTTG 0.701000 12 38 2.32078e-09 2.8344e-09 0.024245 1 0 CSMD3 114788 broad.mit.edu 37 8 113988072 113988072 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:113988072G>T ENST00000297405.5 - 7 1580 c.1336C>A c.(1336-1338)Cat>Aat p.H446N CSMD3_ENST00000352409.3_Missense_Mutation_p.H446N|CSMD3_ENST00000343508.3_Missense_Mutation_p.H406N|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 446 integral to membrane|plasma membrane p.H446N(1)|p.H406N(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATACCTCTATGAGTAACAACT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 43 3.28513e-13 4.38344e-13 0.021523 1 0 TENM3 55714 broad.mit.edu 37 4 183676073 183676073 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:183676073A>C ENST00000511685.1 + 22 4676 c.4553A>C c.(4552-4554)gAt>gCt p.D1518A TENM3_ENST00000406950.2_Missense_Mutation_p.D1518A|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.D1518A(1) TCTCCAACTGATCAAGAACTC 0.378000 20 57 0 0 0.055883 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140797646 140797646 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140797646C>A ENST00000398594.2 + 1 220 c.220C>A c.(220-222)Cac>Aac p.H74N PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018927.3 NP_061750.1 p.H74Y(1)|p.H74N(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAAGCTGCACTTCAGCGT 0.562000 37 88 3.62531e-18 5.21065e-18 0.019004 1 0 TECTA 7007 broad.mit.edu 37 11 120996458 120996458 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:120996458G>A ENST00000392793.1 + 8 1922 c.1651G>A c.(1651-1653)Gtg>Atg p.V551M TECTA_ENST00000264037.2_Missense_Mutation_p.V551M O75443 TECTA_HUMAN tectorin alpha 551 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.V551M(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCACAGCTGCGTGTATGACCT 0.567000 80 197 0 0 0.048971 0 0 PAX7 5081 broad.mit.edu 37 1 19062359 19062359 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:19062359C>A ENST00000420770.2 + 8 1472 c.1389C>A c.(1387-1389)ggC>ggA p.G463G PAX7_ENST00000400661.3_Silent_p.G461G|PAX7_ENST00000375375.3_Silent_p.G463G NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 463 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G463G(2) PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) ATCAGTACGGCCAGTACGGCC 0.657000 T FOXO1A alveolar rhabdomyosarcoma 13 68 1.33834e-09 1.64803e-09 0.043863 1 0 MIR3654 100500804 broad.mit.edu 37 11 62346199 62346199 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:62346199C>T ENST00000496634.2 - 5 1039 c.994G>A c.(994-996)Gag>Aag p.E332K TUT1_ENST00000308436.7_Missense_Mutation_p.E370K|TUT1_ENST00000476907.1_Missense_Mutation_p.E332K p.E370K(1)|p.E332K(1) NS(1) 1 GCTTTCTCCTCCTTTGGGGTC 0.617000 26 156 0 0 0.045705 0 0 HNRNPK 3190 broad.mit.edu 37 9 86593299 86593299 + Translation_Start_Site SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:86593299T>C ENST00000376263.3 - 0 185 HNRNPK_ENST00000351839.3_De_novo_Start_OutOfFrame|HNRNPK_ENST00000376264.2_De_novo_Start_OutOfFrame|HNRNPK_ENST00000360384.5_De_novo_Start_OutOfFrame|HNRNPK_ENST00000376281.4_De_novo_Start_OutOfFrame NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 AGTTATTATATATCCTTGCAG 0.383000 6 10 0 0 0.038147 0 0 MAP3K2 10746 broad.mit.edu 37 2 128088066 128088066 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:128088066T>C ENST00000409947.1 - 6 562 c.280A>G c.(280-282)Act>Gct p.T94A MAP3K2_ENST00000344908.5_Missense_Mutation_p.T94A Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 94 OPR. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding p.T94A(1) central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TCTTGAGTAGTTAATGGAATT 0.378000 2 10 0 0 0.004672 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579110 35579110 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:35579110A>T ENST00000373330.1 + 11 1853 c.1679A>T c.(1678-1680)aAt>aTt p.N560I ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.N560I Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 560 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding p.N560I(1) 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) ATAATTGAAAATATTTTATTT 0.318000 27 34 0 0 0.037714 0 0 OR4F15 390649 broad.mit.edu 37 15 102358761 102358761 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:102358761G>A ENST00000332238.4 + 1 396 c.372G>A c.(370-372)atG>atA p.M124I NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M124I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ACAGATACATGGCCATATGTA 0.468000 16 105 0 0 0.043863 0 0 GCNT1 2650 broad.mit.edu 37 9 79118029 79118029 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:79118029G>T ENST00000442371.1 + 3 1671 c.732G>T c.(730-732)acG>acT p.T244T GCNT1_ENST00000444201.2_Silent_p.T244T|GCNT1_ENST00000376730.4_Silent_p.T244T|GCNT1_ENST00000536223.1_Silent_p.T244T NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 244 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity p.T244T(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 ACCTGGAAACGGAGAGGATGC 0.418000 11 76 1.08611e-07 1.2676e-07 0.010729 1 0 MYEOV 26579 broad.mit.edu 37 11 69063518 69063518 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:69063518G>T ENST00000535407.1 + 2 1070 c.427G>T c.(427-429)Gtg>Ttg p.V143L MYEOV_ENST00000441339.2_Missense_Mutation_p.V201L|MYEOV_ENST00000308946.3_Missense_Mutation_p.V201L Q96EZ4 MYEOV_HUMAN myeloma overexpressed 201 p.V201L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GCGAATGGATGTGGCTCTGCG 0.607000 74 156 1.37693e-34 2.27959e-34 0.048971 1 0 ZNF286A 57335 broad.mit.edu 37 17 15620368 15620368 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:15620368G>T ENST00000464847.2 + 5 1883 c.1330G>T c.(1330-1332)Ggg>Tgg p.G444W ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.G434W|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.G444W|ZNF286A_ENST00000413242.2_Missense_Mutation_p.G444W|ZNF286A_ENST00000421016.1_Missense_Mutation_p.G444W Q9HBT8 Z286A_HUMAN zinc finger protein 286A 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G444W(1) central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TAATGAATGTGGGAAAACCTT 0.393000 9 34 1.76689e-08 2.10614e-08 0.058154 1 0 ARID2 196528 broad.mit.edu 37 12 46245320 46245320 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:46245320G>T ENST00000334344.6 + 15 3586 c.3414G>T c.(3412-3414)ggG>ggT p.G1138G ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G748G|ARID2_ENST00000422737.1_Silent_p.G989G NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1138 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.G1138G(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CACCCTCAGGGGGAGTACAAA 0.512000 """N, S, F""" hepatocellular carcinoma 41 108 2.37825e-27 3.74323e-27 0.039052 1 0 SAV1 60485 broad.mit.edu 37 14 51131974 51131974 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:51131974T>C ENST00000324679.4 - 2 821 c.458A>G c.(457-459)cAt>cGt p.H153R NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 153 hippo signaling cascade cytoplasm|nucleus identical protein binding p.H153R(1) breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) GTAGTCTTCATGTGCACGATC 0.383000 17 40 0 0 0.018920 0 0 TEAD1 7003 broad.mit.edu 37 11 12901386 12901386 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:12901386G>A ENST00000361905.4 + 6 1082 c.417G>A c.(415-417)ccG>ccA p.P139P TEAD1_ENST00000527575.1_Silent_p.P154P|TEAD1_ENST00000527636.1_Silent_p.P154P|TEAD1_ENST00000361985.2_Silent_p.P154P|TEAD1_ENST00000334310.6_Silent_p.P143P|TEAD1_ENST00000526600.1_Silent_p.P58P NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 154 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P139P(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGGGGCGCCGGGGGTAAGTC 0.597000 17 142 0 0 0.055883 0 0 NIPAL2 79815 broad.mit.edu 37 8 99264759 99264759 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:99264759C>A ENST00000341166.3 - 3 563 c.308G>T c.(307-309)gGg>gTg p.G103V NIPAL2_ENST00000430223.2_Missense_Mutation_p.G103V NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 103 integral to membrane p.G103V(1) cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 TGCAAAGTTCCCCGTCTCTCC 0.502000 6 34 1.12685e-05 1.24679e-05 0.047766 1 0 CCDC171 203238 broad.mit.edu 37 9 15784550 15784550 + Missense_Mutation SNP T T G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:15784550T>G ENST00000380701.3 + 21 3453 c.3125T>G c.(3124-3126)cTa>cGa p.L1042R CCDC171_ENST00000297641.3_Missense_Mutation_p.L1042R NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1042 p.L309R(1)|p.L1042R(1) TGTGAAGAACTAAATAATGCA 0.373000 5 22 0 0 0.014758 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010122 24010122 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:24010122G>C ENST00000496398.1 + 4 582 c.159G>C c.(157-159)agG>agC p.R53S RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.R53S p.R53S(2) endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 ATCTCAAGAGGACCTGGGAGA 0.468000 6 54 0 0 0.058154 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806428 6806428 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:6806428C>A ENST00000307401.4 + 1 181 c.160C>A c.(160-162)Cgg>Agg p.R54R NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.(=)(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CATGGAAGCCCGGCTCCACAT 0.547000 77 160 7.14593e-30 1.15315e-29 0.048971 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256796 140256796 + Nonsense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140256796T>A ENST00000398631.2 + 1 1739 c.1739T>A c.(1738-1740)tTg>tAg p.L580* PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.L580*(1) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTAGCGAGTTGGTACCGCGG 0.662000 49 107 0 0 0.048971 0 0 CENPF 1063 broad.mit.edu 37 1 214791961 214791961 + Silent SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:214791961A>T ENST00000366955.3 + 4 573 c.405A>T c.(403-405)gcA>gcT p.A135A NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 135 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.A135A(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CGCAGTCTGCAGATGTCTCTC 0.398000 19 118 0 0 0.043863 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838843 16838843 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:16838843C>A ENST00000355661.3 - 11 1380 c.1370G>T c.(1369-1371)cGc>cTc p.R457L PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R457L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R457L Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 457 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding p.R457L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AGGACCCTGGCGAGGAAGCGT 0.587000 38 140 8.16277e-20 1.20025e-19 0.027894 1 0 DOCK3 1795 broad.mit.edu 37 3 51392314 51392314 + Splice_Site SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:51392314A>G ENST00000266037.9 + 41 4132 c.4107_splice c.e41-1 p.N1370_splice NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1370 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.N1370S(1)|p.N1359S(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTGTGGCAGAACAAAGAATAC 0.532000 58 151 0 0 0.048971 0 0 LIN37 55957 broad.mit.edu 37 19 36244981 36244981 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:36244981G>A ENST00000301159.9 + 7 872 c.508G>A c.(508-510)Ggg>Agg p.G170R AC002398.9_ENST00000591613.2_3'UTR NM_019104.2 NP_061977.1 Q96GY3 LIN37_HUMAN lin-37 homolog (C. elegans) 170 Pro-rich. protein binding p.G170R(1) large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACACCCCCGGGGCCACCCGG 0.642000 38 86 0 0 0.048971 0 0 SHANK1 50944 broad.mit.edu 37 19 51189549 51189549 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:51189549G>T ENST00000293441.1 - 20 2540 c.2522C>A c.(2521-2523)cCc>cAc p.P841H SHANK1_ENST00000391813.1_Missense_Mutation_p.P228H|SHANK1_ENST00000391814.1_Missense_Mutation_p.P849H|SHANK1_ENST00000359082.3_Missense_Mutation_p.P832H NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 841 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.P841H(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GAGGCCACCGGGACCAGGGCT 0.592000 30 97 1.30897e-18 1.89356e-18 0.041601 1 0 ICAM2 3384 broad.mit.edu 37 17 62081303 62081303 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:62081303A>T ENST00000412356.1 - 5 704 c.350T>A c.(349-351)cTg>cAg p.L117Q ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.L117Q|ICAM2_ENST00000579687.1_Missense_Mutation_p.L117Q|ICAM2_ENST00000578892.1_Missense_Mutation_p.L93Q|ICAM2_ENST00000578379.1_Missense_Mutation_p.L16Q|ICAM2_ENST00000449662.2_Missense_Mutation_p.L117Q|ICAM2_ENST00000418105.1_Missense_Mutation_p.L117Q|C17orf72_ENST00000412177.1_3'UTR NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 117 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding p.L117Q(1) large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 TTGCAGTGTCAGGATGACCTG 0.637000 4 60 0 0 0.009096 0 0 KNDC1 85442 broad.mit.edu 37 10 134997434 134997434 + Missense_Mutation SNP G G A rs144320928 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:134997434G>A ENST00000304613.3 + 5 587 c.566G>A c.(565-567)cGg>cAg p.R189Q KNDC1_ENST00000368571.2_Missense_Mutation_p.R124Q|KNDC1_ENST00000368572.2_Missense_Mutation_p.R189Q Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 189 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.R189Q(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CGCGTGTGCCGGAGCCTCTCT 0.607000 24 170 0 0 0.021523 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232619633 232619633 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:232619633G>A ENST00000366630.1 - 5 2244 c.1886C>T c.(1885-1887)aCg>aTg p.T629M SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T629M Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 629 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.T629M(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGGTCCCGCCGTCTCATTGTT 0.448000 10 103 0 0 0.013537 0 0 EXOC3 11336 broad.mit.edu 37 5 454086 454086 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:454086G>T ENST00000512944.1 + 4 1155 c.966G>T c.(964-966)cgG>cgT p.R322R EXOC3_ENST00000315013.5_Silent_p.R322R NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 333 exocytosis|protein transport p.R322R(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGAGCACGCGGATGCAGGACC 0.517000 6 38 0.000157383 0.000168302 0.038147 1 0 CNR2 1269 broad.mit.edu 37 1 24201556 24201556 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:24201556T>A ENST00000536471.1 - 3 810 c.552A>T c.(550-552)ccA>ccT p.P184P CNR2_ENST00000374472.4_Silent_p.P184P P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 184 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity p.P184P(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TGGGGATCAGTGGGAAAAGCT 0.562000 12 69 0 0 0.020292 0 0 ADAM23 8745 broad.mit.edu 37 2 207437900 207437900 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:207437900G>T ENST00000264377.3 + 18 2046 c.1718G>T c.(1717-1719)tGt>tTt p.C573F ADAM23_ENST00000374416.1_Missense_Mutation_p.C573F|ADAM23_ENST00000374415.3_Missense_Mutation_p.C573F NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 573 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.C573F(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACTGAATATTGTACTGGAGAC 0.413000 63 161 1.55545e-33 2.55619e-33 0.048971 1 0 STK36 27148 broad.mit.edu 37 2 219563440 219563440 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:219563440C>T ENST00000295709.3 + 26 3452 c.3173C>T c.(3172-3174)tCc>tTc p.S1058F STK36_ENST00000440309.1_Missense_Mutation_p.S1058F|STK36_ENST00000392105.3_Missense_Mutation_p.S1037F|STK36_ENST00000392106.2_Missense_Mutation_p.S1037F NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1058 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.S1058F(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GTGTCTGCCTCCCCTAGAACC 0.572000 116 284 0 0 0.048971 0 0 SEC22B 9554 broad.mit.edu 37 1 145115850 145115850 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:145115850C>A ENST00000453618.1 + 0 936 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CTGTATTTTTCATCATGTTAA 0.413000 17 117 1.96895e-08 2.34074e-08 0.016522 1 0 TAF1A 9015 broad.mit.edu 37 1 222761891 222761891 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:222761891A>T ENST00000350027.4 - 2 168 c.15T>A c.