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 LYSMD3 116068 broad.mit.edu 37 5 89815177 89815177 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:89815177C>A ENST00000315948.6 - 3 524 c.380G>T c.(379-381)aGa>aTa p.R127I LYSMD3_ENST00000509384.1_Missense_Mutation_p.K107N|LYSMD3_ENST00000500869.2_Intron NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 127 cell wall macromolecule catabolic process integral to membrane breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) TGAAGTCTGTCTTCCTTTTGG 0.393000 32 89 9.65021e-13 1.37919e-12 1 1 0 NBPF9 400818 broad.mit.edu 37 1 144828562 144828562 + Missense_Mutation SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:144828562A>T ENST00000338347.4 + 14 1608 c.1608A>T c.(1606-1608)gaA>gaT p.E536D NBPF9_ENST00000281815.8_Missense_Mutation_p.E134D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGCTGATGGAAGTGGAAGAGC 0.468000 86 368 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113513880 113513880 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:113513880C>A ENST00000541405.1 - 4 1096 c.573G>T c.(571-573)aaG>aaT p.K191N CKAP2L_ENST00000302450.6_Missense_Mutation_p.K356N Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 356 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTTGGCTGGACTTCTGATCTT 0.423000 76 165 1.37693e-34 2.49195e-34 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109381702 109381702 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:109381702G>T ENST00000283195.6 + 20 4833 c.4707G>T c.(4705-4707)ccG>ccT p.P1569P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1569 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GTCAGAATCCGGATAAACCAA 0.438000 66 208 3.86002e-21 6.49185e-21 1 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102548483 102548483 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:102548483G>C ENST00000334701.7 - 11 2701 c.2420C>G c.(2419-2421)gCt>gGt p.A807G HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A685G NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 685 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GATCCTGTTAGCATGTGTCTG 0.413000 22 65 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606469 55606469 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:55606469C>A ENST00000378396.1 + 1 242 c.242C>A c.(241-243)cCc>cAc p.P81H NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) ATCATTGCTCCCATGATGCTG 0.388000 98 271 3.17147e-52 5.93315e-52 1 1 0 NOC2L 26155 broad.mit.edu 37 1 881035 881035 + Splice_Site SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:881035T>A ENST00000327044.6 - 17 1967 c.e17-2 NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GTCTTCCAGCTGGAAGGCCAA 0.587000 17 74 0 0 1 0 0 MRPS31 10240 broad.mit.edu 37 13 41341004 41341004 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr13:41341004C>A ENST00000323563.6 - 2 354 c.318G>T c.(316-318)atG>atT p.M106I NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 106 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) ATTCAACTTTCATGCCCTTAA 0.413000 28 110 4.87955e-14 7.12672e-14 1 1 0 FOLR3 2352 broad.mit.edu 37 11 71850846 71850846 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:71850846G>T ENST00000445078.2 + 5 900 c.829G>T c.(829-831)Gcc>Tcc p.A277S FOLR3_ENST00000456237.1_Missense_Mutation_p.A279S|FOLR3_ENST00000442948.2_Missense_Mutation_p.A236S P41439 FOLR3_HUMAN folate receptor 3 (gamma) 235 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) GAATGCTGGGGCCCCGTCTCG 0.537000 10 38 1.76689e-08 2.10887e-08 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25420075 25420075 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:25420075G>T ENST00000441592.2 + 0 179 SNORD115-3_ENST00000363100.1_RNA CCCTGGGTTGGGTCAATGATG 0.512000 100 368 6.23493e-48 1.15991e-47 1 1 0 ZNF248 57209 broad.mit.edu 37 10 38121333 38121333 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:38121333C>A ENST00000395867.3 - 6 1500 c.950G>T c.(949-951)gGa>gTa p.G317V ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G317V|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TGTGTAAGCTCCCTGATGGAT 0.383000 13 138 4.93089e-13 7.10817e-13 1 1 0 CSF2RA 1438 broad.mit.edu 37 X 1428322 1428322 + Nonsense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:1428322G>T ENST00000381524.3 + 13 1339 c.1153G>T c.(1153-1155)Gaa>Taa p.E385* CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.E252*|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.E385*|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G325V|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.E385*|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.E419*|CSF2RA_ENST00000355805.2_3'UTR P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 385 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CACCCCAGAGGAAGGGAAAGG 0.542000 23 73 2.89027e-11 3.8966e-11 1 1 0 VCAN 1462 broad.mit.edu 37 5 82817667 82817667 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:82817667G>T ENST00000265077.3 + 7 4107 c.3542G>T c.(3541-3543)gGc>gTc p.G1181V VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1181V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1133V NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1181 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATTGATTTAGGCTCAGGATTA 0.383000 59 177 3.56336e-21 6.02335e-21 1 1 0 SAMSN1 64092 broad.mit.edu 37 21 15872969 15872969 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr21:15872969T>A ENST00000285670.2 - 7 1027 c.853A>T c.(853-855)Att>Ttt p.I285F SAMSN1_ENST00000400566.1_Missense_Mutation_p.I217F|SAMSN1_ENST00000400564.1_Missense_Mutation_p.I49F NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 217 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCCACATAAATGAATTTGAAG 0.408000 58 139 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48270407 48270407 + Splice_Site SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:48270407C>A ENST00000225964.5 - 26 1887 c.1767_splice c.e26-1 p.G590_splice NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 590 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCCGGGCTCTCCCTGTGGAGA 0.592000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 7 26 0.27861 0.280294 1 1 0 UGT1A8 54576 broad.mit.edu 37 2 234527015 234527015 + Missense_Mutation SNP A A T rs139633511 TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:234527015A>T ENST00000373450.4 + 1 725 c.662A>T c.(661-663)cAg>cTg p.Q221L NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTATTTTGCCAGTATTTTTCC 0.423000 147 414 0 0 1 0 0 MIR296 407022 broad.mit.edu 37 20 57392727 57392727 + RNA SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:57392727G>A ENST00000385215.1 - 0 22 NR_029844.1 CAGGATTGAGGGGGGGCCCTC 0.587000 13 28 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92909071 92909071 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:92909071C>A ENST00000532405.1 + 6 719 c.493C>A c.(493-495)Cat>Aat p.H165N SLC24A4_ENST00000393265.2_Missense_Mutation_p.H101N|SLC24A4_ENST00000351924.5_Missense_Mutation_p.H148N|SLC24A4_ENST00000531433.1_Missense_Mutation_p.H165N|SLC24A4_ENST00000298877.1_Missense_Mutation_p.H148N Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 165 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GTTCATCACCCATGGGGACGT 0.587000 18 55 1.33834e-09 1.67544e-09 1 1 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023766 18023766 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:18023766G>T ENST00000361221.3 + 29 3890 c.3731G>T c.(3730-3732)gGg>gTg p.G1244V ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1205V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1205V|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G1017V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G947V NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1244 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ATCTCCGGCGGGCAGGGCTAC 0.687000 30 59 1.62565e-12 2.30358e-12 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228464987 228464987 + Nonsense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:228464987C>T ENST00000570156.2 + 28 7926 c.7852C>T c.(7852-7854)Cag>Tag p.Q2618* OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Q1090*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q2243*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q2243* NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1612 Ig-like 25. 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) CCATGATGCCCAGAGCTCTGC 0.637000 5 28 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64519430 64519430 + Silent SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:64519430G>C ENST00000164139.3 - 14 2132 c.1734C>G c.(1732-1734)ctC>ctG p.L578L PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Silent_p.L490L NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 578 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GGCAGTTGAGGAGCTGTCGTT 0.512000 24 74 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18646679 18646679 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:18646679G>A ENST00000379989.3 + 19 2970 c.2685G>A c.(2683-2685)ccG>ccA p.P895P CDKL5_ENST00000379996.3_Silent_p.P895P NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 895 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) AACCCGCACCGAAGGGCAGGC 0.582000 7 100 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 5002460 5002460 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:5002460T>A ENST00000380051.2 - 2 187 c.143A>T c.(142-144)gAa>gTa p.E48V RPP40_ENST00000464646.1_5'UTR|RPP40_ENST00000319533.5_Missense_Mutation_p.E48V NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 48 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) TATCCCACATTCAGGAATGAG 0.358000 30 45 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3649189 3649189 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:3649189C>A ENST00000263087.4 - 18 2286 c.2188G>T c.(2188-2190)Gat>Tat p.D730Y NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 730 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACATCCACATCCAGCGTGAAG 0.607000 30 113 3.57733e-08 4.22429e-08 1 1 0 PRKG2 5593 broad.mit.edu 37 4 82125882 82125882 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:82125882C>A ENST00000395578.1 - 2 436 c.320G>T c.(319-321)cGg>cTg p.R107L PRKG2_ENST00000418486.2_Missense_Mutation_p.R107L|PRKG2_ENST00000264399.1_Missense_Mutation_p.R107L Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 107 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AGAGGTCTTCCGGTGGACCTC 0.562000 71 215 7.65386e-43 1.40814e-42 1 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95614126 95614126 + Splice_Site SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:95614126G>T ENST00000324972.6 + 8 824 c.e8-1 DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000359388.4_Splice_Site|DYNC1I1_ENST00000537881.1_Splice_Site|DYNC1I1_ENST00000457059.1_Splice_Site NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AATAAATAAAGCCCCTCCAAG 0.358000 34 74 6.00712e-18 9.57116e-18 1 1 0 CCDC34 91057 broad.mit.edu 37 11 27384611 27384611 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:27384611C>A ENST00000317945.6 - 1 170 c.131G>T c.(130-132)gGg>gTg p.G44V CCDC34_ENST00000328697.6_Missense_Mutation_p.G44V NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 44 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 CACCTCCAGCCCCTGCCCACG 0.652000 18 53 1.02788e-11 1.40281e-11 1 1 0 FAM179A 165186 broad.mit.edu 37 2 29259465 29259465 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:29259465C>A ENST00000379558.4 + 18 2828 c.2477C>A c.(2476-2478)gCg>gAg p.A826E FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A771E NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 826 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AACCAGTGGGCGCTGGAGTCC 0.517000 18 81 8.00594e-06 8.79861e-06 1 1 0 STRIP2 57464 broad.mit.edu 37 7 129096290 129096290 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:129096290G>T ENST00000249344.2 + 9 885 c.845G>T c.(844-846)gGt>gTt p.G282V STRIP2_ENST00000435494.2_Missense_Mutation_p.G282V NM_020704.2 NP_065755.1 striatin interacting protein 2 TTTACCCTCGGTGGATTTGAG 0.507000 24 75 3.01185e-09 3.74233e-09 1 1 0 SYT13 57586 broad.mit.edu 37 11 45275887 45275887 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:45275887G>T ENST00000020926.3 - 3 589 c.478C>A c.(478-480)Ccc>Acc p.P160T CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 160 transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 TGGAGTTTGGGGGCCTGGTTC 0.522000 15 58 0.000219431 0.000230507 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25448407 25448407 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:25448407G>T ENST00000424208.1 + 0 2163 SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TTGTCCTGAAGAGAGGTGATG 0.512000 82 298 2.56433e-40 4.69187e-40 1 1 0 MUC16 94025 broad.mit.edu 37 19 9063559 9063559 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:9063559G>A ENST00000397910.4 - 3 24090 c.23887C>T c.