(13-15)agT>agA p.S5R TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.S5R|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_5'UTR|TAF1A_ENST00000352967.4_Missense_Mutation_p.S5R NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 5 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding p.S5R(1) kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TTAATTCTTCACTGAAATCAC 0.378000 19 218 0 0 0.062417 0 0 ZNF490 57474 broad.mit.edu 37 19 12719994 12719994 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:12719994C>T ENST00000311437.6 - 2 262 c.140G>A c.(139-141)gGa>gAa p.G47E ZNF490_ENST00000465656.1_5'UTR NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G47E(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 GATGCTTTGTCCATGGTGTTC 0.418000 16 41 0 0 0.062417 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745546 77745546 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:77745546C>A ENST00000409088.3 - 3 1863 c.1449G>T c.(1447-1449)gaG>gaT p.E483D LRRTM4_ENST00000409282.1_Missense_Mutation_p.E484D|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E484D|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E483D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.E483D NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 483 integral to membrane p.E483D(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CCACATAATACTCCTGTAAAG 0.473000 3 24 0.004672 0.00490231 0.004672 1 0 FIBIN 387758 broad.mit.edu 37 11 27016285 27016285 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:27016285A>T ENST00000318627.2 + 1 658 c.212A>T c.(211-213)cAg>cTg p.Q71L NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 71 extracellular region|Golgi apparatus p.Q71L(1) breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 GAGGGGAGCCAGGTTGGCAGC 0.662000 18 32 0 0 0.055883 0 0 TNFSF11 8600 broad.mit.edu 37 13 43181007 43181007 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:43181007C>T ENST00000398795.2 + 5 1056 c.688C>T c.(688-690)Cag>Tag p.Q230* TNFSF11_ENST00000239849.6_Nonsense_Mutation_p.Q303*|TNFSF11_ENST00000405262.2_Nonsense_Mutation_p.Q230*|TNFSF11_ENST00000544862.1_Nonsense_Mutation_p.Q230*|TNFSF11_ENST00000358545.2_Nonsense_Mutation_p.Q230* NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 303 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding p.Q303*(1) kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) GGATCCGGATCAGGATGCAAC 0.398000 49 102 0 0 0.048971 0 0 MDN1 23195 broad.mit.edu 37 6 90503894 90503894 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:90503894C>G ENST00000369393.3 - 4 702 c.587G>C c.(586-588)tGt>tCt p.C196S MDN1_ENST00000428876.1_Missense_Mutation_p.C196S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 196 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.C196S(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCATTCATACAGGTAACCAA 0.338000 23 44 0 0 0.030593 0 0 FNDC8 54752 broad.mit.edu 37 17 33448781 33448781 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:33448781C>A ENST00000158009.5 + 1 184 c.69C>A c.(67-69)aaC>aaA p.N23K NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 23 p.N23K(1) breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) AAAACTTCAACATGATGAATG 0.502000 18 159 0.00074312 0.000787144 0.038395 1 0 SKIV2L2 23517 broad.mit.edu 37 5 54654435 54654435 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:54654435G>C ENST00000230640.5 + 15 1822 c.1568G>C c.(1567-1569)cGt>cCt p.R523P SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422P NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 523 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R523H(1)|p.R523P(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) ATGTCTGGTCGTGCTGGAAGG 0.323000 4 39 0 0 0.038147 0 0 STRN3 29966 broad.mit.edu 37 14 31374709 31374709 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:31374709T>A ENST00000355683.5 - 13 1907 c.1692A>T c.(1690-1692)gtA>gtT p.V564V STRN3_ENST00000357479.5_Silent_p.V648V NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 648 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity p.V564V(1)|p.V648V(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TGAAAGAGGTTACCATATGAG 0.368000 4 21 0 0 0.021553 0 0 KMT2D 8085 broad.mit.edu 37 12 49422684 49422684 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:49422684G>A ENST00000301067.7 - 45 14308 c.14309C>T c.(14308-14310)cCt>cTt p.P4770L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.P4770L(1)|p.P4500L(1) AGTTGTGACAGGCAGCTTTCC 0.542000 86 231 0 0 0.048971 0 0 RP1L1 94137 broad.mit.edu 37 8 10470214 10470214 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:10470214G>T ENST00000382483.3 - 4 1617 c.1394C>A c.(1393-1395)tCg>tAg p.S465* NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 465 intracellular signal transduction p.S465*(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCTGGCTCCGAGCCCTCGGG 0.716000 13 67 8.10497e-08 9.53401e-08 0.055883 1 0 OR2T33 391195 broad.mit.edu 37 1 248436566 248436566 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:248436566C>A ENST00000318021.2 - 1 572 c.551G>T c.(550-552)cGt>cTt p.R184L NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R184L(1) NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACAAGCCAAACGCACCAGCAC 0.542000 11 168 2.79863e-10 3.50417e-10 0.024334 1 0 TRPC5 7224 broad.mit.edu 37 X 111020010 111020010 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:111020010G>T ENST00000262839.2 - 11 3371 c.2453C>A c.(2452-2454)cCa>cAa p.P818Q NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 818 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.P818Q(1) 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 ACTGGACCTTGGCATGGTTCT 0.498000 89 54 2.75442e-36 4.61133e-36 0.048971 1 0 GPR22 2845 broad.mit.edu 37 7 107115753 107115753 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:107115753T>A ENST00000304402.4 + 3 2591 c.1248T>A c.(1246-1248)ttT>ttA p.F416L COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 416 integral to plasma membrane G-protein coupled receptor activity p.F416L(1) large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 AAATTACCTTTGAAGATAGTG 0.338000 7 5 0 0 0.038147 0 0 CCDC88C 440193 broad.mit.edu 37 14 91779574 91779574 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:91779574C>G ENST00000389857.6 - 15 2672 c.2586G>C c.(2584-2586)ctG>ctC p.L862L NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 862 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 p.L862L(2) 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) CAACGGCGGACAGTTTGGCAG 0.622000 25 138 0 0 0.034045 0 0 MUC16 94025 broad.mit.edu 37 19 9062932 9062932 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:9062932G>T ENST00000397910.4 - 3 24717 c.24514C>A c.(24514-24516)Ctc>Atc p.L8172I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8174 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L8172I(2)|p.L3805I(1) 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 GACACTGTGAGCTGAGCAAAG 0.502000 42 108 2.37825e-27 3.74323e-27 0.039052 1 0 TSSK4 283629 broad.mit.edu 37 14 24676508 24676508 + Nonsense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:24676508T>A ENST00000339917.5 + 3 831 c.627T>A c.(625-627)tgT>tgA p.C209* TSSK4_ENST00000287913.6_Nonsense_Mutation_p.C199*|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Nonsense_Mutation_p.C123* NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 199 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.C199*(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) AGACTTACTGTGGCAGCTTTG 0.527000 98 201 0 0 0.048971 0 0 ATP10D 57205 broad.mit.edu 37 4 47556801 47556801 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:47556801G>T ENST00000273859.3 + 11 1963 c.1694G>T c.(1693-1695)cGg>cTg p.R565L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 565 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 p.R565L(1) 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 ATTACACCTCGGCTCTTTATG 0.388000 25 94 7.07758e-08 8.34744e-08 0.024334 1 0 POLQ 10721 broad.mit.edu 37 3 121206886 121206886 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:121206886C>G ENST00000264233.5 - 16 5020 c.4892G>C c.(4891-4893)tGg>tCg p.W1631S NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1631 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity p.W1766S(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TGCCCCTGACCATATGAATGA 0.383000 DNA polymerases (catalytic subunits) 50 130 0 0 0.048971 0 0 BAI3 577 broad.mit.edu 37 6 69348714 69348714 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:69348714T>A ENST00000370598.1 + 3 968 c.147T>A c.(145-147)ccT>ccA p.P49P NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 49 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P49P(1) 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) AAATGTTTCCTAAAAACTTTA 0.383000 53 63 0 0 0.048971 0 0 ZNF416 55659 broad.mit.edu 37 19 58084737 58084737 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:58084737C>A ENST00000196489.3 - 4 757 c.535G>T c.(535-537)Gac>Tac p.D179Y NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D179Y(1) breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) GCTAGGAAGTCCTTCCCAACC 0.483000 40 97 3.61848e-18 5.21065e-18 0.030466 1 0 LILRA1 11024 broad.mit.edu 37 19 55106723 55106723 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:55106723C>A ENST00000453777.1 + 5 687 c.517C>A c.(517-519)Cgt>Agt p.R173S LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.R173S NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 173 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.R173S(1) 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) CTCACAGCCCCGTACCCATGG 0.567000 77 210 6.8793e-45 1.18271e-44 0.048971 1 0 TTN 7273 broad.mit.edu 37 2 179474458 179474458 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179474458C>A ENST00000589042.1 - 272 51916 c.51692G>T c.(51691-51693)aGt>aTt p.S17231I TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S14663I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S8166I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8358I|TTN_ENST00000359218.5_Missense_Mutation_p.S8291I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S15590I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15590 Fibronectin type-III 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S14663I(2)|p.S8358I(1)|p.S8166I(1)|p.S8291I(1) 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) AGAAGGTTCACTAATACCCGC 0.448000 52 138 2.43468e-25 3.73987e-25 0.048971 1 0 TTN 7273 broad.mit.edu 37 2 179415733 179415733 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179415733A>T ENST00000589042.1 - 336 91749 c.91525T>A c.(91525-91527)Tca>Aca p.S30509T TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27941T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21444T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21636T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21569T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28868T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28868 Fibronectin type-III 122. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S21636T(1)|p.S21569T(1)|p.S27939T(1)|p.S21444T(1)|p.S27941T(1) 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) GAAGACTGTGAGGGCGGGCTT 0.388000 8 20 0 0 0.047766 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497520 1497520 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:1497520G>T ENST00000421627.2 + 2 795 c.661G>T c.(661-663)Gac>Tac p.D221Y NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 300 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding p.D243Y(1)|p.D265Y(1) breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGCTCGGACGACAACCTGGA 0.697000 36 68 6.68952e-21 9.96739e-21 0.045515 1 0 CSMD3 114788 broad.mit.edu 37 8 113314033 113314033 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:113314033G>T ENST00000297405.5 - 53 8673 c.8429C>A c.(8428-8430)aCc>aAc p.T2810N CSMD3_ENST00000352409.3_Missense_Mutation_p.T2740N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2770N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2641N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2810 Sushi 17. integral to membrane|plasma membrane p.T2770N(1)|p.T2810N(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAGGCATCTGGTTTCAGATTC 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 42 1.49906e-05 1.65044e-05 0.020292 1 0 TRIP10 9322 broad.mit.edu 37 19 6750571 6750571 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:6750571G>A ENST00000600428.1 + 13 1738 c.1092G>A c.(1090-1092)acG>acA p.T364T TRIP10_ENST00000313285.8_Silent_p.T472T|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_Silent_p.T528T|TRIP10_ENST00000596758.1_Silent_p.T472T Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 528 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding p.T528T(1)|p.T472T(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 CCATTTACACGGAGTTTGATG 0.557000 18 126 0 0 0.055883 0 0 POSTN 10631 broad.mit.edu 37 13 38172804 38172804 + Silent SNP G G A rs138966400 byFrequency TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:38172804G>A ENST00000379747.4 - 1 177 c.60C>T c.(58-60)aaC>aaT p.N20N POSTN_ENST00000541179.1_Silent_p.N20N|POSTN_ENST00000379749.4_Silent_p.N20N|POSTN_ENST00000379742.4_Silent_p.N20N|POSTN_ENST00000541481.1_Silent_p.N20N|POSTN_ENST00000379743.4_Silent_p.N20N NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 20 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.N20N(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GATTGTTGGCGTTTATAGGGT 0.413000 8 53 0 0 0.047766 0 0 COPS2 9318 broad.mit.edu 37 15 49431825 49431825 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:49431825C>G ENST00000388901.5 - 4 345 c.272G>C c.(271-273)aGa>aCa p.R91T COPS2_ENST00000542928.1_Missense_Mutation_p.R27T|COPS2_ENST00000299259.6_Missense_Mutation_p.R91T NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 91 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity p.R91K(1)|p.R91T(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CTGCTTATATCTATTCATCAT 0.289000 10 55 0 0 0.010729 0 0 HOXB4 3214 broad.mit.edu 37 17 46655326 46655326 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:46655326G>T ENST00000332503.5 - 1 2147 c.356C>A c.(355-357)cCg>cAg p.P119Q HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 119 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P119Q(1) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 GCAGGGAGGCGGCGGGGGGCT 0.756000 13 60 6.31663e-08 7.46966e-08 0.024245 1 0 STAB1 23166 broad.mit.edu 37 3 52553536 52553536 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:52553536G>A ENST00000321725.6 + 50 5267 c.5191G>A c.(5191-5193)Gcc>Acc p.A1731T NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1731 FAS1 6. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.A1731T(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGTCACCGCCGCCGCCCAGGG 0.602000 17 93 0 0 0.049695 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798219 31798219 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:31798219G>T ENST00000390690.2 - 1 67 c.12C>A c.(10-12)aaC>aaA p.N4K NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 4 intermediate filament p.N4K(1) endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 TAGAGCAACAGTTGTAGGACA 0.512000 19 91 6.33239e-15 8.68275e-15 0.055883 1 0 PCDHB16 57717 broad.mit.edu 37 5 140564342 140564342 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140564342G>T ENST00000361016.2 + 1 3363 c.2208G>T c.