(23887-23889)Ccc>Tcc p.P7963S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7965 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCAGAAGGGGAGGGCTCATC 0.453000 19 30 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110864 55110864 + Missense_Mutation SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:55110864A>T ENST00000314721.2 + 1 238 c.188A>T c.(187-189)tAc>tTc p.Y63F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TTCCTTGCCTACTTGTCACTT 0.433000 60 204 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83433159 83433159 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:83433159G>C ENST00000296591.5 - 5 787 c.369C>G c.(367-369)tgC>tgG p.C123W EDIL3_ENST00000380138.3_Missense_Mutation_p.C113W NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 123 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCTCAACTTCGCATTCATTTA 0.333000 26 99 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899013 233899013 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:233899013C>T ENST00000233840.3 + 2 389 c.389C>T c.(388-390)aCt>aTt p.T130I NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 130 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GTCACCAGCACTGACCACGGG 0.637000 12 45 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185150 56185150 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:56185150G>T ENST00000312253.1 - 1 558 c.559C>A c.(559-561)Ctg>Atg p.L187M NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GAGCAGGACAGAGCTAAGAAG 0.448000 27 81 7.41945e-09 8.98428e-09 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43846479 43846479 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:43846479A>G ENST00000389420.3 - 13 1779 c.1780T>C c.(1780-1782)Tac>Cac p.Y594H ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y594H NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 594 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCCACACAGTAATTTCCTCCG 0.383000 11 26 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275893 152275893 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:152275893G>A ENST00000368799.1 - 3 11504 c.11469C>T c.(11467-11469)tcC>tcT p.S3823S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3823 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCCTGGAGCCGTCTC 0.577000 Ichthyosis 155 643 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15192621 15192621 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:15192621C>A ENST00000355694.2 - 9 933 c.699G>T c.(697-699)ggG>ggT p.G233G TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000297615.5_Silent_p.G230G|TTC39B_ENST00000507993.1_Silent_p.G134G|TTC39B_ENST00000512701.1_Silent_p.G299G|TTC39B_ENST00000380850.4_Silent_p.G299G|TTC39B_ENST00000507285.1_Silent_p.G134G NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 233 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 GCTTGACACCCCCTTCAAACT 0.403000 26 133 5.77227e-19 9.42238e-19 1 1 0 SLC29A4 222962 broad.mit.edu 37 7 5340114 5340114 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:5340114G>A ENST00000396872.2 + 10 1432 c.1271G>A c.(1270-1272)cGt>cAt p.R424H SLC29A4_ENST00000297195.4_Missense_Mutation_p.R424H|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R410H NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 424 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TCCTGCCTGCGTGTGGTCTTC 0.692000 55 136 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558447 129558447 + Nonsense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:129558447G>C ENST00000422113.2 - 9 3599 c.3273C>G c.(3271-3273)taC>taG p.Y1091* TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.Y629* NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1091 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACCTCTCCATGTAGTTGTGCA 0.502000 33 118 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072573 9072573 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:9072573G>T ENST00000397910.4 - 3 15076 c.14873C>A c.(14872-14874)aCc>aAc p.T4958N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4960 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACAGCCTGGTGTTGGTTTC 0.493000 35 70 9.04072e-19 1.45438e-18 1 1 0 BSCL2 26580 broad.mit.edu 37 11 62457842 62457842 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:62457842G>A ENST00000433053.1 - 12 1942 c.1386C>T c.(1384-1386)tcC>tcT p.S462S BSCL2_ENST00000360796.5_Silent_p.S462S|BSCL2_ENST00000407022.3_Silent_p.S398S|BSCL2_ENST00000421906.1_Silent_p.S398S|BSCL2_ENST00000405837.1_Silent_p.S464S|BSCL2_ENST00000278893.7_3'UTR|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Silent_p.S398S Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 398 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 CTTTTCTTCAGGAACTAGAGC 0.547000 25 80 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610061 38610061 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:38610061G>T ENST00000222345.6 + 9 2916 c.2407G>T c.(2407-2409)Gct>Tct p.A803S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 803 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGTGATTAACGCTGAGAACGC 0.572000 65 81 1.84395e-34 3.31911e-34 1 1 0 SSPO 23145 broad.mit.edu 37 7 149523302 149523302 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:149523302G>T ENST00000378016.2 + 0 14388 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGGTCCTGGGGTGGCACCAT 0.657000 11 45 4.3838e-07 4.94849e-07 1 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140772414 140772414 + Nonsense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140772414G>T ENST00000398604.2 + 1 34 c.34G>T c.(34-36)Gag>Tag p.E12* PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACGCGGCGAGCTGATCCT 0.542000 6 24 8.12818e-05 8.56546e-05 1 1 0 BIN1 274 broad.mit.edu 37 2 127826500 127826500 + Splice_Site SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:127826500C>A ENST00000316724.5 - 6 930 c.519_splice c.e6+1 p.K173_splice BIN1_ENST00000259238.4_Splice_Site_p.K173_splice|BIN1_ENST00000351659.3_Splice_Site_p.K173_splice|BIN1_ENST00000357970.3_Splice_Site_p.K173_splice|BIN1_ENST00000352848.3_Splice_Site_p.K173_splice|BIN1_ENST00000393041.3_Splice_Site_p.K173_splice|BIN1_ENST00000376113.2_Splice_Site_p.K173_splice|BIN1_ENST00000393040.3_Splice_Site_p.K173_splice|BIN1_ENST00000346226.3_Splice_Site_p.K173_splice|BIN1_ENST00000348750.4_Splice_Site_p.K173_splice|BIN1_ENST00000409400.1_Splice_Site_p.K173_splice NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 173 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CAGCCCTTACCTTGGCAATTT 0.637000 14 65 3.27435e-08 3.88028e-08 1 1 0 BRDT 676 broad.mit.edu 37 1 92459779 92459779 + Missense_Mutation SNP A A C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:92459779A>C ENST00000370389.2 + 15 2960 c.2036A>C c.(2035-2037)aAc>aCc p.N679T BRDT_ENST00000402388.1_Missense_Mutation_p.N752T|BRDT_ENST00000362005.3_Missense_Mutation_p.N752T|BRDT_ENST00000394530.3_Missense_Mutation_p.N706T|BRDT_ENST00000399546.2_Missense_Mutation_p.N752T NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGTGAAAAACATTTCACCT 0.328000 20 73 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 33935571 33935571 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr18:33935571C>A ENST00000257209.4 + 2 357 c.235C>A c.(235-237)Cag>Aag p.Q79K FHOD3_ENST00000445677.1_Missense_Mutation_p.Q79K|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q79K|FHOD3_ENST00000359247.4_Missense_Mutation_p.Q79K NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 79 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CCTGGCAGAGCAGCGGGATGA 0.562000 14 49 2.62699e-14 3.9053e-14 1 1 0 DOCK1 1793 broad.mit.edu 37 10 128840908 128840908 + Missense_Mutation SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:128840908A>T ENST00000280333.6 + 20 2076 c.1967A>T c.(1966-1968)gAt>gTt p.D656V NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 656 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GACACGTTGGATGCCCTCTTC 0.473000 43 135 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687787 61687787 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:61687787T>A ENST00000577390.1 - 12 3079 c.2125A>T c.(2125-2127)Agg>Tgg p.R709W CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Splice_Site_p.R709_splice NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 709 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGCCCTTGCCTTGGCATAAAC 0.423000 52 145 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 69011847 69011847 + Missense_Mutation SNP G G A rs148459295 byFrequency TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:69011847G>A ENST00000543950.1 + 11 1606 c.1252G>A c.(1252-1254)Gga>Aga p.G418R CORO2B_ENST00000261861.5_Missense_Mutation_p.G418R|CORO2B_ENST00000540068.1_Missense_Mutation_p.G418R|CORO2B_ENST00000566799.1_Missense_Mutation_p.G423R NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 423 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGTGGTCAACGGAATAGATTT 0.403000 33 87 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77765851 77765851 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:77765851G>A ENST00000261534.4 - 7 1072 c.870C>T c.(868-870)ccC>ccT p.P290P NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 290 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) AGAGAGCCAGGGGCAGCACTA 0.522000 17 84 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26806273 26806273 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:26806273T>C ENST00000541819.2 - 9 1156 c.1054A>G c.(1054-1056)Acc>Gcc p.T352A GABRB3_ENST00000299267.4_Missense_Mutation_p.T296A|GABRB3_ENST00000311550.5_Missense_Mutation_p.T296A|GABRB3_ENST00000400188.3_Missense_Mutation_p.T225A|GABRB3_ENST00000545868.1_Missense_Mutation_p.T211A P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 296 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTGGGCAAGGTCTCCCGAAGG 0.473000 10 113 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100364703 100364703 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:100364703G>T ENST00000542585.1 + 0 4831 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCACTTCATGGGCACCTGCA 0.607000 27 79 6.12954e-19 9.95676e-19 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63175026 63175026 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:63175026C>A ENST00000322893.7 - 11 2435 c.2167G>T c.(2167-2169)Ggc>Tgc p.G723C KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 723 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGTGTTGAGCCCTGATTCCGC 0.572000 31 96 4.74835e-14 6.96565e-14 1 1 0 RBP3 5949 broad.mit.edu 37 10 48388549 48388549 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:48388549C>T ENST00000224600.4 - 1 2442 c.2329G>A c.(2329-2331)Gcg>Acg p.A777T NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 777 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ATCACCAGCGCAGCCGTGTCC 0.632000 9 33 0 0 1 0 0 VTN 7448 broad.mit.edu 37 17 26694405 26694405 + Silent SNP A A C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:26694405A>C ENST00000226218.4 - 8 2040 c.1422T>G c.(1420-1422)gcT>gcG p.A474A TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_Intron|SEBOX_ENST00000438614.1_Intron|SARM1_ENST00000379061.4_Intron NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin 474 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) GATGGCCAGGAGCTGGGCAGC 0.617000 14 40 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52825828 52825828 + Silent SNP G G A rs141787279 TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:52825828G>A ENST00000273283.2 + 22 2661 c.2637G>A c.(2635-2637)ccG>ccA p.P879P ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.P737P|ITIH1_ENST00000537050.1_Silent_p.P591P|ITIH1_ENST00000405128.3_Silent_p.P245P NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 879 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GCAAGGACCCGTGGCATGGGG 0.567000 13 47 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113241077 113241077 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:113241077G>C ENST00000369644.1 + 17 3346 c.2317G>C c.(2317-2319)Gtc>Ctc p.V773L MOV10_ENST00000369645.1_Missense_Mutation_p.V829L|MOV10_ENST00000413052.2_Missense_Mutation_p.V829L|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.V829L Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 829 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) AAGTGTGGGCGTCATCTCCCC 0.602000 14 42 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861839 14861839 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:14861839G>A ENST00000285046.5 + 1 1371 c.1261G>A c.(1261-1263)Gcc>Acc p.A421T FGD5_ENST00000543601.1_Missense_Mutation_p.A180T NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 421 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GGAGGAGGAGGCCTTGGATGA 0.687000 15 36 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067808 190067808 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:190067808G>T ENST00000367462.3 - 8 1872 c.1641C>A c.(1639-1641)gtC>gtA p.V547V FAM5C_ENST00000534846.1_Silent_p.V445V|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 547 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAATCATATGGACCAGACTTG 0.463000 40 134 3.33393e-15 5.06941e-15 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34076810 34076810 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:34076810G>C ENST00000373381.4 - 41 6350 c.6174C>G c.(6172-6174)aaC>aaG p.N2058K CSMD2_ENST00000373388.2_Missense_Mutation_p.N157K|CSMD2_ENST00000373380.1_Missense_Mutation_p.N931K|CSMD2_ENST00000373377.1_Missense_Mutation_p.N157K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2018 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTAGTCGTGGTTGGGCTCGG 0.562000 8 37 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924349 188924349 + Nonsense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:188924349G>T ENST00000326866.4 + 4 796 c.388G>T c.(388-390)Gag>Tag p.E130* ZFP42_ENST00000509524.1_Nonsense_Mutation_p.E130* NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 130 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGTAAAGAAAGAGCTTCCACA 0.413000 41 144 1.22674e-20 2.0223e-20 1 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74507362 74507362 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:74507362C>G ENST00000354431.4 - 7 1444 c.1253G>C c.(1252-1254)cGa>cCa p.R418P LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R418P NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 418 p.R418Q(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ACTAAATGTTCGGAGTTTCAT 0.363000 29 104 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4850594 4850594 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:4850594C>A ENST00000379333.1 - 12 1600 c.1208G>T c.(1207-1209)cGg>cTg p.R403L SLC23A2_ENST00000424750.2_Missense_Mutation_p.R289L|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R403L NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 403 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.R403L(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ACAGGACAGCCGTGCACAGGC 0.577000 24 93 9.57634e-11 1.26545e-10 1 1 0 MRPS15 64960 broad.mit.edu 37 1 36926906 36926906 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:36926906C>A ENST00000373116.5 - 4 420 c.259G>T c.(259-261)Gat>Tat p.D87Y NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 87 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTCACGACATCATCAACCCTG 0.478000 15 53 4.7546e-09 5.84237e-09 1 1 0 LRP1B 53353 broad.mit.edu 37 2 142012133 142012133 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:142012133C>T ENST00000389484.3 - 4 1392 c.421G>A c.(421-423)Gag>Aag p.E141K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 141 EGF-like 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) AATCCATCCTCACAGTAACAT 0.323000 TSP Lung(27;0.18) 12 50 0 0 1 0 0 ENKUR 219670 broad.mit.edu 37 10 25284702 25284702 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:25284702T>C ENST00000331161.4 - 3 539 c.320A>G c.(319-321)aAt>aGt p.N107S ENKUR_ENST00000376363.1_Missense_Mutation_p.N107S NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 107 cilium|flagellum calmodulin binding|SH3 domain binding endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 TGCATTTGTATTTATAAAATT 0.388000 36 112 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233464509 233464509 + Silent SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:233464509G>C ENST00000366624.3 + 1 996 c.735G>C c.(733-735)gcG>gcC p.A245A MLK4_ENST00000366623.3_Silent_p.A245A NM_032435.2 NP_115811.2 TGCAGATAGCGCGGGGCATGC 0.721000 5 11 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88534106 88534106 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:88534106C>T ENST00000399271.1 + 4 888 c.768C>T c.(766-768)gaC>gaT p.D256D RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.D256D NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 256 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGGATGAAGACGAGGGTTCTG 0.507000 22 51 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113314023 113314023 + Splice_Site SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr8:113314023T>C ENST00000297405.5 - 53 8683 c.8440_splice c.e53+1 p.L2813_splice CSMD3_ENST00000343508.3_Splice_Site_p.L2773_splice|CSMD3_ENST00000352409.3_Splice_Site_p.L2743_splice|CSMD3_ENST00000455883.2_Splice_Site_p.L2644_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2813 Sushi 17. integral to membrane|plasma membrane 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 AATCTGTACCTAGGCATCTGG 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 50 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087064 47087064 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:47087064G>T ENST00000374312.1 + 3 700 c.281G>T c.(280-282)tGc>tTc p.C94F NPY4R_ENST00000395716.1_Missense_Mutation_p.C94F NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 p.C94Y(1) TGCCTCCTCTGCCAGCCGCTG 0.562000 31 139 2.85442e-18 4.56981e-18 1 1 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011390 46011390 + Missense_Mutation SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr21:46011390A>T ENST00000400368.1 - 1 996 c.976T>A c.(976-978)Tct>Act p.S326T TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 326 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GAGGAGGCAGAGGCACCACAG 0.692000 40 76 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150282 34150282 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:34150282C>A ENST00000346193.3 - 1 165 c.114G>T c.(112-114)ctG>ctT p.L38L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 38 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GTGGGAACCTCAGGCGCCTGT 0.592000 34 53 1.56442e-22 2.71329e-22 1 1 0 OR52E6 390078 broad.mit.edu 37 11 5862768 5862768 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:5862768C>A ENST00000329322.5 - 1 359 c.360G>T c.(358-360)atG>atT p.M120I TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.M124I NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTCAAAGGCCATGGCCACCA 0.453000 88 216 3.83285e-27 6.78905e-27 1 1 0 LARGE 9215 broad.mit.edu 37 22 33670448 33670448 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr22:33670448C>G ENST00000354992.2 - 16 2807 c.2236G>C c.(2236-2238)Gcc>Ccc p.A746P LARGE_ENST00000437602.2_Missense_Mutation_p.A697P|LARGE_ENST00000337431.2_Missense_Mutation_p.A694P|LARGE_ENST00000452586.2_Missense_Mutation_p.A545P|LARGE_ENST00000402320.1_Missense_Mutation_p.A694P|LARGE_ENST00000397394.2_Missense_Mutation_p.A746P NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 746 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TATTTCAGGGCAGCAAAGCCG 0.542000 OREG0026497 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 132 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20403296 20403296 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:20403296G>T ENST00000222573.3 + 2 848 c.164G>T c.(163-165)tGt>tTt p.C55F ITGB8_ENST00000537992.1_5'UTR NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 55 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCAGCATCCTGTGCCAGGTGC 0.393000 10 17 0.00136819 0.00141055 1 1 0 CST11 140880 broad.mit.edu 37 20 23433336 23433336 + Missense_Mutation SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:23433336A>T ENST00000377009.3 - 1 146 c.113T>A c.(112-114)aTg>aAg p.M38K CST11_ENST00000377007.3_Missense_Mutation_p.M38K NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 38 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) TTCTACTGCCATCACTTCATG 0.498000 44 153 0 0 1 0 0 AP4M1 9179 broad.mit.edu 37 7 99700561 99700561 + Translation_Start_Site SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:99700561A>T ENST00000422582.1 + 0 515 AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000359593.4_Missense_Mutation_p.Y110F|AP4M1_ENST00000429084.1_Missense_Mutation_p.Y117F|AP4M1_ENST00000421755.1_Missense_Mutation_p.Y110F O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCTCTGGTATACGAACTCCTG 0.547000 21 49 0 0 1 0 0 HOPX 84525 broad.mit.edu 37 4 57514943 57514943 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:57514943C>A ENST00000337881.7 - 3 821 c.165G>T c.(163-165)ctG>ctT p.L55L HOPX_ENST00000553379.2_Silent_p.L55L|HOPX_ENST00000503639.3_Silent_p.L55L|HOPX_ENST00000420433.1_Silent_p.L73L|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000555760.2_Silent_p.L55L|HOPX_ENST00000381255.3_Silent_p.L55L|HOPX_ENST00000556614.2_Silent_p.L55L|HOPX_ENST00000508121.1_Silent_p.L73L|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000317745.7_Silent_p.L55L|HOPX_ENST00000556376.2_Silent_p.L55L NM_139212.3 NP_631958.1 Q9BPY8 HOP_HUMAN HOP homeobox 55 negative regulation of cell differentiation|trophectodermal cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(5)|skin(1) 8 Glioma(25;0.08)|all_neural(26;0.101) GCCACTTTGCCAGGCGCTGCT 0.478000 26 66 7.38237e-10 9.34726e-10 1 1 0 PCDHB13 56123 broad.mit.edu 37 5 140595675 140595675 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140595675G>T ENST00000341948.4 + 1 2167 c.1980G>T c.(1978-1980)gtG>gtT p.V660V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 660 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGCACGTGCTCCTGGTGG 0.711000 40 113 4.01765e-15 6.05375e-15 1 1 0 HCLS1 3059 broad.mit.edu 37 3 121351019 121351019 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:121351019C>A ENST00000314583.3 - 13 1344 c.1253G>T c.(1252-1254)tGc>tTc p.C418F HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.C381F NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 418 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) cccagccGGGCAGCCTGATGA 0.532000 14 43 9.31168e-06 1.02e-05 1 1 0 STX16 8675 broad.mit.edu 37 20 57246221 57246221 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:57246221G>A ENST00000371141.4 + 7 1384 c.660G>A c.(658-660)gaG>gaA p.E220E STX16_ENST00000359617.4_Silent_p.E167E|STX16_ENST00000371132.4_Silent_p.E199E|STX16_ENST00000361830.3_Silent_p.E220E|STX16_ENST00000358029.4_Silent_p.E216E|STX16_ENST00000496003.1_Intron|STX16_ENST00000355957.5_Silent_p.E203E|STX16_ENST00000361770.5_Silent_p.E203E|STX16-NPEPL1_ENST00000530122.1_Silent_p.E220E NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 220 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) GTTTTACAGAGGACCAGTTAG 0.413000 15 74 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966358 41966358 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:41966358G>T ENST00000298919.7 + 10 1385 c.997G>T c.(997-999)Gac>Tac p.D333Y PDZRN4_ENST00000539469.2_Missense_Mutation_p.D335Y|PDZRN4_ENST00000402685.2_Missense_Mutation_p.D593Y Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 593 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCAGAGCCAAGACACTCTGGG 0.493000 20 53 1.28384e-07 1.48444e-07 1 1 0 IGFN1 91156 broad.mit.edu 37 1 201195251 201195251 + Splice_Site SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:201195251G>T ENST00000335211.4 + 22 10916 c.10786_splice c.e22+1 p.D3596_splice IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCGGCAGCGCGGTAAGCAGCC 0.662000 9 21 3.09899e-07 3.51007e-07 1 1 0 RNF217 154214 broad.mit.edu 37 6 125284172 125284172 + Translation_Start_Site SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:125284172A>T ENST00000560949.1 + 0 311 RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000521654.2_Missense_Mutation_p.Q161L Q8TC41 RN217_HUMAN ring finger protein 217 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) GCCAAGAGACAAGTCTTCTGC 0.741000 4 12 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31835994 31835994 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr22:31835994G>A ENST00000397525.1 - 19 3053 c.2830C>T c.(2830-2832)Cgc>Tgc p.R944C EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R920C|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R599C|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R770C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R944C NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 944 nucleus protein binding|protein transporter activity p.R944C(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGCTGGGGCGATGCTCCAGC 0.622000 9 100 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80046325 80046325 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:80046325G>A ENST00000306749.2 - 16 2752 c.2534C>T c.