(2206-2208)ctG>ctT p.L736L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 736 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.L736L(1) 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) CAGGGCGTCTGGTGGACGTAA 0.632000 38 160 2.40579e-17 3.42481e-17 0.025465 1 0 SLC9A4 389015 broad.mit.edu 37 2 103095664 103095664 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:103095664C>T ENST00000295269.4 + 2 1080 c.623C>T c.(622-624)cCa>cTa p.P208L NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 208 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity p.P208L(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCCGTGGACCCAGTGGCCGTG 0.597000 10 19 0 0 0.020292 0 0 BAGE2 85319 broad.mit.edu 37 21 11038750 11038750 + RNA SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:11038750G>T ENST00000470054.1 - 0 1453 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGGTCTACCAGGAGAAAATTT 0.373000 7 134 0.00829132 0.00865939 0.008291 1 0 NRXN1 9378 broad.mit.edu 37 2 50318616 50318616 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:50318616C>A ENST00000404971.1 - 20 5022 c.3683G>T c.(3682-3684)gGa>gTa p.G1228V NRXN1_ENST00000406316.2_Missense_Mutation_p.G1188V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1188V|NRXN1_ENST00000401710.1_Missense_Mutation_p.G206V|NRXN1_ENST00000342183.5_Missense_Mutation_p.G153V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1188V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1180V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1180V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1188 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.G1229V(1)|p.G153V(1)|p.G1228V(1)|p.G1188V(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAACTTAACTCCAATTTTTCC 0.363000 28 74 4.22769e-11 5.32332e-11 0.030593 1 0 ZBBX 79740 broad.mit.edu 37 3 167086333 167086333 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:167086333A>T ENST00000392766.2 - 5 438 c.98T>A c.(97-99)gTa>gAa p.V33E ZBBX_ENST00000307529.5_Missense_Mutation_p.V33E|ZBBX_ENST00000455345.2_Missense_Mutation_p.V33E|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.V33E|ZBBX_ENST00000392764.1_Missense_Mutation_p.V4E NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 33 intracellular zinc ion binding p.V33E(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CTCTAACTGTACTTTCTCCAT 0.343000 15 22 0 0 0.033300 0 0 ITGA2 3673 broad.mit.edu 37 5 52360751 52360751 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:52360751G>T ENST00000296585.5 + 14 1755 c.1612G>T c.(1612-1614)Ggt>Tgt p.G538C NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 538 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity p.G538C(2) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGGCATTTTGGGTCAGCACCA 0.433000 21 47 1.50039e-11 1.92723e-11 0.062417 1 0 PPP3R1 5534 broad.mit.edu 37 2 68413773 68413773 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:68413773T>C ENST00000234310.3 - 5 695 c.292A>G c.(292-294)Atc>Gtc p.I98V PPP3R1_ENST00000409752.1_Missense_Mutation_p.I117V|PPP3R1_ENST00000409377.1_Missense_Mutation_p.I88V NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha 98 EF-hand 3. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding p.I98V(1) large_intestine(1) 1 Pimecrolimus(DB00337) ATGTCATAGATACGGAAAGCA 0.348000 7 11 0 0 0.038147 0 0 PSG7 5676 broad.mit.edu 37 19 43430068 43430068 + RNA SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:43430068G>T ENST00000406070.2 - 0 1196 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CCCATTAATTGTCCAAGAATA 0.458000 86 232 4.31119e-35 7.16394e-35 0.048971 1 0 MATN1 4146 broad.mit.edu 37 1 31189047 31189047 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:31189047C>T ENST00000373765.4 - 5 951 c.916G>A c.(916-918)Gac>Aac p.D306N MATN1_ENST00000477320.1_5'UTR NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 306 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.D306N(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TCTGACACGTCCAGCGTATCC 0.562000 30 74 0 0 0.030466 0 0 KLB 152831 broad.mit.edu 37 4 39408691 39408691 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:39408691T>A ENST00000257408.4 + 1 219 c.122T>A c.(121-123)cTg>cAg p.L41Q NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 41 carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.L41K(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TCTGTCATCCTGTCAGCACTT 0.418000 26 86 0 0 0.030593 0 0 BIRC7 79444 broad.mit.edu 37 20 61870735 61870735 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:61870735G>T ENST00000217169.3 + 6 889 c.675G>T c.(673-675)caG>caT p.Q225H BIRC7_ENST00000342412.6_Intron|BIRC7_ENST00000395306.1_Intron NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 225 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding p.Q225H(1) endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CCGAGGCCCAGAGGGCGTGGT 0.692000 63 56 9.65139e-37 1.62187e-36 0.048971 1 0 ROBO2 6092 broad.mit.edu 37 3 77612382 77612382 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:77612382G>T ENST00000461745.1 + 11 2484 c.1584G>T c.(1582-1584)ccG>ccT p.P528P ROBO2_ENST00000332191.8_Silent_p.P528P|ROBO2_ENST00000487694.3_Silent_p.P544P NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 528 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.P528P(1)|p.P544P(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CATCCAAACCGCAGGTCACTG 0.463000 14 33 6.31663e-08 7.46966e-08 0.024245 1 0 NOP56 10528 broad.mit.edu 37 20 2638609 2638609 + Missense_Mutation SNP A A C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:2638609A>C ENST00000329276.5 + 12 1970 c.1454A>C c.(1453-1455)cAa>cCa p.Q485P NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 485 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding p.Q485P(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 AAGAAAAAGCAAAAGCCCCAG 0.428000 177 278 0 0 0.048971 0 0 DIAPH3 81624 broad.mit.edu 37 13 60582753 60582753 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:60582753T>A ENST00000400324.4 - 9 1159 c.939A>T c.(937-939)tcA>tcT p.S313S DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Silent_p.S243S|DIAPH3_ENST00000400320.1_Silent_p.S267S|DIAPH3_ENST00000400330.1_Silent_p.S313S|DIAPH3_ENST00000377908.2_Silent_p.S302S|DIAPH3_ENST00000267215.4_Silent_p.S313S NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 313 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding p.S313S(1) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTTCACCAGCTGAAGTTAAAG 0.328000 17 119 0 0 0.038395 0 0 ROBO2 6092 broad.mit.edu 37 3 77595510 77595510 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:77595510G>A ENST00000461745.1 + 7 1856 c.956G>A c.(955-957)cGg>cAg p.R319Q ROBO2_ENST00000332191.8_Missense_Mutation_p.R319Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R335Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 319 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.R319Q(1)|p.R335Q(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TTTGTGGTTCGGCCAAGAGAT 0.398000 21 86 0 0 0.049695 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181144 19181144 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:19181144C>T ENST00000375371.3 - 3 841 c.820G>A c.(820-822)Gtg>Atg p.V274M RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 274 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity p.V274M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCGAGAACACGACCACGACG 0.627000 4 52 0 0 0.009096 0 0 ALG13 79868 broad.mit.edu 37 X 110988103 110988103 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:110988103G>A ENST00000394780.3 + 24 2915 c.2903G>A c.(2902-2904)tGt>tAt p.C968Y ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 968 Pro-rich. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity p.C968Y(1) endometrium(2)|lung(10)|skin(1) 13 ccTTATTCCTGTGATCCAAGC 0.473000 10 4 0 0 0.013537 0 0 DDX11 1663 broad.mit.edu 37 12 31249592 31249592 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:31249592T>A ENST00000407793.2 + 16 1794 c.1543T>A c.(1543-1545)Tac>Aac p.Y515N DDX11_ENST00000228264.6_Missense_Mutation_p.Y489N|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.Y515N|DDX11_ENST00000542838.1_Missense_Mutation_p.Y515N|DDX11_ENST00000545668.1_Missense_Mutation_p.Y515N NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 515 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.Y515N(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CACTGAACGGTACGGAGCAGT 0.592000 Multiple Myeloma(12;0.14) 22 74 0 0 0.018920 0 0 TTLL2 83887 broad.mit.edu 37 6 167753913 167753913 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:167753913C>A ENST00000239587.5 + 3 613 c.525C>A c.(523-525)taC>taA p.Y175* NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 175 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity p.Y175*(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CTTCCCTGTACCAGTTCATCC 0.507000 48 102 2.64894e-19 3.88222e-19 0.048971 1 0 LAMA2 3908 broad.mit.edu 37 6 129649532 129649532 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:129649532G>T ENST00000421865.2 + 29 4335 c.4286G>T c.(4285-4287)tGt>tTt p.C1429F NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1429 Laminin EGF-like 15. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.C1429F(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGCAGCCTGTGTGACCCTGAA 0.532000 61 125 1.02016e-41 1.73388e-41 0.048971 1 0 TRPM3 80036 broad.mit.edu 37 9 73218374 73218374 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:73218374C>A ENST00000377110.2 - 19 2887 c.2644G>T c.(2644-2646)Gga>Tga p.G882* TRPM3_ENST00000377106.1_Nonsense_Mutation_p.G754*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.G754*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.G731*|TRPM3_ENST00000377105.1_Nonsense_Mutation_p.G741*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.G909*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.G729*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.G744*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.G741*|TRPM3_ENST00000377111.2_Nonsense_Mutation_p.G882*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.G744*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.G886* NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 907 integral to membrane calcium channel activity p.G882*(1)|p.G754*(1)|p.G886*(1) 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 ATCAGGTATCCGATATACGCC 0.522000 26 38 3.73148e-12 4.90579e-12 0.034045 1 0 RNASE11 122651 broad.mit.edu 37 14 21052268 21052268 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:21052268G>T ENST00000335950.4 - 3 828 c.366C>A c.(364-366)cgC>cgA p.R122R RNASE11_ENST00000398008.2_Silent_p.R122R|RNASE11_ENST00000553849.1_Silent_p.R122R|RNASE11_ENST00000432835.2_Silent_p.R122R|RNASE11_ENST00000555841.1_Silent_p.R122R|RNASE11_ENST00000398009.2_Silent_p.R122R NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 122 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.R122R(1) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CTGTGGAGCTGCGGATGAAGT 0.488000 22 59 0.00188189 0.00198397 0.062417 1 0 ASB7 140460 broad.mit.edu 37 15 101170138 101170138 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:101170138C>T ENST00000332783.7 + 5 1493 c.708C>T c.(706-708)taC>taT p.Y236Y ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Silent_p.Y236Y NM_198243.2 NP_937886.1 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box containing 7 236 intracellular signal transduction p.Y236Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2) 16 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TATATAATTACGGAGCAGACA 0.453000 16 86 0 0 0.014323 0 0 FCRL2 79368 broad.mit.edu 37 1 157738300 157738300 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:157738300G>T ENST00000361516.3 - 5 835 c.787C>A c.(787-789)Cca>Aca p.P263T FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.P263T NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 263 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity p.P263T(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTCACAGCTGGGATCTCCAGC 0.512000 143 214 3.42498e-63 5.98034e-63 0.048971 1 0 EPRS 2058 broad.mit.edu 37 1 220178627 220178627 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:220178627C>T ENST00000366923.3 - 16 2295 c.2026G>A c.(2026-2028)Gga>Aga p.G676R EPRS_ENST00000464052.1_5'UTR NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 676 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.G676R(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATGAAGAATCCTCTTCTCTGG 0.333000 6 70 0 0 0.029380 0 0 MED13L 23389 broad.mit.edu 37 12 116401214 116401214 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:116401214T>A ENST00000281928.3 - 30 6704 c.6498A>T c.(6496-6498)ttA>ttT p.L2166F NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2166 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.L2166F(1) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTATCTACCTTAAAACATCCG 0.428000 22 47 0 0 0.016522 0 0 INSRR 3645 broad.mit.edu 37 1 156810734 156810734 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:156810734G>T ENST00000368195.3 - 22 4221 c.3825C>A c.(3823-3825)acC>acA p.T1275T NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1275 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.T1275T(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCTGCATCGGTGGTAGGCA 0.647000 4 73 8.12818e-05 8.75494e-05 0.029380 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119134364 119134364 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:119134364G>T ENST00000264245.4 + 12 4120 c.3588G>T c.(3586-3588)caG>caT p.Q1196H NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1196 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity p.Q1196H(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AAATGTGCCAGGCCAGGGCGG 0.582000 12 78 2.32078e-09 2.8344e-09 0.024245 1 0 LOC645752 645752 broad.mit.edu 37 15 78211461 78211461 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:78211461C>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TCTCCTCCTGCTCCTGGAGTC 0.567000 57 179 6.3237e-29 1.00953e-28 0.048971 1 0 BECN1 8678 broad.mit.edu 37 17 40966604 40966604 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:40966604A>G ENST00000361523.4 - 9 1050 c.918T>C c.(916-918)gcT>gcC p.A306A BECN1_ENST00000438274.3_Silent_p.A230A|BECN1_ENST00000590099.1_Silent_p.A306A NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 306 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding p.A306A(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TCTGGCCCCAAGCAGCATTAA 0.512000 28 91 0 0 0.030593 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33683976 33683976 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:33683976G>T ENST00000504830.1 - 4 1154 c.819C>A c.(817-819)acC>acA p.T273T ADAMTS12_ENST00000352040.3_Silent_p.T273T|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 273 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T273T(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGTTCATGATGGTGAGGATGT 0.463000 HNSCC(64;0.19) 25 59 1.04121e-07 1.22158e-07 0.027356 1 0 PLCE1 51196 broad.mit.edu 37 10 95791385 95791385 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:95791385C>T ENST00000260766.3 + 2 1216 c.582C>T c.(580-582)gaC>gaT p.D194D PLCE1_ENST00000371380.2_Silent_p.D194D NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 194 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.D194D(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) ATGAAGTTGACAGAAGAATGT 0.418000 17 68 0 0 0.038395 0 0 ALDOB 229 broad.mit.edu 37 9 104189921 104189921 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:104189921A>T ENST00000374855.4 - 5 507 c.383T>A c.(382-384)cTt>cAt p.L128H ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 128 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.L128H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) GAGGCCATCAAGCCCTGCAAG 0.498000 12 54 0 0 0.020292 0 0 RASA2 5922 broad.mit.edu 37 3 141327427 141327427 + Nonsense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:141327427C>T ENST00000286364.3 + 21 2148 c.2113C>T c.