(2533-2535)cCg>cTg p.P845L NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 845 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTCGGCGGCCGGCACGTCCCA 0.662000 13 43 0 0 1 0 0 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + RNA SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:114355998C>G ENST00000538033.2 + 0 2178 CCAAGGTGGGCACTTGATGTC 0.612000 3 17 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803783 142803783 + RNA SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:142803783A>T ENST00000423385.1 - 0 1182 atagttaacaaagtagctggc 0.403000 3 5 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105672 168105672 + Silent SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:168105672A>G ENST00000409195.1 + 9 7859 c.7770A>G c.(7768-7770)caA>caG p.Q2590Q XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q2590Q|XIRP2_ENST00000409273.1_Silent_p.Q2368Q|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2415 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGCCATTACAAAAAACCAATG 0.393000 37 109 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70531901 70531901 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:70531901T>C ENST00000323786.5 - 10 1274 c.1253A>G c.(1252-1254)cAg>cGg p.Q418R NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 414 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) AATTAGCTCCTGCATGGTACA 0.458000 40 102 0 0 1 0 0 CCSER2 54462 broad.mit.edu 37 10 86132045 86132045 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:86132045G>T ENST00000224756.8 + 2 1422 c.1237G>T c.(1237-1239)Gac>Tac p.D413Y CCSER2_ENST00000359979.4_Missense_Mutation_p.D413Y|CCSER2_ENST00000372088.2_Missense_Mutation_p.D413Y NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 TTTAAGTGAAGACTTTAGTGA 0.363000 11 115 1.08611e-07 1.26459e-07 1 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140741247 140741247 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140741247C>A ENST00000522605.1 + 1 1545 c.1545C>A c.(1543-1545)ttC>ttA p.F515L PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGTGTTCGCGCAGCGCG 0.667000 22 55 7.41877e-09 8.98428e-09 1 1 0 TAS2R46 259292 broad.mit.edu 37 12 11214037 11214037 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:11214037A>G ENST00000533467.1 - 1 856 c.857T>C c.(856-858)cTa>cCa p.L286P PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 286 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AGTCTGCTTTAGCTTCTTGTT 0.428000 76 263 0 0 1 0 0 ZNF200 7752 broad.mit.edu 37 16 3274353 3274353 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:3274353T>A ENST00000431561.3 - 5 1339 c.727A>T c.(727-729)Act>Tct p.T243S ZNF200_ENST00000396871.4_Missense_Mutation_p.T242S|ZNF200_ENST00000575948.1_Missense_Mutation_p.T242S|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.T243S|ZNF200_ENST00000396868.3_Missense_Mutation_p.T242S|ZNF200_ENST00000396870.4_Missense_Mutation_p.T242S NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 CGATTTCGAGTAAGGGCAATA 0.408000 30 134 0 0 1 0 0 FAM60A 58516 broad.mit.edu 37 12 31435711 31435711 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:31435711C>G ENST00000337682.4 - 6 969 c.601G>C c.(601-603)Gca>Cca p.A201P FAM60A_ENST00000454658.2_Missense_Mutation_p.A201P|FAM60A_ENST00000539409.1_Missense_Mutation_p.A53P|FAM60A_ENST00000395766.1_Missense_Mutation_p.A53P|FAM60A_ENST00000542983.1_Missense_Mutation_p.A53P NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 201 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) TCAGCAGCTGCTTTCTTATTG 0.468000 17 60 0 0 1 0 0 ADO 84890 broad.mit.edu 37 10 64565041 64565041 + Silent SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:64565041A>G ENST00000373783.1 + 1 526 c.222A>G c.(220-222)acA>acG p.T74T RP11-436D10.3_ENST00000425290.1_RNA NM_032804.5 NP_116193.2 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 74 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GCAAGGCCACACTGCAGCCGC 0.662000 7 24 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140243 178140243 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:178140243T>A ENST00000335815.2 - 5 833 c.636A>T c.(634-636)aaA>aaT p.K212N NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 212 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|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) all cancers(165;0.185) ATTTATAGCGTTTATCTGCTG 0.333000 45 127 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491319 30491319 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:30491319C>A ENST00000222823.4 - 6 2239 c.1714G>T c.(1714-1716)Ggt>Tgt p.G572C NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 572 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CGCGCCGGACCACTGCCCTGC 0.607000 25 75 5.35047e-06 5.89969e-06 1 1 0 CTSC 1075 broad.mit.edu 37 11 88027450 88027450 + Silent SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:88027450A>G ENST00000227266.5 - 7 1230 c.1116T>C c.(1114-1116)gtT>gtC p.V372V NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 372 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTCAAAAGCAACTGCCATGG 0.463000 33 104 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919525 4919525 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:4919525G>T ENST00000433855.1 + 1 1184 c.318G>T c.(316-318)ctG>ctT p.L106L KCNA6_ENST00000280684.3_Silent_p.L106L NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 106 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GGGGCCGCCTGCGGAGGCCGG 0.652000 HNSCC(72;0.22) 23 88 2.50493e-22 4.32198e-22 1 1 0 VCAN 1462 broad.mit.edu 37 5 82836899 82836899 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:82836899C>G ENST00000265077.3 + 8 8642 c.8077C>G c.(8077-8079)Ctg>Gtg p.L2693V VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L1706V|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2693 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGCAACATCCCTGCCAATTCC 0.448000 26 113 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384243 25384243 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:25384243C>A ENST00000405623.1 - 3 966 c.511G>T c.(511-513)Gcc>Tcc p.A171S POMC_ENST00000395826.2_Missense_Mutation_p.A171S|POMC_ENST00000264708.3_Missense_Mutation_p.A171S|POMC_ENST00000380794.1_Missense_Mutation_p.A171S P01189 COLI_HUMAN proopiomelanocortin 171 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) AGGGGGAAGGCCTCGGCCGAC 0.697000 5 17 1.23904e-05 1.33528e-05 1 1 0 SERPINB9 5272 broad.mit.edu 37 6 2896338 2896338 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:2896338C>A ENST00000380698.4 - 3 344 c.255G>T c.(253-255)ctG>ctT p.L85L NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 85 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) CCGTTCTCAGCAGGTACTGTG 0.443000 33 133 1.74807e-11 2.37595e-11 1 1 0 OR5M1 390168 broad.mit.edu 37 11 56380368 56380368 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:56380368C>A ENST00000526538.1 - 1 610 c.611G>T c.(610-612)gGc>gTc p.G204V NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GAGATTAAAGCCTGCAACTAC 0.453000 26 75 9.86323e-18 1.54927e-17 1 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14752650 14752650 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr18:14752650G>T ENST00000358984.4 + 2 487 c.307G>T c.(307-309)Gat>Tat p.D103Y ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D103Y|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 103 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAATGTCCTTGATGGCGAAGG 0.428000 5 21 1.23904e-05 1.33528e-05 1 1 0 CHD1 1105 broad.mit.edu 37 5 98204325 98204325 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:98204325C>A ENST00000284049.3 - 30 4271 c.4122G>T c.(4120-4122)aaG>aaT p.K1374N CHD1_ENST00000511067.1_5'UTR NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1374 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TACCATCAGACTTGGATTCAC 0.378000 26 75 3.08376e-08 3.66747e-08 1 1 0 CTU2 348180 broad.mit.edu 37 16 88779313 88779313 + Splice_Site SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:88779313G>C ENST00000567949.1 + 7 959 c.950_splice c.e7+1 p.R317_splice CTU2_ENST00000378384.3_Splice_Site_p.R159_splice|CTU2_ENST00000312060.5_Splice_Site_p.R246_splice|CTU2_ENST00000453996.2_Splice_Site_p.R246_splice Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 246 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 CAGACCCTGCGGTGAGGCCCC 0.677000 7 28 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61846512 61846512 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:61846512G>A ENST00000280772.1 - 30 3862 c.3671C>T c.(3670-3672)cCg>cTg p.P1224L ANK3_ENST00000503366.1_Missense_Mutation_p.P1225L|ANK3_ENST00000355288.2_Missense_Mutation_p.P358L|ANK3_ENST00000373827.2_Missense_Mutation_p.P1218L NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1224 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCCTGAGGGCGGGGGCACCGG 0.463000 27 80 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20782623 20782623 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:20782623G>C ENST00000404938.2 + 25 3800 c.3148G>C c.(3148-3150)Ggg>Cgg p.G1050R ABCB5_ENST00000258738.6_Missense_Mutation_p.G605R NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 605 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGCATTTGTGGGGAGCAGCGG 0.478000 15 63 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75263547 75263547 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:75263547G>A ENST00000546196.1 - 7 4040 c.2388C>T c.(2386-2388)ggC>ggT p.G796G BCAR1_ENST00000535626.2_Silent_p.G677G|BCAR1_ENST00000162330.5_Silent_p.G825G|BCAR1_ENST00000538440.2_Silent_p.G825G|BCAR1_ENST00000393420.6_Silent_p.G843G|BCAR1_ENST00000418647.3_Silent_p.G871G|BCAR1_ENST00000542031.2_Silent_p.G823G|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.G843G|BCAR1_ENST00000393422.2_Silent_p.G843G P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 825 Divergent helix-loop-helix motif. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TGGCCACGATGCCGCGCAGGA 0.662000 7 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065265 9065265 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:9065265G>T ENST00000397910.4 - 3 22384 c.22181C>A c.(22180-22182)tCc>tAc p.S7394Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7396 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACAGCTGGGAAGATGGAGG 0.507000 16 22 3.41278e-10 4.38786e-10 1 1 0 WDR93 56964 broad.mit.edu 37 15 90258279 90258279 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:90258279C>A ENST00000268130.7 + 6 810 c.709C>A c.(709-711)Ccc>Acc p.P237T WDR93_ENST00000560294.1_Missense_Mutation_p.P237T NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 237 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) ACTAGAGCACCCCCAACTCAC 0.468000 9 43 3.09899e-07 3.51007e-07 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118539047 118539047 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:118539047C>T ENST00000336338.5 - 34 5064 c.4999G>A c.(4999-5001)Gca>Aca p.A1667T NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1667 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCTTTATATGCCAAAGATAGA 0.383000 22 95 0 0 1 0 0 GPR84 53831 broad.mit.edu 37 12 54757622 54757622 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:54757622G>T ENST00000551809.1 - 1 649 c.14C>A c.(13-15)tCt>tAt p.S5Y RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.S5Y Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 5 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GTTGGCGTCAGAGCTGTTCCA 0.522000 14 27 6.08587e-21 1.01839e-20 1 1 0 TENM1 10178 broad.mit.edu 37 X 123556352 123556352 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:123556352T>C ENST00000422452.2 - 24 4304 c.4241A>G c.(4240-4242)cAg>cGg p.Q1414R TENM1_ENST00000371130.3_Missense_Mutation_p.Q1407R|STAG2_ENST00000469481.1_3'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCCTGGCACCTGGCAGTGAAT 0.517000 43 54 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666612 19666612 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr21:19666612C>A ENST00000284885.3 - 21 2494 c.2461G>T c.(2461-2463)Gtg>Ttg p.V821L NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 821 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GCGGCGGACACCAGCCAGTCA 0.577000 27 76 2.48779e-11 3.36762e-11 1 1 0 PTPRN2 5799 broad.mit.edu 37 7 157926403 157926403 + Nonsense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:157926403C>A ENST00000389413.3 - 9 1625 c.1522G>T c.