(2113-2115)Cga>Tga p.R705* RASA2_ENST00000452898.1_Nonsense_Mutation_p.R706*|RASA2_ENST00000509118.1_3'UTR Q15283 RASA2_HUMAN RAS p21 protein activator 2 705 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.R705*(2) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 CAGGGTGAGCCGATGCAATCA 0.448000 6 32 0 0 0.047766 0 0 FAT3 120114 broad.mit.edu 37 11 92087733 92087733 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:92087733A>G ENST00000298047.6 + 1 2472 c.2455A>G c.(2455-2457)Atc>Gtc p.I819V FAT3_ENST00000541502.1_Missense_Mutation_p.I819V|FAT3_ENST00000409404.2_Missense_Mutation_p.I819V|FAT3_ENST00000525166.1_Missense_Mutation_p.I669V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 819 Cadherin 7. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.I819V(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTGCTGACCATCAATGTGGA 0.403000 TCGA Ovarian(4;0.039) 23 46 0 0 0.021523 0 0 LOC645166 645166 broad.mit.edu 37 1 148932875 148932875 + RNA SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:148932875G>C ENST00000539543.1 + 0 131 NR_027355.1 GGTGGGAGACGGGTGAGGTAC 0.632000 77 331 0 0 0.048971 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409639 22409639 + RNA SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:22409639G>C ENST00000390441.2 + 0 185 TAAACTGCACGTACACAGCCA 0.488000 8 27 0 0 0.058154 0 0 HERC2 8924 broad.mit.edu 37 15 28414753 28414753 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:28414753C>A ENST00000261609.7 - 66 10214 c.10106G>T c.(10105-10107)gGt>gTt p.G3369V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3369 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G3369F(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATTACTTGCACCACTTATTTT 0.378000 23 94 7.92952e-12 1.03338e-11 0.021523 1 0 FLG 2312 broad.mit.edu 37 1 152277110 152277110 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:152277110C>A ENST00000368799.1 - 3 10287 c.10252G>T c.(10252-10254)Gca>Tca p.A3418S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3418 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.A3418S(1) 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) CTGTCTCGTGCCTGCTCGTGG 0.597000 Ichthyosis 103 676 3.34506e-74 5.91004e-74 0.048971 1 0 GPC6 10082 broad.mit.edu 37 13 94482405 94482405 + Splice_Site SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:94482405A>T ENST00000377047.4 + 3 934 c.e3-1 GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.?(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TTTTATCTGCAGAATTTTTCC 0.378000 21 43 0 0 0.018920 0 0 MURC 347273 broad.mit.edu 37 9 103348672 103348672 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:103348672A>T ENST00000307584.5 + 2 1099 c.1034A>T c.(1033-1035)aAa>aTa p.K345I NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 345 cell differentiation|muscle organ development|transcription, DNA-dependent p.K345I(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) GTTACTTTTAAATCTCAGGTG 0.423000 41 50 0 0 0.042209 0 0 HERC2 8924 broad.mit.edu 37 15 28414754 28414754 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:28414754C>A ENST00000261609.7 - 66 10213 c.10105G>T c.(10105-10107)Ggt>Tgt p.G3369C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3369 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G3369F(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTACTTGCACCACTTATTTTA 0.378000 24 93 2.48779e-11 3.15027e-11 0.027356 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253670 32253670 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:32253670C>G ENST00000332378.4 - 1 204 c.174G>C c.(172-174)gaG>gaC p.E58D NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 58 keratin filament structural molecule activity p.E58D(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 CACAGCAGGTCTCTTGACAGT 0.557000 28 67 0 0 0.024334 0 0 TRPM3 80036 broad.mit.edu 37 9 73151524 73151524 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:73151524G>T ENST00000377110.2 - 25 4712 c.4469C>A c.(4468-4470)cCt>cAt p.P1490H TRPM3_ENST00000377106.1_Missense_Mutation_p.P1362H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P1362H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P1339H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P1349H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P1517H|TRPM3_ENST00000396285.1_Missense_Mutation_p.P1349H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P1352H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P1349H|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.P1352H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P1494H NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1515 integral to membrane calcium channel activity p.P1362H(1)|p.P1490H(1)|p.P1494H(1) 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 GTACATCGGAGGCTCTGAGTC 0.493000 40 64 8.01111e-26 1.23909e-25 0.039052 1 0 EIF2B4 8890 broad.mit.edu 37 2 27590037 27590037 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:27590037C>A ENST00000493344.2 - 9 1292 c.980G>T c.(979-981)cGg>cTg p.R327L EIF2B4_ENST00000451130.2_Missense_Mutation_p.R326L|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R305L|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R306L|AC074117.10_ENST00000412749.1_RNA Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 306 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding p.R306L(1)|p.R326L(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGCACATACCGATCAATGGC 0.433000 72 181 4.18771e-30 6.78227e-30 0.048971 1 0 CACNA1H 8912 broad.mit.edu 37 16 1250434 1250434 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:1250434G>A ENST00000348261.5 + 7 1230 c.982G>A c.(982-984)Gag>Aag p.E328K CACNA1H_ENST00000565831.1_Missense_Mutation_p.E328K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E328K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 328 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity p.E328K(4) breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCCGCAGGCCGAGGGGGTGGG 0.667000 11 24 0 0 0.020292 0 0 KRT33B 3884 broad.mit.edu 37 17 39521447 39521447 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:39521447G>T ENST00000251646.3 - 5 905 c.856C>A c.(856-858)Ctg>Atg p.L286M NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 286 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity p.L286M(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TGGGCCTGCAGCTCGATCTCC 0.592000 45 176 2.23044e-30 3.62547e-30 0.048971 1 0 OR13C2 392376 broad.mit.edu 37 9 107367202 107367202 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:107367202T>A ENST00000542196.1 - 1 749 c.707A>T c.(706-708)aAa>aTa p.K236I NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K236I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AGAGGAAGCTTTGCTTCTCCC 0.393000 31 55 0 0 0.054565 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454289 84454289 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:84454289G>A ENST00000377084.2 - 1 2239 c.1354C>T c.(1354-1356)Ctg>Ttg p.L452L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 452 integral to membrane p.L452L(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCCACGTTCAGGTACTCTAGG 0.512000 54 139 0 0 0.048971 0 0 SYNM 23336 broad.mit.edu 37 15 99673193 99673193 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:99673193C>T ENST00000336292.6 + 5 4745 c.4625C>T c.(4624-4626)tCa>tTa p.S1542L SYNM_ENST00000328642.7_Missense_Mutation_p.S1230L|SYNM_ENST00000560674.1_Missense_Mutation_p.S945L|SYNM_ENST00000561323.1_3'UTR NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1543 Interaction with DMD and UTRN.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding p.S1230L(1)|p.S1542L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 TCGGTGATTTCAGATGAAAAG 0.468000 6 39 0 0 0.021553 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67241985 67241985 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:67241985G>T ENST00000282670.2 + 4 363 c.235G>T c.(235-237)Gtc>Ttc p.V79F NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 79 p.V79F(1) large_intestine(2)|lung(10)|skin(1) 13 TTTTCCTGTGGTCACCGTCAA 0.358000 15 32 3.99206e-14 5.40742e-14 0.043863 1 0 MYL2 4633 broad.mit.edu 37 12 111356969 111356969 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:111356969C>A ENST00000228841.8 - 2 79 c.32G>T c.(31-33)gGg>gTg p.G11V MYL2_ENST00000548438.1_Missense_Mutation_p.G11V NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 11 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle p.G11V(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 GTTGGCGCCCCCGGCTCTCTT 0.502000 10 41 6.40141e-05 6.94522e-05 0.010729 1 0 C8orf74 203076 broad.mit.edu 37 8 10555360 10555360 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:10555360G>T ENST00000304519.5 + 3 522 c.493G>T c.(493-495)Gag>Tag p.E165* RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 165 p.E165*(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) GTGGATCCACGAGCAGCAGGT 0.677000 26 45 3.1745e-13 4.2485e-13 0.037714 1 0 CTDNEP1 23399 broad.mit.edu 37 17 7150664 7150664 + Splice_Site SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:7150664T>A ENST00000573600.1 - 3 524 c.e3-2 CTDNEP1_ENST00000574322.1_Splice_Site|CTDNEP1_ENST00000318988.6_Splice_Site|CTDNEP1_ENST00000572043.1_Splice_Site|RP1-4G17.5_ENST00000577138.1_Splice_Site O95476 CNEP1_HUMAN CTD nuclear envelope phosphatase 1 nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity p.?(1) central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 15 CTGAATTACCTACAAATAGCA 0.438000 27 34 0 0 0.024334 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072376 17072376 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072376C>G ENST00000359963.3 - 1 1324 c.1065G>C c.(1063-1065)ctG>ctC p.L355L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 355 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.L355L(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) AACCATCTCCCAGCTCCTGCC 0.587000 40 120 0 0 0.048971 0 0 RELN 5649 broad.mit.edu 37 7 103126853 103126853 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:103126853G>T ENST00000428762.1 - 61 9933 c.9774C>A c.(9772-9774)tgC>tgA p.C3258* RELN_ENST00000343529.5_Nonsense_Mutation_p.C3258*|RELN_ENST00000424685.2_Nonsense_Mutation_p.C3258*|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3258 EGF-like 8. 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 p.C3258*(1) 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) TGAAAACAGAGCAGTCATCAC 0.423000 41 35 3.54561e-26 5.52225e-26 0.036044 1 0 ZNF646 9726 broad.mit.edu 37 16 31092914 31092914 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31092914C>T ENST00000394979.2 + 1 5692 c.5269C>T c.(5269-5271)Cgg>Tgg p.R1757W ZNF646_ENST00000300850.5_Missense_Mutation_p.R1757W O15015 ZN646_HUMAN zinc finger protein 646 1757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R1757W(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCATGCACCCCGGGAGGGGCC 0.692000 19 121 0 0 0.043863 0 0 NEURL1 9148 broad.mit.edu 37 10 105330758 105330758 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:105330758C>T ENST00000369780.4 + 2 624 c.215C>T c.(214-216)tCc>tTc p.S72F NEURL_ENST00000369777.2_Missense_Mutation_p.S55F NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 72 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding p.S72F(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) ACCAAGGGCTCCCAGATCCTC 0.637000 65 161 0 0 0.048971 0 0 CANX 821 broad.mit.edu 37 5 179149988 179149988 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:179149988G>T ENST00000247461.4 + 11 1566 c.1366G>T c.(1366-1368)Ggc>Tgc p.G456C CANX_ENST00000415618.2_Missense_Mutation_p.G491C|CANX_ENST00000512607.2_Missense_Mutation_p.G348C|CANX_ENST00000452673.2_Missense_Mutation_p.G456C|CANX_ENST00000504734.1_Missense_Mutation_p.G456C NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 456 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding p.G456C(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATGGATGGGGCCTGAAGAA 0.438000 22 129 2.48779e-11 3.15027e-11 0.027356 1 0 SORL1 6653 broad.mit.edu 37 11 121403215 121403215 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:121403215G>A ENST00000260197.7 + 12 1768 c.1639G>A c.(1639-1641)Gga>Aga p.G547R SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 547 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.G547R(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AGACCACGGCGGAATCATCAC 0.483000 4 69 0 0 0.009096 0 0 BAGE2 85319 broad.mit.edu 37 21 11049484 11049484 + RNA SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:11049484G>C ENST00000470054.1 - 0 624 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAGGACATTGCCAACCTGCA 0.438000 9 155 0 0 0.016723 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127206 45127206 + RNA SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:45127206G>C ENST00000575173.1 - 0 418 GTGAGAGACAGATGGAAAGAC 0.458000 61 135 0 0 0.048971 0 0 TTC37 9652 broad.mit.edu 37 5 94863722 94863722 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:94863722C>A ENST00000358746.2 - 13 1427 c.1129G>T c.(1129-1131)Gat>Tat p.D377Y NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 377 binding p.D377Y(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TCTACCTGATCAAGCGTACGA 0.368000 7 16 0.0293803 0.0301216 0.029380 1 0 GC 2638 broad.mit.edu 37 4 72631270 72631270 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:72631270C>A ENST00000273951.8 - 4 695 c.352G>T c.(352-354)Gaa>Taa p.E118* GC_ENST00000504199.1_Nonsense_Mutation_p.E137*|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Nonsense_Mutation_p.E118* NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 118 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity p.E118*(1)|p.E137*(1) endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AGCTTTCGTTCCAGGCCCTCT 0.527000 28 75 5.60225e-13 7.45299e-13 0.041601 1 0 TTN 7273 broad.mit.edu 37 2 179422644 179422644 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179422644A>T ENST00000589042.1 - 328 87661 c.87437T>A c.(87436-87438)gTt>gAt p.V29146D TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26578D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V20081D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20273D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20206D|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27505D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27505 Fibronectin type-III 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V20081D(1)|p.V26578D(1)|p.V20273D(1)|p.V26576D(1)|p.V20206D(1) 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) ATCACTAATAACAACAGGGCC 0.433000 45 260 0 0 0.048971 0 0 GABBR1 2550 broad.mit.edu 37 6 29574725 29574725 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:29574725G>A ENST00000377034.4 - 18 2501 c.2166C>T c.(2164-2166)gtC>gtT p.V722V GABBR1_ENST00000377012.4_Silent_p.V605V|GABBR1_ENST00000377016.4_Silent_p.V660V|GABBR1_ENST00000355973.3_Silent_p.V605V|GABBR1_ENST00000376977.3_3'UTR NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 722 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.V722V(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CGAGAGTGAGGACATCCATGC 0.572000 35 94 0 0 0.023175 0 0 PLGLA 285189 broad.mit.edu 37 2 107007493 107007493 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:107007493C>A ENST00000484422.1 + 0 342 CTTTCCCTTTCATCTTTGTGT 0.458000 4 11 0.00909568 0.0094115 0.009096 1 0 PTPRN2 5799 broad.mit.edu 37 7 157414082 157414082 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:157414082G>T ENST00000389413.3 - 14 2332 c.2229C>A c.(2227-2229)ccC>ccA p.P743P PTPRN2_ENST00000404321.2_Silent_p.P795P|PTPRN2_ENST00000409483.1_Silent_p.P734P|PTPRN2_ENST00000389416.4_Silent_p.P755P|PTPRN2_ENST00000389418.4_Silent_p.P772P NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 772 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P772P(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGCGGTTCTTGGGCACGTTCT 0.637000 8 537 1.58986e-06 1.79462e-06 0.008291 1 0 POPDC3 64208 broad.mit.edu 37 6 105609367 105609367 + Missense_Mutation SNP T T G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:105609367T>G ENST00000254765.3 - 2 696 c.418A>C c.(418-420)Aag>Cag p.K140Q BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580511.1_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 140 integral to membrane p.K140Q(1) NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) CAGTGTTCCTTTTCCAAAGTA 0.453000 54 145 0 0 0.048971 0 0 NLRP7 199713 broad.mit.edu 37 19 55450745 55450745 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:55450745G>C ENST00000588756.1 - 6 1928 c.1442C>G c.(1441-1443)gCc>gGc p.A481G NLRP7_ENST00000592784.1_Missense_Mutation_p.A481G|NLRP7_ENST00000590030.1_Missense_Mutation_p.A481G|NLRP7_ENST00000448121.2_Missense_Mutation_p.A481G|NLRP7_ENST00000446217.1_Missense_Mutation_p.A509G|NLRP7_ENST00000340844.2_Missense_Mutation_p.A481G|NLRP7_ENST00000328092.5_Missense_Mutation_p.A481G Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 481 NACHT. A -> T (in Ref. 4; AAI09126). ATP binding p.A481G(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CTTCTCCAGGGCGTAGAACAG 0.592000 41 83 0 0 0.048971 0 0 A1BG 1 broad.mit.edu 37 19 58858921 58858921 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:58858921G>T ENST00000263100.3 - 7 1339 c.1278C>A c.(1276-1278)ccC>ccA p.P426P A1BG_ENST00000596924.1_5'UTR NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 426 Ig-like V-type 5. extracellular region p.P426P(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CGTCGGGGATGGGTCCCTCGC 0.741000 10 16 3.07112e-06 3.44058e-06 0.010729 1 0 BCMO1 53630 broad.mit.edu 37 16 81320986 81320986 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:81320986G>A ENST00000258168.2 + 10 1850 c.1389G>A c.(1387-1389)gcG>gcA p.A463A BCMO1_ENST00000425577.2_Silent_p.A394A NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 463 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity p.A463A(1) breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TTGTGCCCGCGCCAGGTGCCA 0.517000 59 102 0 0 0.048971 0 0 NOS1AP 9722 broad.mit.edu 37 1 162313767 162313767 + Splice_Site SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:162313767G>C ENST00000361897.5 + 6 997 c.e6+1 NOS1AP_ENST00000530878.1_Splice_Site NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding p.?(2) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GGAGACCCAGGTAGGCACTGC 0.582000 48 31 0 0 0.048971 0 0 SPTB 6710 broad.mit.edu 37 14 65216089 65216089 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:65216089G>T ENST00000389722.3 - 35 6975 c.6922C>A c.(6922-6924)Ccc>Acc p.P2308T SPTB_ENST00000556626.1_Missense_Mutation_p.P2308T|SPTB_ENST00000342835.4_5'UTR NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 0 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.P2308T(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTGGCGTCGGGGCCGGAGAGG 0.652000 8 9 1.58986e-06 1.79462e-06 0.008291 1 0 MYH15 22989 broad.mit.edu 37 3 108159970 108159970 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:108159970C>A ENST00000273353.3 - 24 2909 c.2853G>T c.(2851-2853)agG>agT p.R951S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 951 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R951S(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GTTTCCGCCCCCTGGCAGTCA 0.478000 23 94 1.9806e-07 2.29955e-07 0.014323 1 0 OR5A2 219981 broad.mit.edu 37 11 59190046 59190046 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:59190046G>C ENST00000302040.4 - 1 403 c.381C>G c.(379-381)atC>atG p.I127M NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I127M(1) large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 AGGGGTTGCAGATTGCAGCAT 0.478000 4 52 0 0 0.009096 0 0 NEK9 91754 broad.mit.edu 37 14 75573382 75573382 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:75573382C>A ENST00000238616.5 - 12 1509 c.1351G>T c.(1351-1353)Gga>Tga p.G451* NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 451 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity p.G451*(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) TAATCTGATCCGAAGGCATAG 0.468000 17 40 1.87028e-06 2.10583e-06 0.062417 1 0 TNR 7143 broad.mit.edu 37 1 175324739 175324739 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:175324739C>A ENST00000367674.1 - 17 3857 c.3149G>T c.(3148-3150)aGt>aTt p.S1050I TNR_ENST00000263525.2_Missense_Mutation_p.S1050I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1050 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.S1050I(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGTGACTTCACTGGCTGTCAG 0.552000 89 51 3.10586e-51 5.38108e-51 0.048971 1 0 GRM1 2911 broad.mit.edu 37 6 146720730 146720730 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:146720730C>A ENST00000392299.2 + 8 3025 c.2555C>A c.(2554-2556)aCc>aAc p.T852N GRM1_ENST00000361719.2_Missense_Mutation_p.T852N|GRM1_ENST00000492807.2_Missense_Mutation_p.T852N|GRM1_ENST00000355289.4_Missense_Mutation_p.T852N|GRM1_ENST00000282753.1_Missense_Mutation_p.T852N|GRM1_ENST00000507907.1_Missense_Mutation_p.T852N Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 852 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.T852N(2) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GCCTTCACCACCTCTGATGTT 0.532000 18 54 6.94344e-10 8.57381e-10 0.038395 1 0 STK36 27148 broad.mit.edu 37 2 219562210 219562210 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:219562210C>T ENST00000295709.3 + 24 3065 c.2786C>T c.(2785-2787)gCc>gTc p.A929V STK36_ENST00000440309.1_Missense_Mutation_p.A929V|STK36_ENST00000392105.3_Missense_Mutation_p.A908V|STK36_ENST00000392106.2_Missense_Mutation_p.A908V NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 929 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.A929V(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTGAGCCTGGCCATGGCCACC 0.587000 17 61 0 0 0.038395 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180669 142180669 + RNA SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:142180669G>T ENST00000390368.2 - 0 255 TAATGAATCAGCCTCAGCCCC 0.517000 163 287 1.36702e-90 2.43449e-90 0.048971 1 0 SULT1C3 442038 broad.mit.edu 37 2 108881745 108881745 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:108881745T>C ENST00000329106.2 + 7 853 c.853T>C c.(853-855)Ttt>Ctt p.F285L NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 285 cytoplasm alcohol sulfotransferase activity p.F285L(1) breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAATGAAGAATTTGACAAGGA 0.473000 22 56 0 0 0.024334 0 0 HELQ 113510 broad.mit.edu 37 4 84348734 84348734 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:84348734C>A ENST00000295488.3 - 13 2820 c.2658G>T c.(2656-2658)tgG>tgT p.W886C HELQ_ENST00000510985.1_Missense_Mutation_p.W819C NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 886 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.W886C(1) breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AGTATATCATCCAATCAGGGT 0.368000 Other identified genes with known or suspected DNA repair function 32 77 3.03874e-20 4.49774e-20 0.059317 1 0 MOXD1 26002 broad.mit.edu 37 6 132695975 132695975 + Translation_Start_Site SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:132695975A>T ENST00000336749.3 - 1 229 c.2T>A c.(1-3)aTg>aAg p.M1K MOXD1_ENST00000367963.3_Intron Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 0 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) AAAAGAATTCATAGGACCTTT 0.358000 3 9 0 0 0.004672 0 0 TINAG 27283 broad.mit.edu 37 6 54191689 54191689 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:54191689T>A ENST00000259782.4 + 4 695 c.599T>A c.(598-600)aTg>aAg p.M200K TINAG_ENST00000370864.3_Missense_Mutation_p.M182K|TINAG_ENST00000370869.3_Missense_Mutation_p.M196K NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 200 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.M200K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CCTAGTCCCATGCTCCTGAGC 0.393000 39 67 0 0 0.036044 0 0 ATP8A2 51761 broad.mit.edu 37 13 26148945 26148945 + Splice_Site SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:26148945G>C ENST00000381655.2 + 19 1804 c.e19-1 ATP8A2_ENST00000255283.8_Splice_Site|ATP8A2_ENST00000491840.1_Splice_Site NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 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 p.?(1) 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) TCTTCCTTTAGATGGGACAGG 0.333000 22 41 0 0 0.027356 0 0 TAGLN2 8407 broad.mit.edu 37 1 159888698 159888698 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:159888698A>G ENST00000368097.4 - 5 802 c.492T>C c.(490-492)gaT>gaC p.D164D TAGLN2_ENST00000320307.4_Silent_p.D164D|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.D185D NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 164 muscle organ development nuclear membrane|plasma membrane protein binding p.D164D(1) endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAGCTGGTTATCCGAGAAGT 0.567000 34 256 0 0 0.021022 0 0 SLC22A11 55867 broad.mit.edu 37 11 64331815 64331815 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:64331815A>T ENST00000301891.4 + 5 1231 c.857A>T c.(856-858)aAg>aTg p.K286M SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.K286M|SLC22A11_ENST00000377585.3_Missense_Mutation_p.K286M NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 286 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity p.K286M(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CTGATTATTAAGGGCAAACCA 0.587000 26 79 0 0 0.037714 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 86 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179610734 179610734 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:179610734G>T ENST00000360870.5 - 46 16615 c.16393C>A c.(16393-16395)Cgg>Agg p.R5465R TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8972 Ig-like 35. 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) AGGAATCCCCGACAGATAGCC 0.408000 36 92 1.04594e-18 1.52291e-18 0.025465 1 0 TENM2 57451 broad.mit.edu 37 5 167674480 167674480 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:167674480A>G ENST00000519204.1 + 26 6291 c.6173A>G c.(6172-6174)tAt>tGt p.Y2058C TENM2_ENST00000545108.1_Missense_Mutation_p.Y2178C|TENM2_ENST00000518659.1_Missense_Mutation_p.Y2179C|TENM2_ENST00000403607.2_Missense_Mutation_p.Y2003C|TENM2_ENST00000520394.1_Missense_Mutation_p.Y1940C teneurin transmembrane protein 2 p.Y2179C(1)|p.Y2058C(1)|p.Y2012C(1) ACGGTGCAATATGACAGCATG 0.552000 24 71 0 0 0.027356 0 0 DIS3L2 129563 broad.mit.edu 37 2 233075098 233075098 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:233075098G>T ENST00000325385.7 + 10 1463 c.1187G>T c.(1186-1188)tGc>tTc p.C396F DIS3L2_ENST00000273009.6_Missense_Mutation_p.C396F|DIS3L2_ENST00000409307.1_Missense_Mutation_p.C396F NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 396 exonuclease activity|ribonuclease activity|RNA binding p.C396F(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GCCCTCTCCTGCAAGCCACTC 0.507000 19 57 6.32553e-13 8.39024e-13 0.024334 1 0 ATP8B2 57198 broad.mit.edu 37 1 154317977 154317977 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:154317977A>T ENST00000368489.3 + 23 2749 c.2749A>T c.(2749-2751)Atg>Ttg p.M917L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 903 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.M917L(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGCTTTCACCATGGTCCACTT 0.493000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 1156 0 0 0.048971 0 0 OR51D1 390038 broad.mit.edu 37 11 4661752 4661752 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:4661752G>T ENST00000357605.2 + 1 808 c.732G>T c.(730-732)cgG>cgT p.R244R NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R244R(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCCTCTCGGAGGGCAGCAC 0.527000 65 151 1.7104e-27 2.71116e-27 0.048971 1 0 SON 6651 broad.mit.edu 37 21 34922564 34922564 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:34922564C>T ENST00000356577.4 + 3 1502 c.1027C>T c.(1027-1029)Cct>Tct p.P343S SON_ENST00000300278.4_Missense_Mutation_p.P343S|SON_ENST00000381679.4_Missense_Mutation_p.P343S|SON_ENST00000290239.6_Missense_Mutation_p.P343S|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 343 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding p.P343S(2) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 GCCAGAGCAGCCTGTAGACGT 0.517000 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 49 101 0 0 0.048971 0 0 RAD21 5885 broad.mit.edu 37 8 117868465 117868465 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:117868465G>C ENST00000297338.2 - 8 1164 c.877C>G c.(877-879)Caa>Gaa p.Q293E NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 293 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding p.Q293E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) AGTGTTGTTTGATCAGTCATG 0.363000 3 73 0 0 0.004672 0 0 POTED 317754 broad.mit.edu 37 21 14983042 14983042 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:14983042G>T ENST00000299443.5 + 1 545 c.493G>T c.(493-495)Gac>Tac p.D165Y NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 165 plasma membrane p.D165Y(1) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 CAGGGACACTGACATGAACAA 0.577000 18 106 2.48779e-11 3.15027e-11 0.027356 1 0 ADAM9 8754 broad.mit.edu 37 8 38884248 38884248 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:38884248G>T ENST00000487273.2 + 11 1127 c.1049G>T c.(1048-1050)gGt>gTt p.G350V NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 350 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding p.G350V(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) CATGAATTGGGTCATAATCTT 0.423000 49 102 3.76525e-18 5.39444e-18 0.048971 1 0 USP48 84196 broad.mit.edu 37 1 22083110 22083110 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:22083110C>T ENST00000308271.9 - 3 989 c.341G>A c.(340-342)cGg>cAg p.R114Q USP48_ENST00000400301.1_Missense_Mutation_p.R114Q|USP48_ENST00000529637.1_Missense_Mutation_p.R114Q|USP48_ENST00000421625.2_Missense_Mutation_p.R114Q NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 114 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R114Q(1) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GAGTGCCTGCCGAAGCTCCAA 0.468000 31 157 0 0 0.034045 0 0 SERPINE1 5054 broad.mit.edu 37 7 100771819 100771819 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:100771819G>T ENST00000223095.4 + 2 302 c.145G>T c.(145-147)Gcc>Tcc p.A49S SERPINE1_ENST00000445463.2_Missense_Mutation_p.A34S NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 49 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity p.A49S(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GGTGGCGCAGGCCTCCAAGGA 0.602000 31 49 2.08457e-15 2.87593e-15 0.045705 1 0 USP54 159195 broad.mit.edu 37 10 75258547 75258547 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:75258547C>T ENST00000339859.4 - 23 4995 c.4895G>A c.(4894-4896)cGa>cAa p.R1632Q RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.R1482Q|USP54_ENST00000422491.2_Missense_Mutation_p.R767Q|RP11-137L10.6_ENST00000442133.3_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.R673Q|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.R1632Q Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1632 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity p.R1632Q(1)|p.R715Q(1) breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ATCTACTCTTCGAGGACCAGG 0.517000 15 117 0 0 0.024245 0 0 OLA1 29789 broad.mit.edu 37 2 175111467 175111467 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:175111467C>A ENST00000284719.3 - 2 323 c.77G>T c.