(1522-1524)Gaa>Taa p.E508* PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.E491*|PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.E508*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.E531*|PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.E470* NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 508 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) CGCGCCTCTTCCTCGGAAGGC 0.642000 24 80 7.92952e-12 1.09566e-11 1 1 0 OTUD7B 56957 broad.mit.edu 37 1 149919237 149919237 + Splice_Site SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:149919237C>A ENST00000369135.3 - 11 1533 c.e11-1 NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CAGAATTACACTATGAAAAAG 0.423000 32 32 4.02929e-09 4.98793e-09 1 1 0 ERCC6 2074 broad.mit.edu 37 10 50690906 50690906 + Missense_Mutation SNP G G A rs61760163 byFrequency TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:50690906G>A ENST00000355832.5 - 10 2074 c.1996C>T c.(1996-1998)Cgc>Tgc p.R666C ERCC6_ENST00000542458.1_Missense_Mutation_p.R36C NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 666 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGAGGGGTGCGAAACTATTTG 0.433000 Direct reversal of damage;Nucleotide excision repair (NER) 19 77 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60032812 60032812 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:60032812C>G ENST00000397786.2 - 26 5975 c.5899G>C c.(5899-5901)Gct>Cct p.A1967P NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1967 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGCACAGAAGCAGAAGTAGGA 0.378000 22 121 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716156 50716156 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr22:50716156C>A ENST00000449103.1 - 33 5200 c.5060G>T c.(5059-5061)cGg>cTg p.R1687L PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1687L O15031 PLXB2_HUMAN plexin B2 1687 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACCCAGAACCGGAGCGGTAA 0.642000 23 87 5.35356e-11 7.15958e-11 1 1 0 GRIP2 80852 broad.mit.edu 37 3 14558608 14558608 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:14558608G>T ENST00000273083.3 - 0 1334 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TGCCTCCTCCGCCCCATTGTA 0.572000 4 21 0.0215528 0.0218148 1 1 0 SCFD1 23256 broad.mit.edu 37 14 31191118 31191118 + Nonsense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:31191118C>T ENST00000458591.2 + 22 1992 c.1765C>T c.(1765-1767)Caa>Taa p.Q589* SCFD1_ENST00000396629.2_Nonsense_Mutation_p.Q497*|SCFD1_ENST00000544052.2_Nonsense_Mutation_p.Q522*|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.Q530*|SCFD1_ENST00000541123.1_Nonsense_Mutation_p.Q404* NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 589 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) AAATCCATTCCAAGAGGTAAG 0.333000 25 59 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21712280 21712280 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:21712280G>T ENST00000388958.3 + 10 913 c.912G>T c.(910-912)ctG>ctT p.L304L OTOA_ENST00000388956.4_Silent_p.L225L|OTOA_ENST00000286149.4_Silent_p.L304L NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 304 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CACCTGAGCTGGCCCAGGCGT 0.527000 31 46 2.81731e-10 3.6363e-10 1 1 0 LCT 3938 broad.mit.edu 37 2 136570356 136570356 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:136570356G>T ENST00000264162.2 - 7 1888 c.1878C>A c.(1876-1878)ttC>ttA p.F626L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 626 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCCCAGCATGAAGTGCAAGA 0.587000 22 80 1.96292e-10 2.55333e-10 1 1 0 C15orf26 161502 broad.mit.edu 37 15 81428949 81428949 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:81428949G>T ENST00000286732.4 + 3 335 c.252G>T c.(250-252)gtG>gtT p.V84V NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 84 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 AAGCTGATGTGTTTCTGCGTG 0.458000 32 85 1.99505e-19 3.27267e-19 1 1 0 MCHR2 84539 broad.mit.edu 37 6 100403881 100403881 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:100403881C>A ENST00000281806.2 - 2 457 c.143G>T c.(142-144)gGg>gTg p.G48V MCHR2_ENST00000445970.1_Missense_Mutation_p.G48V|MCHR2_ENST00000369212.1_Missense_Mutation_p.G48V NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 48 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCCAACCAGCCCTGTTGAACA 0.378000 29 91 1.17739e-12 1.67552e-12 1 1 0 TTC29 83894 broad.mit.edu 37 4 147861018 147861018 + Silent SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:147861018T>C ENST00000513335.1 - 4 307 c.108A>G c.(106-108)acA>acG p.T36T TTC29_ENST00000325106.4_Silent_p.T10T|TTC29_ENST00000398886.4_Silent_p.T36T|RP11-292D4.2_ENST00000515530.1_RNA Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 10 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GCTTCGGGCGTGTCATGGGCA 0.433000 12 31 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107834356 107834356 + Nonsense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:107834356G>T ENST00000328300.6 + 20 1478 c.1234G>T c.(1234-1236)Gga>Tga p.G412* COL4A5_ENST00000361603.2_Nonsense_Mutation_p.G412* NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 412 Triple-helical region. G -> V (in APSX; adult type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding 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 AGGTGATGAAGGACCACCTGG 0.552000 Alport syndrome with Diffuse Leiomyomatosis 25 58 7.92952e-12 1.09566e-11 1 1 0 TBX1 6899 broad.mit.edu 37 22 19766908 19766908 + Missense_Mutation SNP C C G rs147834990 TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr22:19766908C>G ENST00000329705.7 + 9 1304 c.1175C>G c.(1174-1176)aCc>aGc p.T392S TBX1_ENST00000359500.3_Intron NM_080646.1 NP_542377.1 O43435 TBX1_HUMAN T-box 1 392 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) GCTGGGAGGACCGCAGGTGAC 0.567000 20 51 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78032663 78032663 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:78032663T>A ENST00000397545.4 + 9 1351 c.1324T>A c.(1324-1326)Tat>Aat p.Y442N CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000374877.3_Missense_Mutation_p.Y442N|CCDC40_ENST00000269318.5_Missense_Mutation_p.Y442N NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 442 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCAGGACCTGTATGTGGACCA 0.572000 30 102 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903668 119903668 + Nonsense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:119903668G>A ENST00000313400.4 - 4 1205 c.1105C>T c.(1105-1107)Cag>Tag p.Q369* ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q369* O75129 ASTN2_HUMAN astrotactin 2 369 integral to membrane 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 GGTTGCAGCTGACCGATCTCG 0.587000 19 48 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 207012518 207012518 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:207012518C>T ENST00000233190.5 - 6 645 c.379G>A c.(379-381)Gac>Aac p.D127N NDUFS1_ENST00000455934.2_Missense_Mutation_p.D141N|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D127N|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D91N|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D16N|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D11N|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D70N NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 127 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) ATAGGACAGTCCAATGGGTGA 0.363000 50 126 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107566948 107566948 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:107566948C>A ENST00000374736.3 - 32 4912 c.4518G>T c.(4516-4518)tcG>tcT p.S1506S NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1506 S -> L (in HDLD1). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding p.S1506S(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAGATAATCCGAAATGTTTC 0.388000 54 212 1.61742e-36 2.94317e-36 1 1 0 GPAT2 150763 broad.mit.edu 37 2 96690281 96690281 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:96690281G>T ENST00000434632.1 - 16 2022 c.1563C>A c.(1561-1563)atC>atA p.I521I GPAT2_ENST00000359548.4_Silent_p.I521I|GPAT2_ENST00000453542.1_Silent_p.I450I|GPAT2_ENST00000377137.3_Silent_p.I521I Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 521 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CACCCTGACGGATGCGCAGCA 0.652000 35 66 9.04072e-19 1.45438e-18 1 1 0 HOXA3 3200 broad.mit.edu 37 7 27149788 27149788 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:27149788A>G ENST00000396352.4 - 2 671 c.472T>C c.(472-474)Tgg>Cgg p.W158R HOXA3_ENST00000317201.2_Missense_Mutation_p.W158R|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 158 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TCTTTCATCCAGGGGAAGATT 0.572000 31 76 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784429 140784429 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140784429C>T ENST00000573521.1 + 1 1910 c.1910C>T c.(1909-1911)gCg>gTg p.A637V PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAGAGATGCGCTCAAACAG 0.607000 28 56 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918992 21918992 + Missense_Mutation SNP T T G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:21918992T>G ENST00000240662.2 - 3 1285 c.940A>C c.(940-942)Att>Ctt p.I314L RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 314 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TCCTCAGCAATGTAGGAGGTT 0.478000 25 92 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8136235 8136235 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:8136235G>C ENST00000315684.8 - 11 1941 c.1934C>G c.(1933-1935)cCa>cGa p.P645R NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 645 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TATCAGCCGTGGGTCACTGAG 0.547000 64 140 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101817565 101817565 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:101817565G>T ENST00000360035.2 + 0 491 NR_002216.1 endometrium(2)|lung(8) 10 GAGTTGGATAGTGAATTCAAT 0.443000 6 13 0.00198382 0.00203265 1 1 0 PLA1A 51365 broad.mit.edu 37 3 119347560 119347560 + Silent SNP A A G rs41271395 byFrequency TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:119347560A>G ENST00000273371.4 + 10 1206 c.1134A>G c.(1132-1134)caA>caG p.Q378Q PLA1A_ENST00000488919.1_Silent_p.Q205Q|PLA1A_ENST00000495992.1_Silent_p.Q362Q|PLA1A_ENST00000494440.1_Silent_p.Q362Q NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 378 Involved in the recognition of diacyl- phospholipids. lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTAAGCAGCAACGCTATGGGA 0.483000 6 88 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239870 135239870 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:135239870C>T ENST00000265605.2 - 7 1215 c.1147G>A c.(1147-1149)Gat>Aat p.D383N ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D329N|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D333N NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 383 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CAGGATTCATCCTTAATGTCT 0.493000 44 112 0 0 1 0 0 ATG7 10533 broad.mit.edu 37 3 11402238 11402238 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:11402238G>T ENST00000354449.3 + 14 1688 c.1663G>T c.(1663-1665)Gat>Tat p.D555Y ATG7_ENST00000354956.5_Missense_Mutation_p.D555Y|ATG7_ENST00000446450.2_Missense_Mutation_p.D516Y NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 555 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CTTCTGCAATGATGTGGTGGC 0.493000 83 250 1.0532e-45 1.94842e-45 1 1 0 CHD6 84181 broad.mit.edu 37 20 40085957 40085957 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:40085957C>A ENST00000373233.3 - 18 2953 c.2776G>T c.(2776-2778)Ggg>Tgg p.G926W CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 926 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTGTCCAGCCCCAGCTTTAGG 0.542000 27 40 7.16444e-05 7.59796e-05 1 1 0 CCDC138 165055 broad.mit.edu 37 2 109455669 109455669 + Missense_Mutation SNP A A C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:109455669A>C ENST00000295124.4 + 11 1295 c.1235A>C c.(1234-1236)cAg>cCg p.Q412P CCDC138_ENST00000412964.2_Missense_Mutation_p.Q412P NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 412 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 GAGCAGCTACAGTGGATGCCA 0.343000 27 59 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94395203 94395203 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:94395203T>A ENST00000267594.5 + 3 1065 c.758T>A c.(757-759)cTg>cAg p.L253Q FAM181A_ENST00000556222.1_Missense_Mutation_p.L191Q|FAM181A_ENST00000557719.1_Missense_Mutation_p.L191Q|FAM181A_ENST00000557000.2_Missense_Mutation_p.L191Q NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 253 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 CCAAGGGCCCTGGCTGAAAAG 0.602000 12 29 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228476575 228476575 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:228476575C>A ENST00000570156.2 + 43 11686 c.11612C>A c.