(76-78)gGt>gTt p.G26V OLA1_ENST00000428402.2_Missense_Mutation_p.G26V|OLA1_ENST00000344357.5_Intron|OLA1_ENST00000409546.1_Missense_Mutation_p.G46V NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 26 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding p.G26V(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TCCAACAATACCAATTTTCAG 0.398000 31 100 1.45844e-13 1.96362e-13 0.054565 1 0 ADAM2 2515 broad.mit.edu 37 8 39624713 39624713 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:39624713C>A ENST00000265708.4 - 13 1373 c.1270G>T c.(1270-1272)Ggt>Tgt p.G424C ADAM2_ENST00000379853.2_Missense_Mutation_p.G298C|ADAM2_ENST00000347580.4_Missense_Mutation_p.G405C|ADAM2_ENST00000521880.1_Missense_Mutation_p.G424C NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 424 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.G424C(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CAGTTTGAACCGGCTTTAAAT 0.358000 65 161 5.96624e-29 9.55882e-29 0.048971 1 0 FAT4 79633 broad.mit.edu 37 4 126239750 126239750 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:126239750A>G ENST00000394329.3 + 1 2197 c.2184A>G c.(2182-2184)atA>atG p.I728M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 728 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I728M(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AATATAGCATATCTGCTGGGG 0.468000 20 92 0 0 0.062417 0 0 FBXO18 84893 broad.mit.edu 37 10 5955787 5955787 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:5955787C>T ENST00000379999.5 + 8 1546 c.1442C>T c.(1441-1443)cCa>cTa p.P481L FBXO18_ENST00000362091.4_Missense_Mutation_p.P430L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.P167L NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 430 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.P481L(1) NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AAAGAGGAGCCATCTGTCTGG 0.413000 33 54 0 0 0.050027 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806427 6806427 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:6806427C>A ENST00000307401.4 + 1 180 c.159C>A c.(157-159)gcC>gcA p.A53A NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.(=)(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCATGGAAGCCCGGCTCCACA 0.542000 79 160 2.02726e-29 3.25966e-29 0.048971 1 0 IMPG2 50939 broad.mit.edu 37 3 100963143 100963143 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:100963143C>A ENST00000193391.7 - 13 2219 c.2032G>T c.(2032-2034)Gag>Tag p.E678* NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 678 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity p.E678*(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGCTCTTCCTCTGGAAAGTGT 0.448000 17 25 9.16793e-09 1.1046e-08 0.033300 1 0 LRBA 987 broad.mit.edu 37 4 151773298 151773298 + Silent SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:151773298T>A ENST00000535741.1 - 23 4037 c.3564A>T c.(3562-3564)tcA>tcT p.S1188S LRBA_ENST00000507224.1_Silent_p.S1188S|LRBA_ENST00000357115.3_Silent_p.S1188S|LRBA_ENST00000510413.1_Silent_p.S1188S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1188 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding p.S1188S(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GTGACATAGCTGAAGACCCTG 0.398000 18 47 0 0 0.055883 0 0 DNAH17 8632 broad.mit.edu 37 17 76567765 76567765 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:76567765G>T ENST00000389840.5 - 4 763 c.639C>A c.(637-639)gcC>gcA p.A213A DNAH17_ENST00000585328.1_Silent_p.A213A dynein, axonemal, heavy chain 17 p.A213A(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCAGCGCCTGGGCTGAGTCTT 0.592000 29 156 6.04164e-23 9.1237e-23 0.045705 1 0 ZNF142 7701 broad.mit.edu 37 2 219503486 219503486 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:219503486C>A ENST00000411696.2 - 9 5419 c.4640G>T c.(4639-4641)cGg>cTg p.R1547L ZNF142_ENST00000449707.1_Missense_Mutation_p.R1547L P52746 ZN142_HUMAN zinc finger protein 142 1547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1384L(1)|p.R1547L(1) breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCATCAGCCCGGTTGGTGCA 0.572000 12 32 1.02788e-11 1.33565e-11 0.033300 1 0 RFX3 5991 broad.mit.edu 37 9 3263012 3263012 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:3263012G>C ENST00000382004.3 - 14 1839 c.1528C>G c.(1528-1530)Cgt>Ggt p.R510G RFX3_ENST00000358730.2_Missense_Mutation_p.R510G|RFX3_ENST00000302303.1_Missense_Mutation_p.R510G NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 510 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding p.R510G(2) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) AGCACTGCACGAGCTGCCTGG 0.493000 38 61 0 0 0.027894 0 0 UTRN 7402 broad.mit.edu 37 6 144844318 144844318 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:144844318G>T ENST00000367545.3 + 40 5900 c.5900G>T c.(5899-5901)cGg>cTg p.R1967L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1967 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.R1967L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TACAGTGATCGGAAAGGGTAT 0.378000 23 32 4.26978e-12 5.59704e-12 0.018920 1 0 SUPT6H 6830 broad.mit.edu 37 17 27011938 27011938 + Nonsense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:27011938A>T ENST00000314616.6 + 19 2729 c.2446A>T c.(2446-2448)Aaa>Taa p.K816* SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.K816* NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 816 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity p.K816*(1) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CCATTTTACCAAACGGCGAAC 0.493000 47 49 0 0 0.048971 0 0 DCAF16 54876 broad.mit.edu 37 4 17805366 17805366 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:17805366C>A ENST00000382247.1 - 3 1459 c.399G>T c.(397-399)cgG>cgT p.R133R DCAF16_ENST00000536863.1_Silent_p.R133R NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 133 CUL4 RING ubiquitin ligase complex p.R133R(1) cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 CTCTAGAGAGCCGGCTGGGAC 0.502000 75 144 1.32764e-51 2.30916e-51 0.048971 1 0 SLC51A 200931 broad.mit.edu 37 3 195953990 195953990 + Splice_Site SNP G G A rs139345051 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:195953990G>A ENST00000296327.5 + 3 497 c.288_splice c.e3+1 p.T96_splice NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit p.T96T(1) CGGCACCCACGGTGAGGCCCC 0.577000 21 103 0 0 0.027356 0 0 PRRC2B 84726 broad.mit.edu 37 9 134334625 134334625 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:134334625G>C ENST00000357304.4 + 10 1341 c.1286G>C c.(1285-1287)cGa>cCa p.R429P PRRC2B_ENST00000458550.1_Missense_Mutation_p.R429P|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R429P|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 429 protein binding p.R429P(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 AAGCGGACTCGAGAGGAAGGG 0.592000 39 111 0 0 0.039052 0 0 ARMC5 79798 broad.mit.edu 37 16 31476156 31476156 + Silent SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31476156T>C ENST00000457010.2 + 4 2513 c.1812T>C c.(1810-1812)gaT>gaC p.D604D ARMC5_ENST00000563544.1_Silent_p.D604D|ARMC5_ENST00000408912.3_Silent_p.D699D|ARMC5_ENST00000538189.1_Silent_p.D636D|ARMC5_ENST00000268314.4_Silent_p.D604D|ARMC5_ENST00000412665.2_Silent_p.D248D NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 604 binding p.D699D(1)|p.D604D(1) central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGCCTGACGATTGGCCGGCAC 0.701000 8 10 0 0 0.013537 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072228 17072228 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072228C>G ENST00000359963.3 - 1 1472 c.1213G>C c.(1213-1215)Gat>Cat p.D405H NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 405 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.D405H(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) AGTCTGGGATCTTGACATAGC 0.557000 34 60 0 0 0.064281 0 0 GPS1 2873 broad.mit.edu 37 17 80011904 80011904 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:80011904G>A ENST00000392358.2 + 3 756 c.407G>A c.(406-408)cGc>cAc p.R136H GPS1_ENST00000320548.4_Missense_Mutation_p.R80H|GPS1_ENST00000306823.6_Missense_Mutation_p.R96H|GPS1_ENST00000578552.1_Missense_Mutation_p.R96H|GPS1_ENST00000355130.2_Missense_Mutation_p.R136H NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 96 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding p.R136H(1) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GAGATCCACCGCAAGCTCTCA 0.632000 25 21 0 0 0.037714 0 0 NOV 4856 broad.mit.edu 37 8 120431528 120431528 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:120431528G>T ENST00000259526.3 + 4 947 c.720G>T c.(718-720)caG>caT p.Q240H NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 240 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding p.Q240H(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCTGAAACAGACTCGGCTCT 0.547000 51 151 1.27334e-21 1.91e-21 0.048971 1 0 KCNK17 89822 broad.mit.edu 37 6 39278775 39278775 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:39278775G>A ENST00000453413.2 - 2 386 c.246C>T c.(244-246)gtC>gtT p.V82V KCNK17_ENST00000373231.4_Silent_p.V82V NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 82 integral to membrane potassium channel activity|voltage-gated ion channel activity p.V82V(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 TGTATGCTTGGACGACATCCT 0.562000 43 122 0 0 0.039052 0 0 CSF1R 1436 broad.mit.edu 37 5 149435795 149435795 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:149435795A>G ENST00000286301.3 - 18 2720 c.2429T>C c.(2428-2430)aTt>aCt p.I810T NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 810 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity p.I810T(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GCCCTTGACAATGTAGTTGGA 0.592000 78 113 0 0 0.048971 0 0 SPTA1 6708 broad.mit.edu 37 1 158615031 158615031 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:158615031C>A ENST00000368148.3 - 29 4321 c.4141G>T c.(4141-4143)Gag>Tag p.E1381* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E1381* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1381 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.E1381*(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) CAAGCCTTCTCCAAATCATCT 0.448000 144 140 1.97865e-72 3.48211e-72 0.048971 1 0 TRPA1 8989 broad.mit.edu 37 8 72984007 72984007 + Nonsense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:72984007A>T ENST00000262209.4 - 2 414 c.207T>A c.(205-207)taT>taA p.Y69* NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 69 integral to plasma membrane p.Y69*(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTGCTGCAGCATAATGCAAGA 0.353000 8 28 0 0 0.047766 0 0 OR10J3 441911 broad.mit.edu 37 1 159284169 159284169 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:159284169G>A ENST00000332217.5 - 1 280 c.281C>T c.(280-282)gCc>gTc p.A94V NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A94V(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GCTTTGGGTGGCAATGGGCTG 0.498000 8 142 0 0 0.038147 0 0 DNAH17 8632 broad.mit.edu 37 17 76525628 76525628 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:76525628G>A ENST00000389840.5 - 22 3557 c.3433C>T c.(3433-3435)Ccc>Tcc p.P1145S DNAH17_ENST00000585328.1_Missense_Mutation_p.P1142S dynein, axonemal, heavy chain 17 p.P1142S(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCTTCAGGGGCTCAAACATG 0.582000 5 335 0 0 0.021553 0 0 ZNF483 158399 broad.mit.edu 37 9 114305028 114305028 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:114305028A>G ENST00000309235.5 + 6 1971 c.1813A>G c.(1813-1815)Aaa>Gaa p.K605E ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 605 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K605E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CACTGGAGAAAAACCATATTT 0.378000 22 31 0 0 0.014323 0 0 MROH2B 133558 broad.mit.edu 37 5 41004553 41004553 + Silent SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:41004553A>G ENST00000399564.4 - 37 4539 c.4089T>C c.(4087-4089)tgT>tgC p.C1363C MROH2B_ENST00000506092.2_Silent_p.C918C NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.C1363C(1) TCAAGCTTTCACAGACGACTT 0.423000 32 91 0 0 0.050027 0 0 MS4A4A 51338 broad.mit.edu 37 11 60064740 60064740 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:60064740C>T ENST00000355131.3 + 4 438 c.215C>T c.(214-216)aCt>aTt p.T72I MS4A4A_ENST00000395016.3_Missense_Mutation_p.T72I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T91I|MS4A4A_ENST00000337908.4_Missense_Mutation_p.T91I NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 91 integral to membrane receptor activity p.T72I(1)|p.T91I(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 GCATCTAATACTTATGGAAGT 0.373000 13 39 0 0 0.016723 0 0 MKRN3 7681 broad.mit.edu 37 15 23811308 23811308 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:23811308G>T ENST00000314520.3 + 1 855 c.379G>T c.(379-381)Gcc>Tcc p.A127S MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 127 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.A127S(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCGGAAGATGGCCACTGAGGG 0.602000 48 87 2.43468e-25 3.73987e-25 0.048971 1 0 TRBV7-3 28595 broad.mit.edu 37 7 142247218 142247218 + RNA SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:142247218G>T ENST00000390361.3 - 0 287 CGATCGTTGGGCAGCCCTGAG 0.572000 38 33 2.87052e-16 4.03498e-16 0.023175 1 0 CSMD3 114788 broad.mit.edu 37 8 113702259 113702259 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:113702259C>G ENST00000297405.5 - 14 2237 c.1993G>C c.(1993-1995)Ggt>Cgt p.G665R CSMD3_ENST00000352409.3_Missense_Mutation_p.G665R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G625R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G561R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 665 Sushi 3. integral to membrane|plasma membrane p.G665R(1)|p.G625R(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCAGGATCACCACAACTTTCT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 60 0 0 0.027894 0 0 OR10J1 26476 broad.mit.edu 37 1 159410018 159410018 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:159410018T>A ENST00000423932.3 + 1 507 c.470T>A c.(469-471)cTg>cAg p.L157Q RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 157 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.L157Q(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CAACTTGTCCTGGGGGCCTGC 0.498000 150 116 0 0 0.048971 0 0 KLHL1 57626 broad.mit.edu 37 13 70413137 70413137 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:70413137T>C ENST00000377844.4 - 6 2144 c.1385A>G c.(1384-1386)tAt>tGt p.Y462C KLHL1_ENST00000545028.1_Missense_Mutation_p.Y269C NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 462 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.Y462C(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCCTACAGCATACAAAGTTCC 0.348000 4 7 0 0 0.009096 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073395 17073395 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17073395C>T ENST00000359963.3 - 1 305 c.46G>A c.(46-48)Gca>Aca p.A16T NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 16 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A16T(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) GGGTTCAGTGCCAGCCGCTGG 0.647000 20 46 0 0 0.018920 0 0 FST 10468 broad.mit.edu 37 5 52778792 52778792 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:52778792C>A ENST00000396947.3 + 2 334 c.168C>A c.(166-168)tgC>tgA p.C56* FST_ENST00000256759.3_Nonsense_Mutation_p.C56* NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 56 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity p.C56*(1) breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) AGGAGTGCTGCAGCACCGGCC 0.597000 OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 43 3.1745e-13 4.2485e-13 0.037714 1 0 GPR155 151556 broad.mit.edu 37 2 175300882 175300882 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:175300882C>T ENST00000392552.2 - 16 2813 c.2575G>A c.