(11611-11613)aCt>aAt p.T3871N OBSCN_ENST00000366709.4_Missense_Mutation_p.T561N|OBSCN_ENST00000359599.6_Missense_Mutation_p.T2289N|OBSCN_ENST00000366707.4_Missense_Mutation_p.T561N|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3442N|OBSCN_ENST00000422127.1_Missense_Mutation_p.T3442N NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2908 Ig-like 39. 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) ACCTCTGCCACTCTCACCGTG 0.612000 20 71 2.21704e-12 3.12827e-12 1 1 0 FN1 2335 broad.mit.edu 37 2 216251493 216251493 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:216251493G>T ENST00000354785.4 - 28 4900 c.4531C>A c.(4531-4533)Cca>Aca p.P1511T FN1_ENST00000359671.1_Missense_Mutation_p.P1420T|FN1_ENST00000446046.1_Missense_Mutation_p.P1420T|FN1_ENST00000432072.2_Missense_Mutation_p.P1511T|FN1_ENST00000421182.1_Missense_Mutation_p.P1420T|FN1_ENST00000357867.4_Missense_Mutation_p.P1420T|FN1_ENST00000357009.2_Missense_Mutation_p.P1420T|FN1_ENST00000356005.4_Missense_Mutation_p.P1420T|FN1_ENST00000346544.3_Missense_Mutation_p.P1420T|FN1_ENST00000345488.5_Missense_Mutation_p.P1420T|FN1_ENST00000336916.4_Missense_Mutation_p.P1420T|FN1_ENST00000323926.6_Missense_Mutation_p.P1511T|FN1_ENST00000443816.1_Missense_Mutation_p.P1420T P02751 FINC_HUMAN fibronectin 1 1510 Cell-attachment.|Fibronectin type-III 10. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTGTGCCTGGAGTGAGGTTG 0.517000 21 59 1.28384e-07 1.48444e-07 1 1 0 COL3A1 1281 broad.mit.edu 37 2 189874947 189874947 + Silent SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:189874947T>A ENST00000304636.3 + 49 4037 c.3867T>A c.(3865-3867)gcT>gcA p.A1289A COL3A1_ENST00000317840.5_Silent_p.A986A NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1289 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AATTGGATGCTATCAAGGTAT 0.388000 33 96 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56398798 56398798 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:56398798A>G ENST00000394109.3 + 3 2349 c.1625A>G c.(1624-1626)tAt>tGt p.Y542C SUOX_ENST00000548274.1_Missense_Mutation_p.Y542C|SUOX_ENST00000266971.3_Missense_Mutation_p.Y542C|SUOX_ENST00000356124.4_Missense_Mutation_p.Y542C|SUOX_ENST00000394115.2_Missense_Mutation_p.Y542C P51687 SUOX_HUMAN sulfite oxidase 542 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GTCCATGTCTATGTCTCCCCA 0.527000 54 151 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78332046 78332046 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:78332046G>T ENST00000370791.3 + 14 1565 c.1533G>T c.(1531-1533)tcG>tcT p.S511S FAM73A_ENST00000443751.2_Silent_p.S473S NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 511 integral to membrane p.S511S(1) breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) GTTGTTGGTCGGTGCTGAAAC 0.323000 25 111 7.41945e-09 8.98428e-09 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34208987 34208987 + Silent SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:34208987T>A ENST00000373381.4 - 14 2243 c.2067A>T c.(2065-2067)tcA>tcT p.S689S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 649 Sushi 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTGGTTTCCTGAGAAGGTGC 0.592000 27 77 0 0 1 0 0 TP53AIP1 63970 broad.mit.edu 37 11 128807551 128807551 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:128807551G>T ENST00000602346.1 - 2 372 c.163C>A c.(163-165)Cga>Aga p.R55R TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron NM_001251964.1 NP_001238893.1 Q9HCN2 TPIP1_HUMAN tumor protein p53 regulated apoptosis inducing protein 1 0 apoptosis mitochondrion large_intestine(1)|lung(1)|skin(1) 3 AGACCGTCTCGGTTTTCACTG 0.612000 37 82 1.30998e-17 2.048e-17 1 1 0 EYA2 2139 broad.mit.edu 37 20 45811992 45811992 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:45811992T>A ENST00000327619.5 + 15 1863 c.1489T>A c.(1489-1491)Tac>Aac p.Y497N EYA2_ENST00000357410.3_Missense_Mutation_p.Y418N|EYA2_ENST00000317304.6_Missense_Mutation_p.Y467N NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 497 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) AAAAGCTGTCTACGTGGTGAT 0.532000 35 87 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35045465 35045465 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:35045465G>T ENST00000290374.4 - 2 656 c.180C>A c.(178-180)ccC>ccA p.P60P NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 60 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GGTTACAGCCGGGCTGCAGGG 0.547000 22 70 6.44725e-10 8.2258e-10 1 1 0 FLOT2 2319 broad.mit.edu 37 17 27207763 27207763 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:27207763C>A ENST00000394906.2 - 12 1458 c.1381G>T c.(1381-1383)Gtg>Ttg p.V461L FLOT2_ENST00000585169.1_Missense_Mutation_p.V406L|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.V406L Q14254 FLOT2_HUMAN flotillin 2 406 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AGGGCATGCACAGAGGCAGGC 0.597000 34 105 3.90053e-15 5.90398e-15 1 1 0 ATP6V1G3 127124 broad.mit.edu 37 1 198492575 198492575 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:198492575G>A ENST00000367381.1 - 5 426 c.321C>T c.(319-321)agC>agT p.S107S ATP6V1G3_ENST00000281087.2_Silent_p.S101S|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Silent_p.S107S|ATP6V1G3_ENST00000367382.1_Silent_p.S101S Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 101 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 CACAGACCATGCTCAAGAGCT 0.383000 10 52 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686212 67686212 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:67686212C>A ENST00000334583.6 + 27 3115 c.2787C>A c.(2785-2787)ttC>ttA p.F929L RLTPR_ENST00000545661.1_Missense_Mutation_p.F893L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 929 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTCTTTTCTTCCCCGaggaga 0.567000 17 75 1.99824e-07 2.28664e-07 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55179238 55179238 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:55179238C>T ENST00000391736.1 + 13 1509 c.1194C>T c.(1192-1194)gaC>gaT p.D398D LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Silent_p.D398D|LILRB4_ENST00000430952.2_Silent_p.D397D|LILRB4_ENST00000391733.3_Silent_p.D399D NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 398 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GACAGATGGACACTGAGGTGA 0.602000 12 33 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43893883 43893883 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:43893883C>A ENST00000314537.5 + 3 401 c.176C>A c.(175-177)cCt>cAt p.P59H CRHR1_ENST00000352855.5_Intron|CRHR1_ENST00000398285.3_Missense_Mutation_p.P59H|CRHR1_ENST00000577353.1_Missense_Mutation_p.P59H|CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000293493.7_5'UTR NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 59 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCCCGCAGCCCTGCGGGGCAG 0.607000 17 34 0.000566183 0.000589184 1 1 0 CYP2C9 1559 broad.mit.edu 37 10 96701771 96701771 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:96701771G>C ENST00000260682.6 + 2 337 c.325G>C c.(325-327)Gga>Cga p.G109R CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 109 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGCTAACAGAGGATTTGGTAG 0.512000 55 158 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36583748 36583748 + Nonsense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:36583748G>T ENST00000280527.2 + 1 680 c.313G>T c.(313-315)Gaa>Taa p.E105* NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 105 IGFBP N-terminal. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CACCGAGTACGAAGCGGGCGT 0.701000 17 47 1.99824e-07 2.28664e-07 1 1 0 MSGN1 343930 broad.mit.edu 37 2 17998038 17998038 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:17998038G>A ENST00000281047.3 + 1 276 c.253G>A c.(253-255)Ggt>Agt p.G85S NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 85 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCAGTGTCGGTGGGGCCAG 0.632000 15 82 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52067896 52067896 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:52067896C>T ENST00000361781.2 - 10 1867 c.908G>A c.(907-909)cGa>cAa p.R303Q SGMS1_ENST00000429490.1_Missense_Mutation_p.R134Q NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 309 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CCACCAGAGTCGCCGAGGGGA 0.478000 20 59 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515614 70515614 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:70515614G>A ENST00000381269.2 - 7 3030 c.2277C>T c.(2275-2277)gcC>gcT p.A759A SLC8A3_ENST00000216568.7_Silent_p.A130A|SLC8A3_ENST00000356921.2_Silent_p.A753A|SLC8A3_ENST00000394330.2_Silent_p.A116A|SLC8A3_ENST00000533541.1_Silent_p.A116A|SLC8A3_ENST00000528359.1_Silent_p.A757A|SLC8A3_ENST00000357887.3_Silent_p.A757A|SLC8A3_ENST00000534137.1_Silent_p.A756A NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 759 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGATGGAGACGGCGAAGCAGG 0.572000 10 33 0 0 1 0 0 SLC25A4 291 broad.mit.edu 37 4 186068041 186068041 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:186068041C>T ENST00000281456.5 + 4 945 c.813C>T c.(811-813)ttC>ttT p.F271F NM_001151.3 NP_001142.2 P12235 ADT1_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 271 energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane adenine transmembrane transporter activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) Adenosine triphosphate(DB00171)|Clodronate(DB00720) AGGCCTTCTTCAAAGGTGCCT 0.448000 13 44 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2880254 2880254 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:2880254G>T ENST00000382280.3 + 1 85 c.6G>T c.(4-6)ggG>ggT p.G2G NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 2 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 TCTGGATGGGGGCCCAGGGGG 0.682000 13 11 2.32078e-09 2.89446e-09 1 1 0 CXorf27 25763 broad.mit.edu 37 X 37850307 37850307 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:37850307C>A ENST00000341016.3 + 1 238 c.215C>A c.(214-216)gCc>gAc p.A72D TM4SF2_ENST00000465127.1_Intron NM_012274.1 NP_036406.1 O75409 HYPM_HUMAN chromosome X open reading frame 27 72 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 GGCTTGGAGGCCAGCAACAAT 0.522000 24 40 1.9806e-07 2.28214e-07 1 1 0 CYP2C9 1559 broad.mit.edu 37 10 96698553 96698553 + Silent SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:96698553G>C ENST00000260682.6 + 1 126 c.114G>C c.(112-114)gtG>gtC p.V38V CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 38 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CTCTCCCAGTGATTGGAAATA 0.463000 36 174 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039668 31039668 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:31039668G>T ENST00000355537.3 + 4 3289 c.3142G>T c.(3142-3144)Gcg>Tcg p.A1048S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1048 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) AGCCCGGGAGGCGAGTAAGAT 0.542000 45 78 7.05121e-23 1.23582e-22 1 1 0 ATF2 1386 broad.mit.edu 37 2 175962188 175962188 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:175962188G>A ENST00000264110.2 - 11 1260 c.962C>T c.(961-963)tCc>tTc p.S321F ATF2_ENST00000409437.1_Missense_Mutation_p.S205F|ATF2_ENST00000409635.1_Missense_Mutation_p.S263F|ATF2_ENST00000538946.1_Missense_Mutation_p.S303F|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.S321F|ATF2_ENST00000345739.5_Missense_Mutation_p.S263F|ATF2_ENST00000426833.3_Missense_Mutation_p.S303F|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 321 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) TTCTGTAGTGGATGTGGCTGG 0.408000 13 171 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103859 168103859 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:168103859C>G ENST00000409195.1 + 9 6046 c.5957C>G c.(5956-5958)cCa>cGa p.P1986R XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1986R|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1764R|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1811 actin cytoskeleton organization cell junction actin binding p.P1986Q(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCATTTGAGCCAGCGGCCAAG 0.468000 27 64 0 0 1 0 0 KITLG 4254 broad.mit.edu 37 12 88912645 88912645 + Splice_Site SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:88912645C>A ENST00000347404.5 - 4 765 c.e4-1 KITLG_ENST00000228280.5_Splice_Site|KITLG_ENST00000378535.4_Splice_Site|KITLG_ENST00000357116.4_Intron NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 AATGACTTGGCTGCAAGATAT 0.353000 Testicular Cancer, Familial Clustering of 17 41 4.7546e-09 5.84237e-09 1 1 0 CST11 140880 broad.mit.edu 37 20 23433335 23433335 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:23433335C>A ENST00000377009.3 - 1 147 c.114G>T c.