(2575-2577)Gag>Aag p.E859K GPR155_ENST00000295500.4_Missense_Mutation_p.E859K|GPR155_ENST00000392551.2_Missense_Mutation_p.E859K NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 859 intracellular signal transduction|transmembrane transport integral to membrane p.E859K(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 GATGAATGCTCAATTTCTTTA 0.403000 4 164 0 0 0.009096 0 0 MDGA2 161357 broad.mit.edu 37 14 47504503 47504503 + Silent SNP T T A rs146423621 by1000genomes TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:47504503T>A ENST00000426342.1 - 8 1382 c.636A>T c.(634-636)ccA>ccT p.P212P MDGA2_ENST00000439988.2_Silent_p.P441P|MDGA2_ENST00000399232.2_Silent_p.P510P|MDGA2_ENST00000357362.3_Silent_p.P212P NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 441 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.P212P(2)|p.P510P(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCAGATTGGGTGGAACTTGAA 0.373000 24 44 0 0 0.021523 0 0 TJP1 7082 broad.mit.edu 37 15 30010701 30010701 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr15:30010701C>A ENST00000346128.6 - 21 4119 c.3645G>T c.(3643-3645)gaG>gaT p.E1215D TJP1_ENST00000356107.6_Missense_Mutation_p.E1215D|TJP1_ENST00000545208.2_Missense_Mutation_p.E1135D|TJP1_ENST00000400011.2_Missense_Mutation_p.E1139D NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1215 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.E1215D(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CATGGAGAGGCTCAAAATGAC 0.522000 13 67 7.93312e-07 9.02317e-07 0.020292 1 0 BNC2 54796 broad.mit.edu 37 9 16436214 16436214 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:16436214G>T ENST00000380672.4 - 6 2035 c.1978C>A c.(1978-1980)Ccc>Acc p.P660T BNC2_ENST00000380666.2_Missense_Mutation_p.P660T|BNC2_ENST00000380667.2_Missense_Mutation_p.P593T|BNC2_ENST00000545497.1_Missense_Mutation_p.P565T NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding p.P660T(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CCATCATTGGGGTCATCATCT 0.468000 11 76 0.00010058 0.000108075 0.013537 1 0 RPAP2 79871 broad.mit.edu 37 1 92789591 92789591 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:92789591G>C ENST00000370343.3 + 8 1223 c.1114G>C c.(1114-1116)Gag>Cag p.E372Q RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 372 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity p.E372Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AGTTTTGAAGGAGACTTTGAT 0.403000 17 89 0 0 0.038395 0 0 ARID3C 138715 broad.mit.edu 37 9 34627853 34627853 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:34627853C>A ENST00000378909.2 - 1 251 c.159G>T c.(157-159)gaG>gaT p.E53D NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 53 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.E53D(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) cagcatcttcctcttcctcAG 0.682000 9 9 0.00621372 0.00650476 0.058154 1 0 ANLN 54443 broad.mit.edu 37 7 36483457 36483457 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:36483457G>A ENST00000265748.2 + 22 3285 c.3064G>A c.(3064-3066)Gat>Aat p.D1022N ANLN_ENST00000396068.2_Missense_Mutation_p.D985N NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 1022 Localization to the cleavage furrow.|PH. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding p.D1022N(1) breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TTATCCAGATGATGAGAAACG 0.408000 11 13 0 0 0.010729 0 0 OGT 8473 broad.mit.edu 37 X 70774416 70774416 + Silent SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:70774416C>G ENST00000373719.3 + 6 919 c.702C>G c.(700-702)gtC>gtG p.V234V OGT_ENST00000373701.3_Silent_p.V224V NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 234 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity p.V234V(1)|p.V224V(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TAGGAAATGTCTTGAAAGAGG 0.358000 3 69 0 0 0.009096 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974314 29974314 + RNA SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:29974314G>T ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA AGCGTCGCGCGGCCCCGGTTC 0.657000 9 11 0.000673444 0.000715034 0.008291 1 0 TLL2 7093 broad.mit.edu 37 10 98273371 98273371 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:98273371C>A ENST00000357947.3 - 1 297 c.72G>T c.(70-72)ggG>ggT p.G24G TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 24 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.G24G(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCCCGAGTCCCCCGGCGCCGC 0.726000 16 22 3.45872e-05 3.78007e-05 0.028581 1 0 CUL3 8452 broad.mit.edu 37 2 225376300 225376300 + Splice_Site SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:225376300C>T ENST00000264414.4 - 6 993 c.e6-1 CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.?(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GGCTTTCCATCTGCCatttaa 0.289000 17 31 0 0 0.028581 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072155 17072155 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr22:17072155C>T ENST00000359963.3 - 1 1545 c.1286G>A c.(1285-1287)aGa>aAa p.R429K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 429 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.R429K(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) CCCTTCCAATCTGCTTCCTTT 0.488000 40 79 0 0 0.042209 0 0 SCN3A 6328 broad.mit.edu 37 2 165997321 165997321 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:165997321C>T ENST00000360093.3 - 13 2350 c.1859G>A c.(1858-1860)cGa>cAa p.R620Q SCN3A_ENST00000283254.7_Missense_Mutation_p.R620Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R620Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 620 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R620Q(4) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ACTGTTGCGTCGCTCTCCATG 0.498000 18 50 0 0 0.043863 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656177 167656177 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:167656177C>T ENST00000357154.3 - 12 1343 c.1206G>A c.(1204-1206)gaG>gaA p.E402E SPOCK3_ENST00000504953.1_Silent_p.E399E|SPOCK3_ENST00000541637.1_Silent_p.E304E|SPOCK3_ENST00000511269.1_Silent_p.E399E|SPOCK3_ENST00000541354.1_Silent_p.E282E|SPOCK3_ENST00000535728.1_Silent_p.E270E|SPOCK3_ENST00000502330.1_Silent_p.E402E|SPOCK3_ENST00000534949.1_Silent_p.E306E|SPOCK3_ENST00000510741.1_Silent_p.E359E|SPOCK3_ENST00000421836.2_Silent_p.E351E|SPOCK3_ENST00000357545.4_Silent_p.E399E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.E304E|SPOCK3_ENST00000506886.1_Silent_p.E402E|SPOCK3_ENST00000511531.1_Silent_p.E402E NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 402 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.E399E(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) cttcatcatcctcatcatcag 0.353000 4 6 0 0 0.014758 0 0 ZBBX 79740 broad.mit.edu 37 3 167068302 167068302 + Splice_Site SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:167068302A>T ENST00000392766.2 - 9 774 c.432_splice c.e9-1 p.V145_splice ZBBX_ENST00000307529.5_Splice_Site_p.V145_splice|ZBBX_ENST00000455345.2_Splice_Site_p.V145_splice|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Splice_Site_p.V145_splice|ZBBX_ENST00000392764.1_Splice_Site_p.V116_splice NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 145 intracellular zinc ion binding p.V145E(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTCAAGGCATACCTAAAAAGa 0.299000 16 30 0 0 0.024245 0 0 PRSS36 146547 broad.mit.edu 37 16 31154786 31154786 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:31154786C>A ENST00000268281.4 - 8 1035 c.977G>T c.(976-978)gGg>gTg p.G326V PRSS36_ENST00000569305.1_Missense_Mutation_p.G326V|PRSS36_ENST00000418068.2_Missense_Mutation_p.G326V NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 326 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity p.G326V(1) kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CGGGGCCTTCCCGCACTCTGA 0.657000 56 114 1.19403e-26 1.87275e-26 0.048971 1 0 KIAA1755 85449 broad.mit.edu 37 20 36868046 36868046 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr20:36868046G>A ENST00000279024.4 - 4 1902 c.1631C>T c.(1630-1632)gCt>gTt p.A544V NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 544 p.A544V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GCCTGCAGAAGCTTCTGGCAA 0.602000 37 116 0 0 0.042209 0 0 PDE6B 5158 broad.mit.edu 37 4 647926 647926 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:647926C>A ENST00000255622.6 + 5 953 c.910C>A c.(910-912)Cgc>Agc p.R304S PDE6B_ENST00000429163.2_Missense_Mutation_p.R25S|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.R304S NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 304 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.R304S(1) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTCGGGCCCACGCACGCCTGA 0.642000 21 49 8.16277e-20 1.20025e-19 0.027894 1 0 EHBP1L1 254102 broad.mit.edu 37 11 65349621 65349621 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:65349621G>A ENST00000309295.4 + 9 1743 c.1478G>A c.(1477-1479)gGt>gAt p.G493D NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 493 p.G493D(1) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGCAACTTGGTGACCTCGAG 0.682000 7 25 0 0 0.010729 0 0 LHFPL1 340596 broad.mit.edu 37 X 111874652 111874652 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:111874652G>T ENST00000371968.3 - 4 898 c.659C>A c.(658-660)cCt>cAt p.P220H LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.P187H NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 220 integral to membrane p.P220H(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 CAAAGCTCAAGGTTTGAGGCA 0.463000 40 38 1.41504e-22 2.1297e-22 0.042209 1 0 MYF6 4618 broad.mit.edu 37 12 81101854 81101854 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:81101854G>A ENST00000228641.3 + 1 578 c.356G>A c.(355-357)cGa>cAa p.R119Q NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 119 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity p.R119Q(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CTGAAGCGGCGAACTGTGGCC 0.597000 36 101 0 0 0.039052 0 0 COL4A5 1287 broad.mit.edu 37 X 107814662 107814662 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:107814662G>T ENST00000328300.6 + 7 648 c.404G>T c.(403-405)gGc>gTc p.G135V COL4A5_ENST00000361603.2_Missense_Mutation_p.G135V NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 135 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.G135V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGATTTCCAGGCAGTCCCGGT 0.373000 Alport syndrome with Diffuse Leiomyomatosis 64 33 3.39796e-24 5.20167e-24 0.048971 1 0 C1orf216 127703 broad.mit.edu 37 1 36181806 36181806 + Silent SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:36181806G>C ENST00000270815.4 - 2 887 c.117C>G c.(115-117)gcC>gcG p.A39A C1orf216_ENST00000503824.1_5'UTR NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 39 p.A39A(1) kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TAGCATCCTTGGCACTTGCCA 0.577000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 113 0 0 0.024334 0 0 KIF6 221458 broad.mit.edu 37 6 39330242 39330242 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:39330242C>A ENST00000287152.7 - 17 2008 c.1914G>T c.(1912-1914)aaG>aaT p.K638N KIF6_ENST00000541946.1_Missense_Mutation_p.K89N|KIF6_ENST00000373215.3_Missense_Mutation_p.K621N|KIF6_ENST00000229913.5_Missense_Mutation_p.K89N|KIF6_ENST00000373213.4_Missense_Mutation_p.K477N|KIF6_ENST00000373216.3_Missense_Mutation_p.K638N|KIF6_ENST00000538893.1_Missense_Mutation_p.K582N|KIF6_ENST00000394362.1_Missense_Mutation_p.K89N NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 638 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.K638N(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GTGATCGCAGCTTCTCCTCCT 0.547000 OREG0017415 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 224 6.27289e-28 9.97858e-28 0.048971 1 0 BRINP2 57795 broad.mit.edu 37 1 177226496 177226496 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:177226496C>A ENST00000361539.4 + 4 957 c.645C>A c.(643-645)atC>atA p.I215I FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 215 extracellular region p.I215I(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGCACCATATCCAGATAGCCA 0.612000 33 21 1.56738e-10 1.96803e-10 0.019004 1 0 PLXNA4 91584 broad.mit.edu 37 7 131888169 131888169 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:131888169C>A ENST00000359827.3 - 11 3270 c.2308G>T c.(2308-2310)Gaa>Taa p.E770* PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.E770* Q9HCM2 PLXA4_HUMAN plexin A4 770 integral to membrane|intracellular|plasma membrane p.E770*(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCCATCCCTTCATAGGAATAC 0.522000 4 138 0.00909568 0.0094115 0.009096 1 0 TNR 7143 broad.mit.edu 37 1 175372653 175372653 + Missense_Mutation SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:175372653G>A ENST00000367674.1 - 4 1307 c.599C>T c.(598-600)tCg>tTg p.S200L TNR_ENST00000263525.2_Missense_Mutation_p.S200L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 200 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.S200L(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTAGGGCTCCGAGCAATTCTT 0.582000 38 310 0 0 0.036044 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618548 37618548 + Missense_Mutation SNP A A T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr21:37618548A>T ENST00000399151.3 + 19 4355 c.4270A>T c.(4270-4272)Att>Ttt p.I1424F NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1424 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane p.I1424F(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGAGAGTCTCATTAACTTGGG 0.612000 10 70 0 0 0.016723 0 0 MYH1 4619 broad.mit.edu 37 17 10403991 10403991 + Silent SNP G G A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:10403991G>A ENST00000226207.5 - 28 3911 c.3817C>T c.(3817-3819)Ctg>Ttg p.L1273L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1273 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.L1273L(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCATTGATCAGCCGCTGCTGC 0.483000 29 62 0 0 0.050027 0 0 SMARCA2 6595 broad.mit.edu 37 9 2101582 2101582 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:2101582G>C ENST00000382203.1 + 22 3300 c.3091G>C c.(3091-3093)Gaa>Caa p.E1031Q SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1031Q|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1031Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1031Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1031 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding p.E1031Q(1)|p.E1027Q(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATCCTTTGCTGAACACCTAGG 0.299000 5 28 0 0 0.029380 0 0 PARP14 54625 broad.mit.edu 37 3 122420301 122420301 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:122420301T>A ENST00000474629.2 + 6 3166 c.2900T>A c.(2899-2901)gTt>gAt p.V967D NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 967 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.V804D(1)|p.V967D(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAGAAGACTGTTGAGGCCTTT 0.488000 8 32 0 0 0.047766 0 0 SLITRK5 26050 broad.mit.edu 37 13 88330366 88330366 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr13:88330366A>G ENST00000325089.6 + 2 2942 c.2723A>G c.(2722-2724)gAc>gGc p.D908G SLITRK5_ENST00000400028.3_Missense_Mutation_p.D667G NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 908 integral to membrane p.D908G(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGGGCAGGGGACAGCAGGCTA 0.552000 40 251 0 0 0.030466 0 0 TMEM2 23670 broad.mit.edu 37 9 74313084 74313084 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:74313084C>A ENST00000377044.4 - 20 3953 c.3414G>T c.(3412-3414)agG>agT p.R1138S TMEM2_ENST00000396272.3_Missense_Mutation_p.R131S|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1075S NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1138 integral to membrane p.R1138S(1)|p.R1138R(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGTGGCCATGCCTGTGGCTTT 0.418000 56 94 1.64573e-32 2.69466e-32 0.048971 1 0 PCLO 27445 broad.mit.edu 37 7 82764745 82764745 + Silent SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:82764745C>T ENST00000423517.2 - 3 2458 c.2121G>A c.