(112-114)atG>atT p.M38I CST11_ENST00000377007.3_Missense_Mutation_p.M38I NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 38 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) TTTCTACTGCCATCACTTCAT 0.493000 43 153 1.41504e-22 2.46705e-22 1 1 0 LRP1B 53353 broad.mit.edu 37 2 142012134 142012134 + Missense_Mutation SNP A A C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:142012134A>C ENST00000389484.3 - 4 1391 c.420T>G c.(418-420)tgT>tgG p.C140W NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 140 EGF-like 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) ATCCATCCTCACAGTAACATC 0.323000 TSP Lung(27;0.18) 13 50 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797607 76797607 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:76797607C>T ENST00000286719.7 - 11 1509 c.1153G>A c.(1153-1155)Gag>Aag p.E385K NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 385 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CGGGAGAGCTCCCGCCCGTCC 0.672000 16 53 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27412634 27412634 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:27412634C>A ENST00000527372.1 - 40 6065 c.5885G>T c.(5884-5886)aGa>aTa p.R1962I MYO18A_ENST00000354329.4_Missense_Mutation_p.R1962I|MYO18A_ENST00000533112.1_Intron|TIAF1_ENST00000408971.2_Intron|MYO18A_ENST00000529578.1_Intron|MYO18A_ENST00000531253.1_Intron NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1962 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TTTATTCTTTCTTTTCTGATA 0.522000 16 33 7.07596e-05 7.5281e-05 1 1 0 BRINP3 339479 broad.mit.edu 37 1 190067807 190067807 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:190067807G>A ENST00000367462.3 - 8 1873 c.1642C>T c.(1642-1644)Cat>Tat p.H548Y FAM5C_ENST00000534846.1_Missense_Mutation_p.H446Y|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 548 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAAATCATATGGACCAGACTT 0.468000 39 134 0 0 1 0 0 PAK1IP1 55003 broad.mit.edu 37 6 10697641 10697641 + Missense_Mutation SNP A A C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:10697641A>C ENST00000379568.3 + 2 460 c.169A>C c.(169-171)Act>Cct p.T57P NM_017906.2 NP_060376.2 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 57 negative regulation of signal transduction nucleolus|plasma membrane kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) TTTTGTGGTCACTGGGAGCAA 0.423000 41 169 0 0 1 0 0 FAM110A 83541 broad.mit.edu 37 20 825986 825986 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:825986G>A ENST00000304189.2 + 3 920 c.539G>A c.(538-540)cGg>cAg p.R180Q FAM110A_ENST00000541082.1_Missense_Mutation_p.R180Q|FAM110A_ENST00000246100.3_Missense_Mutation_p.R180Q|RP11-276A18.2_ENST00000505691.2_RNA|FAM110A_ENST00000381939.1_Missense_Mutation_p.R180Q|FAM110A_ENST00000381941.3_Missense_Mutation_p.R180Q Q9BQ89 F110A_HUMAN family with sequence similarity 110, member A 180 Pro-rich. microtubule organizing center|spindle pole protein binding breast(1)|lung(2) 3 agcccagcccggccGCCGGGT 0.706000 4 7 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686967 68686967 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:68686967G>C ENST00000361320.4 + 2 871 c.293G>C c.(292-294)aGc>aCc p.S98T CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 98 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AACCATATCAGCAATATTGAC 0.373000 40 172 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111772 64111772 + Nonsense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:64111772G>T ENST00000356786.5 + 14 1803 c.1759G>T c.(1759-1761)Gag>Tag p.E587* CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 587 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGAGACACAGGAGTCCCCGGA 0.642000 11 44 1.08611e-07 1.26459e-07 1 1 0 ATP11C 286410 broad.mit.edu 37 X 138870481 138870481 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:138870481G>A ENST00000370557.1 - 14 2417 c.1390C>T c.(1390-1392)Cgt>Tgt p.R464C ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.R467C|ATP11C_ENST00000359686.2_Missense_Mutation_p.R467C|ATP11C_ENST00000370543.1_Missense_Mutation_p.R467C|ATP11C_ENST00000361648.2_Missense_Mutation_p.R467C Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 467 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CACAAGGCACGTAGAAACAGC 0.368000 32 48 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54914980 54914980 + Silent SNP C C T rs138460707 byFrequency TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:54914980C>T ENST00000293373.6 + 18 1915 c.1836C>T c.(1834-1836)tgC>tgT p.C612C NCKAP1L_ENST00000545638.2_Silent_p.C562C NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 612 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCAGCAATTGCGTCCTGGAGA 0.562000 21 75 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19052395 19052395 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr22:19052395G>A ENST00000545799.1 - 4 705 c.505C>T c.(505-507)Ccc>Tcc p.P169S DGCR2_ENST00000263196.7_Missense_Mutation_p.P172S|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P131S P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 172 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CTCCGCTCGGGCTGGTCCCAT 0.622000 18 57 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100253146 100253146 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:100253146C>T ENST00000160382.5 - 3 272 c.166G>A c.(166-168)Ggg>Agg p.G56R NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 56 Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity). chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTTTGTCCCCCTCCAGCTCC 0.632000 24 69 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185246 127185246 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:127185246G>T ENST00000371124.3 - 1 1136 c.940C>A c.(940-942)Ctc>Atc p.L314I NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 314 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TCCTTCATGAGCCTTTCCTCC 0.498000 51 81 6.27289e-28 1.11704e-27 1 1 0 PGBD2 267002 broad.mit.edu 37 1 249211673 249211673 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:249211673G>C ENST00000355360.4 + 3 407 c.137G>C c.(136-138)tGg>tCg p.W46S PGBD2_ENST00000329291.5_Missense_Mutation_p.W297S|PGBD2_ENST00000539153.1_Missense_Mutation_p.W294S NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 297 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TACAAGATTTGGTGTGGGACA 0.552000 95 122 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91803553 91803553 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:91803553G>T ENST00000394232.1 + 6 1392 c.922G>T c.(922-924)Ggc>Tgc p.G308C SV2B_ENST00000330276.4_Missense_Mutation_p.G308C|SV2B_ENST00000545111.2_Missense_Mutation_p.G157C NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 308 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TCACCAGATGGGCAAACATGA 0.458000 42 118 6.68952e-21 1.11381e-20 1 1 0 TGM6 343641 broad.mit.edu 37 20 2375118 2375118 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:2375118G>T ENST00000202625.2 + 2 89 c.28G>T c.(28-30)Gac>Tac p.D10Y TGM6_ENST00000381423.1_Missense_Mutation_p.D10Y|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 10 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CACCAAGGTGGACTGGCAGCG 0.627000 10 44 3.07112e-06 3.40894e-06 1 1 0 SP110 3431 broad.mit.edu 37 2 231050816 231050816 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:231050816C>A ENST00000258381.6 - 11 1250 c.1173G>T c.(1171-1173)gtG>gtT p.V391V SP110_ENST00000258382.5_Silent_p.V391V|SP110_ENST00000358662.4_Silent_p.V391V|SP110_ENST00000338556.3_Silent_p.V93V|SP110_ENST00000392048.3_Silent_p.V389V|SP110_ENST00000540870.1_Silent_p.V397V NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 391 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CCTTATCCACCACTTGGAGCT 0.502000 34 115 4.74835e-14 6.96565e-14 1 1 0 SMC1A 8243 broad.mit.edu 37 X 53440276 53440276 + Missense_Mutation SNP T T G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:53440276T>G ENST00000322213.4 - 4 648 c.521A>C c.(520-522)gAa>gCa p.E174A SMC1A_ENST00000375340.6_Intron|SMC1A_ENST00000463684.1_5'UTR NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 174 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CTTCACCATTTCCTTCTTTCG 0.458000 25 96 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323013 31323013 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr18:31323013G>A ENST00000269197.5 + 12 3201 c.3201G>A c.(3199-3201)caG>caA p.Q1067Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1067 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTCGGGCCCAGCGAGAGGCTG 0.617000 4 44 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180486720 180486720 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:180486720G>T ENST00000327705.9 + 11 1697 c.1466G>T c.(1465-1467)aGg>aTg p.R489M BTNL9_ENST00000376842.3_Missense_Mutation_p.R490M NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 489 B30.2/SPRY. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCAGGCCCAGGGCCCACGAC 0.647000 36 30 3.78316e-11 5.0798e-11 1 1 0 ITGA4 3676 broad.mit.edu 37 2 182359478 182359478 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:182359478G>T ENST00000397033.2 + 12 1708 c.1278G>T c.(1276-1278)tcG>tcT p.S426S NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 426 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAGCAAATCGTTAAGTATGT 0.308000 20 104 1.22574e-08 1.47354e-08 1 1 0 MYH1 4619 broad.mit.edu 37 17 10399616 10399616 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:10399616G>T ENST00000226207.5 - 34 5001 c.4907C>A c.(4906-4908)gCc>gAc p.A1636D CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1636 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity 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 CATGCGGTTGGCATGGTTCAG 0.507000 58 112 6.176e-18 9.79336e-18 1 1 0 GRID1 2894 broad.mit.edu 37 10 87628883 87628883 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:87628883T>C ENST00000327946.7 - 6 920 c.835A>G c.(835-837)Acc>Gcc p.T279A NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 279 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CGGACCACGGTCATCCTTCCA 0.522000 Multiple Myeloma(13;0.14) 41 116 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922667 43922667 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:43922667C>G ENST00000329196.5 + 1 412 c.395C>G c.(394-396)aCc>aGc p.T132S MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 132 integral to membrane aspartic-type endopeptidase activity TGCTCAGACACCACCCTGGCA 0.627000 13 47 0 0 1 0 0 MRPS15 64960 broad.mit.edu 37 1 36926905 36926905 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:36926905T>C ENST00000373116.5 - 4 421 c.260A>G c.(259-261)gAt>gGt p.D87G NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 87 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCACGACATCATCAACCCT 0.473000 14 53 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82333781 82333781 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:82333781C>T ENST00000376520.4 + 16 2409 c.1581C>T c.(1579-1581)atC>atT p.I527I TLE4_ENST00000376534.4_Silent_p.I132I|TLE4_ENST00000265284.6_Silent_p.I470I|TLE4_ENST00000376544.3_Silent_p.I426I|TLE4_ENST00000376552.2_Silent_p.I495I|TLE4_ENST00000376537.4_Silent_p.I527I O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CGGTGACCATCAGCAACCCCA 0.622000 9 168 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110843118 110843118 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:110843118G>A ENST00000296632.3 - 2 148 c.14C>T c.(13-15)tCt>tTt p.S5F STARD4_ENST00000502322.1_Missense_Mutation_p.S5F|STARD4_ENST00000512160.1_Missense_Mutation_p.S5F|STARD4_ENST00000511569.1_Intron|STARD4_ENST00000509887.1_Missense_Mutation_p.S5F NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 5 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) AGCAACATCAGACAGGCCTTC 0.413000 23 38 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555740 155555740 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:155555740C>A ENST00000295101.2 + 1 930 c.453C>A c.(451-453)atC>atA p.I151I KCNJ3_ENST00000544049.1_Silent_p.I151I NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 151 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ACCGATACATCACAGACAAGT 0.542000 13 62 0.00136819 0.00141055 1 1 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103473386 103473386 + Splice_Site SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr13:103473386G>T ENST00000602836.1 + 3 519 c.e3-1 BIVM_ENST00000448849.2_Splice_Site|BIVM_ENST00000419638.1_Splice_Site|BIVM_ENST00000257336.1_Splice_Site NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding TGTGTTCTCAGGTACTGCATA 0.343000 29 122 3.1745e-13 4.61619e-13 1 1 0 CADM3 57863 broad.mit.edu 37 1 159162411 159162411 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:159162411C>T ENST00000368125.4 + 3 430 c.273C>T c.