(2119-2121)gtG>gtA p.V707V PCLO_ENST00000333891.8_Silent_p.V707V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 653 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.V707V(2)|p.V653V(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGGTTGTTTCACTAGTGGTG 0.542000 15 78 0 0 0.043863 0 0 MYH11 4629 broad.mit.edu 37 16 15820896 15820896 + Missense_Mutation SNP C C T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr16:15820896C>T ENST00000338282.6 - 28 3773 c.3667G>A c.(3667-3669)Gac>Aac p.D1223N MYH11_ENST00000300036.5_Missense_Mutation_p.D1223N|MYH11_ENST00000396324.3_Missense_Mutation_p.D1230N|MYH11_ENST00000576790.1_Missense_Mutation_p.D1223N|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.D1230N NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1223 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.D1223N(1)|p.D1230N(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TTATTCTTGTCTAGGTTCGCC 0.597000 T CBFB AML 77 550 0 0 0.048971 0 0 PCDH7 5099 broad.mit.edu 37 4 31144129 31144129 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr4:31144129G>T ENST00000543491.1 + 3 3426 c.3426G>T c.(3424-3426)ggG>ggT p.G1142G O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding p.G1087G(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CCCTGACTGGGAAGTGCACTC 0.512000 22 99 1.55469e-16 2.1992e-16 0.018920 1 0 MYO1H 283446 broad.mit.edu 37 12 109841826 109841826 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:109841826G>T ENST00000310903.5 + 7 848 c.742G>T c.(742-744)Gac>Tac p.D248Y MYO1H_ENST00000431443.2_Missense_Mutation_p.D248Y|MYO1H_ENST00000542883.1_3'UTR B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity p.D248Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TGACAAGAATGACTGGAAAAC 0.418000 6 27 3.09899e-07 3.55191e-07 0.047766 1 0 NGFR 4804 broad.mit.edu 37 17 47583901 47583901 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:47583901C>A ENST00000172229.3 + 3 574 c.449C>A c.(448-450)cCc>cAc p.P150H NGFR_ENST00000504201.1_Missense_Mutation_p.P56H|RP5-1029K10.2_ENST00000514506.1_RNA NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 150 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm p.P150H(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GAGGAGTGCCCCGACGGCACG 0.701000 8 56 1.12685e-05 1.24679e-05 0.047766 1 0 LRP1B 53353 broad.mit.edu 37 2 141812830 141812830 + Splice_Site SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:141812830T>A ENST00000389484.3 - 10 2380 c.e10-2 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.?(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCTTCTGACTACAACAAATA 0.398000 TSP Lung(27;0.18) 6 21 0 0 0.021553 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256990 69256990 + Nonsense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:69256990C>A ENST00000439696.2 - 2 578 c.277G>T c.(277-279)Gaa>Taa p.E93* ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.E93*|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 93 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E93*(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGCCCCCTTCCGAGAAGGAG 0.667000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 38 6.50621e-10 8.05617e-10 0.054565 1 0 CTC1 80169 broad.mit.edu 37 17 8141519 8141519 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:8141519C>A ENST00000315684.8 - 4 484 c.477G>T c.(475-477)ctG>ctT p.L159L CTC1_ENST00000581671.1_5'UTR NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 159 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding p.L159L(1) NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AACGGGGGAACAGAAAAAGAT 0.532000 23 91 1.42536e-11 1.83612e-11 0.024334 1 0 GIMAP2 26157 broad.mit.edu 37 7 150389570 150389570 + Nonsense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr7:150389570G>T ENST00000223293.5 + 3 290 c.196G>T c.(196-198)Gga>Tga p.G66* NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 66 integral to membrane GTP binding p.G66*(1) kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAAAGTCAGGGAAGCTGGGG 0.468000 44 21 6.21074e-16 8.6486e-16 0.042209 1 0 ABCC8 6833 broad.mit.edu 37 11 17449426 17449426 + Missense_Mutation SNP G G A rs72559724 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr11:17449426G>A ENST00000302539.4 - 15 2229 c.2104C>T c.(2104-2106)Cgt>Tgt p.R702C ABCC8_ENST00000389817.3_Missense_Mutation_p.R702C NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 702 ABC transporter 1. 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 p.R702C(1) 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) CGGGGGATACGAATGGTGATG 0.532000 11 49 0 0 0.020292 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654774 161654774 + RNA SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:161654774C>A ENST00000426558.1 - 0 268 NR_002595.1 CATTCTTATTCCTTTGGCCCA 0.473000 10 46 1.33987e-11 1.73099e-11 0.008291 1 0 GAS2L3 283431 broad.mit.edu 37 12 101005791 101005791 + Missense_Mutation SNP G G C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:101005791G>C ENST00000537247.1 + 6 959 c.5G>C c.(4-6)aGa>aCa p.R2T GAS2L3_ENST00000266754.5_Missense_Mutation_p.R106T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R106T|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R106T Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 106 cell cycle arrest p.R106T(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 TTTCCAATGAGAAAAGTGCCC 0.348000 21 76 0 0 0.055883 0 0 TEX15 56154 broad.mit.edu 37 8 30704102 30704102 + Missense_Mutation SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:30704102T>A ENST00000256246.2 - 1 2506 c.2432A>T c.(2431-2433)aAt>aTt p.N811I NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 811 p.N811I(1) 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) ATCTTCCTTATTTATTTCCGG 0.368000 4 25 0 0 0.047766 0 0 AL132709.8 0 broad.mit.edu 37 14 101431171 101431171 + RNA SNP T T A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:101431171T>A ENST00000423708.3 + 0 736 GAATACATGTTTGAAACTCTG 0.353000 16 35 0 0 0.043863 0 0 TPO 7173 broad.mit.edu 37 2 1426848 1426848 + Silent SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr2:1426848C>A ENST00000345913.4 + 3 217 c.126C>A c.(124-126)gtC>gtA p.V42V TPO_ENST00000382201.3_Silent_p.V42V|TPO_ENST00000539820.1_Silent_p.V42V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.V42V|TPO_ENST00000382269.3_Silent_p.V42V|TPO_ENST00000346956.3_Silent_p.V42V|TPO_ENST00000337415.3_Silent_p.V42V|TPO_ENST00000329066.4_Silent_p.V42V|TPO_ENST00000382198.1_Silent_p.V42V NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 42 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.V42V(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCTCTAGCGTCTTGGAGGAAA 0.582000 27 73 7.11191e-15 9.72178e-15 0.054565 1 0 MTR 4548 broad.mit.edu 37 1 236969511 236969511 + Missense_Mutation SNP C C A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:236969511C>A ENST00000366577.5 + 3 711 c.317C>A c.(316-318)gCt>gAt p.A106D MTR_ENST00000418145.2_Missense_Mutation_p.A162D|MTR_ENST00000535889.1_Missense_Mutation_p.A106D NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 106 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.A106D(1) 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) ATTGCCCAAGCTGACTATGGC 0.413000 4 142 0.014758 0.0152352 0.014758 1 0 EMC9 51016 broad.mit.edu 37 14 24610337 24610337 + Missense_Mutation SNP C C G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr14:24610337C>G ENST00000419198.2 - 1 457 c.177G>C c.(175-177)atG>atC p.M59I EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Missense_Mutation_p.M59I ER membrane protein complex subunit 9 p.M59I(1) CGACCTCCAACATGACGGACA 0.652000 OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 168 0 0 0.048971 0 0 CDH7 1005 broad.mit.edu 37 18 63511297 63511297 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr18:63511297G>T ENST00000536984.2 + 7 1925 c.1231G>T c.(1231-1233)Gtg>Ttg p.V411L CDH7_ENST00000397968.2_Missense_Mutation_p.V411L|CDH7_ENST00000323011.3_Missense_Mutation_p.V411L Q9ULB5 CADH7_HUMAN cadherin 7, type 2 411 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V411L(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CAATAGCCCTGTGAGGTAAAA 0.423000 9 53 3.09899e-07 3.55191e-07 0.047766 1 0 HMCN1 83872 broad.mit.edu 37 1 186086738 186086738 + Missense_Mutation SNP A A G TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:186086738A>G ENST00000271588.4 + 77 12060 c.11831A>G c.(11830-11832)tAt>tGt p.Y3944C HMCN1_ENST00000367492.2_Missense_Mutation_p.Y3944C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3944 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding p.Y3944C(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGAGATGGCTATAGAATTCTG 0.433000 69 42 0 0 0.048971 0 0 ABI3BP 25890 broad.mit.edu 37 3 100498978 100498978 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr3:100498978G>T ENST00000471714.1 - 57 4320 c.4211C>A c.(4210-4212)cCa>cAa p.P1404Q ABI3BP_ENST00000284322.5_Missense_Mutation_p.P702Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P656Q Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 702 extracellular space p.P703Q(1)|p.P656Q(1)|p.P1404Q(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTACTTACCTGGCTTTTTAGT 0.458000 8 59 0.0381472 0.0390202 0.038147 1 0 VCAM1 7412 broad.mit.edu 37 1 101185437 101185437 + Silent SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:101185437G>T ENST00000294728.2 + 1 122 c.21G>T c.(19-21)gtG>gtT p.V7V VCAM1_ENST00000370115.1_Silent_p.V7V|VCAM1_ENST00000347652.2_Silent_p.V7V|VCAM1_ENST00000370119.4_Silent_p.V7V NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 7 heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.V7V(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGATGGTCGTGATCCTTGGAG 0.413000 15 43 1.55795e-14 2.12318e-14 0.062417 1 0 ZSWIM5 57643 broad.mit.edu 37 1 45508890 45508890 + Splice_Site DEL C C - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:45508890delC ENST00000359600.5 - 6 1815 c.e6+1 NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 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) GCTAGACTTACCAAGCCACAG 0.478 39 108 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 7 465 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228558786 228558786 + Frame_Shift_Del DEL C C - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr1:228558786delC ENST00000570156.2 + 105 23252 c.23178delC c.(23176-23178)ggfs p.G7726fs OBSCN_ENST00000422127.1_Frame_Shift_Del_p.G6769fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.G4403fs NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6769 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCTGCGGGGCCCACCCGACA 0.662 60 55 --- --- --- --- AC005754.7 0 broad.mit.edu 37 5 140480154 140480154 + RNA DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr5:140480154delG ENST00000607216.1 - 0 255 TACAAAGGTTGTGGGGCAAAA 0.542 17 33 --- --- --- --- FRK 2444 broad.mit.edu 37 6 116289825 116289827 + In_Frame_Del DEL TTC TTC - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:116289825_116289827delTTC ENST00000606080.1 - 3 988_990 c.542_544delGAA c.(541-546)atc>a p.RI181del FRK_ENST00000538210.1_In_Frame_Del_p.RI39del NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 181 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GTTGAAAAGATTCTTCTTCGCGT 0.409 22 148 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146276182 146276182 + Frame_Shift_Del DEL A A - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr6:146276182delA ENST00000367503.3 - 2 675 c.277delT c.(277-279)ccfs p.S93fs SHPRH_ENST00000367505.2_Frame_Shift_Del_p.S93fs|SHPRH_ENST00000275233.7_Frame_Shift_Del_p.S93fs|SHPRH_ENST00000438092.2_Frame_Shift_Del_p.S93fs NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 93 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GACAAAGGGGAAAAAATACCA 0.363 8 74 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 7 31 --- --- --- --- ISCA1 81689 broad.mit.edu 37 9 88881102 88881103 + Frame_Shift_Ins INS - - A TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr9:88881102_88881103insA ENST00000375991.4 - 4 315_316 c.245_246insT c.(244-246)gagfs p.E82fs ISCA1_ENST00000452279.2_Frame_Shift_Ins_p.E129fs|ISCA1_ENST00000311534.6_5'UTR NM_030940.3 NP_112202.2 Q9BUE6 ISCA1_HUMAN iron-sulfur cluster assembly 1 82 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(4)|pancreas(1) 8 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) TGAATACTCTGACTCCTTGGAG 0.376 16 102 --- --- --- --- PBLD 64081 broad.mit.edu 37 10 70048359 70048375 + Frame_Shift_Del DEL CCTGTGTTTTCAACTTG CCTGTGTTTTCAACTTG - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr10:70048359_70048375delCCTGTGTTTTCAACTTG ENST00000358769.2 - 8 758_774 c.556_572delCAAGTTGAAAACACAGG c.(556-573)gfs p.QVENTG186fs PBLD_ENST00000277795.4_3'UTR|PBLD_ENST00000432941.1_Frame_Shift_Del_p.QVENTG186fs|PBLD_ENST00000336578.1_Frame_Shift_Del_p.QVENTG153fs|PBLD_ENST00000309049.4_Frame_Shift_Del_p.QVENTG186fs|PBLD_ENST00000495025.1_5'UTR NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 186 biosynthetic process isomerase activity p.G191V(1) endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 TTTCACCTTCCCTGTGTTTTCAACTTGCAGCAGATTC 0.461 15 152 --- --- --- --- RPH3A 22895 broad.mit.edu 37 12 113303262 113303262 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr12:113303262delG ENST00000389385.4 + 6 771 c.274delG c.(274-276)gafs p.G92fs RPH3A_ENST00000420983.2_Frame_Shift_Del_p.G92fs|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.G88fs|RPH3A_ENST00000548866.1_Frame_Shift_Del_p.G43fs|RPH3A_ENST00000447659.2_Frame_Shift_Del_p.G43fs|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.G92fs|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.G92fs NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 92 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GAACGTGGCTGGAGATGGGGT 0.532 70 167 --- --- --- --- KRTAP1-1 81851 broad.mit.edu 37 17 39197262 39197262 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:39197262delG ENST00000306271.4 - 1 451 c.388delC c.(388-390)tgfs p.L130fs NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 130 extracellular region|keratin filament NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGGGGGGCAGGCAGGTACCC 0.667 8 74 --- --- --- --- RUNDC1 146923 broad.mit.edu 37 17 41143406 41143406 + Frame_Shift_Del DEL G G - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr17:41143406delG ENST00000361677.1 + 5 1527 c.1515delG c.(1513-1515)acfs p.T505fs NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 505 RUN. breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TTCCTGTTACGGGAGGCACTG 0.542 72 91 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 3 3 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10080331 10080332 + Frame_Shift_Ins INS - - T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:10080331_10080332insT ENST00000264828.3 - 56 4102_4103 c.4017_4018insA c.(4015-4020)ccggagfs p.E1340fs NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1340 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCCGTCCTCCCTGGGGGCCCAT 0.673 12 36 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 30935349 30935350 + Frame_Shift_Ins INS - - T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chr19:30935349_30935350insT ENST00000355537.3 + 2 1027_1028 c.880_881insT c.(880-882)catfs p.H294fs NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 294 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) CCGCCACATCCGCATCTTGCAC 0.644 68 183 --- --- --- --- FAM58A 92002 broad.mit.edu 37 X 152860006 152860006 + Splice_Site DEL T T - TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be717b5-5b65-4631-a175-1f4c063d447e 5d48c4d0-e1bd-4a65-9ecf-b6bad02196d7 g.chrX:152860006delT ENST00000406277.2 - 5 524 c.423_splice c.e5+1 p.K141_splice FAM58A_ENST00000370175.4_5'UTR NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A 143 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTATGTACCTTGTGTGGATG 0.537 76 55 --- --- --- ---