(271-273)caC>caT p.H91H CADM3_ENST00000368124.4_Silent_p.H125H NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 91 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) CTACGCCCCACGAGCTCAGCA 0.517000 27 110 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902098 247902098 + Missense_Mutation SNP T T G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:247902098T>G ENST00000283225.2 + 1 182 c.182T>G c.(181-183)cTc>cGc p.L61R RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TACTTTTTCCTCCGACATTTG 0.488000 24 112 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38266344 38266344 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr13:38266344G>T ENST00000379705.3 - 4 1883 c.1026C>A c.(1024-1026)gtC>gtA p.V342V TRPC4_ENST00000379681.3_Silent_p.V342V|TRPC4_ENST00000358477.2_Silent_p.V342V|TRPC4_ENST00000338947.5_Silent_p.V169V|TRPC4_ENST00000355779.2_Silent_p.V342V|TRPC4_ENST00000379673.2_Silent_p.V342V|TRPC4_ENST00000379679.1_Silent_p.V169V|TRPC4_ENST00000447043.1_Silent_p.V342V|TRPC4_ENST00000426868.2_Silent_p.V342V Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 342 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ACACAGAGAAGACAGGAAAAA 0.468000 24 39 0.000375601 0.000393318 1 1 0 UGCG 7357 broad.mit.edu 37 9 114695260 114695260 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:114695260G>A ENST00000374279.3 + 9 1618 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K NM_003358.1 NP_003349.1 Q16739 CEGT_HUMAN UDP-glucose ceramide glucosyltransferase 390 epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) TACAGCAGAGGAAATCCTAGA 0.343000 25 57 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54914979 54914979 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:54914979G>T ENST00000293373.6 + 18 1914 c.1835G>T c.(1834-1836)tGc>tTc p.C612F NCKAP1L_ENST00000545638.2_Missense_Mutation_p.C562F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 612 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ACCAGCAATTGCGTCCTGGAG 0.562000 21 74 8.34094e-07 9.35196e-07 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114303530 114303530 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:114303530C>T ENST00000408937.3 + 16 2244 c.1870C>T c.(1870-1872)Cct>Tct p.P624S FOXP2_ENST00000403559.4_Missense_Mutation_p.P616S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.P599S|FOXP2_ENST00000350908.4_Missense_Mutation_p.P599S|FOXP2_ENST00000393498.2_Missense_Mutation_p.P578S|FOXP2_ENST00000393491.3_Missense_Mutation_p.P414S|FOXP2_ENST00000393489.3_Missense_Mutation_p.P507S NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 599 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 AAAAAATATACCTACCAGTTT 0.299000 18 64 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24040372 24040372 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:24040372G>A ENST00000397118.3 - 6 2470 c.1568C>T c.(1567-1569)cCa>cTa p.P523L JPH4_ENST00000356300.4_Missense_Mutation_p.P523L|JPH4_ENST00000544177.1_Missense_Mutation_p.P188L NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 523 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TCTGGGCCCTGGCCCTTGCAT 0.657000 91 319 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44841660 44841660 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:44841660G>T ENST00000372262.3 - 5 1406 c.1006C>A c.(1006-1008)Cag>Aag p.Q336K CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.Q336K NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 336 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) ATGGCCTCCTGAGTGTCGCTG 0.612000 7 51 1.76689e-08 2.10887e-08 1 1 0 OPALIN 93377 broad.mit.edu 37 10 98108059 98108059 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:98108059G>T ENST00000419479.1 - 6 713 c.206C>A c.(205-207)cCc>cAc p.P69H OPALIN_ENST00000536387.1_Missense_Mutation_p.P69H|OPALIN_ENST00000393870.2_Missense_Mutation_p.P68H|OPALIN_ENST00000393871.1_Missense_Mutation_p.P56H|OPALIN_ENST00000371172.3_Missense_Mutation_p.P79H NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein 79 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 AGATATCTTGGGATTGTCATC 0.328000 5 46 1.23904e-05 1.33528e-05 1 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812962 31812962 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr21:31812962G>T ENST00000334067.3 + 1 366 c.317G>T c.(316-318)gGt>gTt p.G106V NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 106 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 GGATCTCTTGGTTGTGGAAGC 0.483000 41 154 4.17593e-13 6.04603e-13 1 1 0 YWHAQ 10971 broad.mit.edu 37 2 9731527 9731527 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:9731527G>C ENST00000381844.4 - 2 575 c.412C>G c.(412-414)Cga>Gga p.R138G YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.R138G P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 138 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) TTACGTTTTCGATCATCACCA 0.373000 32 126 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100699 168100699 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:168100699C>G ENST00000409195.1 + 9 2886 c.2797C>G c.(2797-2799)Cga>Gga p.R933G XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R933G|XIRP2_ENST00000409273.1_Missense_Mutation_p.R711G|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 758 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGAGTACACACGAACAGTGAA 0.338000 22 67 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46116844 46116844 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:46116844G>C ENST00000536630.1 - 21 2358 c.2220C>G c.(2218-2220)gaC>gaG p.D740E EML2_ENST00000245925.3_Missense_Mutation_p.D593E|EML2_ENST00000589876.1_Missense_Mutation_p.D593E|EML2_ENST00000587152.1_Missense_Mutation_p.D794E NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 593 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CTTTGCCAAAGTCATCAGCTG 0.587000 15 51 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63963124 63963124 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:63963124C>A ENST00000324472.4 - 21 2189 c.2006G>T c.(2005-2007)cGg>cTg p.R669L DPY19L2_ENST00000413230.2_Missense_Mutation_p.R116L NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 669 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TATTTTTGTCCGAGCCCttta 0.249000 26 103 5.45024e-15 8.17536e-15 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829572 146829572 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:146829572C>A ENST00000361727.3 + 8 1835 c.1319C>A c.(1318-1320)aCc>aAc p.T440N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 440 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATCACACAGACCAAGATGAGC 0.408000 HNSCC(39;0.1) 25 88 9.86323e-18 1.54927e-17 1 1 0 FTCD 10841 broad.mit.edu 37 21 47570081 47570081 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr21:47570081G>A ENST00000397748.1 - 7 901 c.858C>T c.(856-858)tgC>tgT p.C286C FTCD_ENST00000397743.1_Silent_p.C286C|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Silent_p.C286C|FTCD_ENST00000291670.5_Silent_p.C286C|FTCD_ENST00000397746.3_Silent_p.C286C|FTCD_ENST00000359679.2_Silent_p.C286C O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 286 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCTCCTTCTCGCAGTAGAAGG 0.677000 8 16 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124212 65124212 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:65124212G>A ENST00000309880.5 + 2 1140 c.933G>A c.(931-933)cgG>cgA p.R311R NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 311 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 ACCGACACCGGCTGTTGGGCA 0.667000 17 41 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596998 136596998 + Silent SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:136596998A>T ENST00000531224.1 - 5 1917 c.1665T>A c.(1663-1665)ccT>ccA p.P555P BCLAF1_ENST00000353331.4_Silent_p.P553P|BCLAF1_ENST00000392348.2_Silent_p.P553P|BCLAF1_ENST00000530767.1_Silent_p.P382P|BCLAF1_ENST00000527536.1_Silent_p.P555P|BCLAF1_ENST00000527759.1_Silent_p.P553P NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 555 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AATCATCAAGAGGAACAGGTG 0.393000 18 283 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161300291 161300291 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:161300291C>A ENST00000428797.2 + 6 779 c.424C>A c.(424-426)Ccc>Acc p.P142T GABRA1_ENST00000437025.2_Missense_Mutation_p.P142T|GABRA1_ENST00000420560.1_Missense_Mutation_p.P142T|GABRA1_ENST00000444819.1_Missense_Mutation_p.P142T|GABRA1_ENST00000023897.6_Missense_Mutation_p.P142T|GABRA1_ENST00000393943.4_Missense_Mutation_p.P142T NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 142 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CATGACCATGCCCAACAAACT 0.473000 27 61 6.38683e-12 8.9362e-12 1 1 0 MRPL15 29088 broad.mit.edu 37 8 55060069 55060069 + Silent SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr8:55060069C>G ENST00000260102.4 + 5 755 c.681C>G c.(679-681)gcC>gcG p.A227A NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 227 translation large ribosomal subunit|mitochondrion structural constituent of ribosome endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) CGGATCCTGCCAAATTTCCTG 0.438000 22 92 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65855118 65855118 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:65855118C>T ENST00000395325.3 + 10 1359 c.1202C>T c.(1201-1203)aCg>aTg p.T401M DNAJC6_ENST00000263441.7_Missense_Mutation_p.T388M|DNAJC6_ENST00000371069.4_Missense_Mutation_p.T458M NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 401 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding p.T401M(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 CATCAAGATACGCTGGCCTTA 0.418000 29 75 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361450 70361450 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:70361450C>T ENST00000305107.6 - 1 176 c.130G>A c.(130-132)Gat>Aat p.D44N UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D44N|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 44 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACAAGTTCATCCAGGATTGTC 0.448000 51 183 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11159803 11159803 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:11159803G>T ENST00000304623.8 - 12 2233 c.2044C>A c.(2044-2046)Ctg>Atg p.L682M CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L345M|CTNND2_ENST00000458100.2_Missense_Mutation_p.L249M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L591M|CTNND2_ENST00000359640.2_Missense_Mutation_p.L682M NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 682 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GCGTTGGTCAGTACTGCTAGG 0.502000 42 116 3.54909e-21 6.02335e-21 1 1 0 ELL2 22936 broad.mit.edu 37 5 95234345 95234345 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:95234345G>T ENST00000237853.4 - 8 1473 c.1124C>A c.(1123-1125)cCt>cAt p.P375H ELL2_ENST00000431061.2_Intron NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 375 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CAGCGGTGGAGGGGTAGGGAT 0.547000 31 134 9.65021e-13 1.37919e-12 1 1 0 DGKK 139189 broad.mit.edu 37 X 50127767 50127767 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:50127767G>T ENST00000376025.2 - 0 2462 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CTTCCAGGAAGAAAGTTGAAC 0.423000 41 78 4.67007e-22 7.97503e-22 1 1 0 MAG 4099 broad.mit.edu 37 19 35801012 35801012 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr19:35801012C>A ENST00000361922.4 + 8 1617 c.1467C>A c.(1465-1467)acC>acA p.T489T MAG_ENST00000537831.2_Silent_p.T464T|MAG_ENST00000392213.3_Silent_p.T489T|MAG_ENST00000593348.1_3'UTR NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 489 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCATCTGCACCGCGAGGAACC 0.711000 18 80 1.45105e-14 2.16682e-14 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 29 1.23904e-05 1.33528e-05 1 1 0 LOC647264 647264 broad.mit.edu 37 13 64321102 64321102 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr13:64321102G>T ENST00000453638.2 + 1 169 c.169G>T c.(169-171)Ggc>Tgc p.G57C endometrium(2)|lung(1)|urinary_tract(1) 4 ctgtggctatggctccagcta 0.557000 18 13 3.99206e-14 5.90824e-14 1 1 0 CDH4 1002 broad.mit.edu 37 20 60348093 60348093 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:60348093C>A ENST00000360469.5 + 4 519 c.431C>A c.(430-432)cCc>cAc p.P144H CDH4_ENST00000543233.1_Missense_Mutation_p.P70H NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 144 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCTCTGGACCCCTCTCCGCCT 0.597000 8 33 5.4927e-09 6.72452e-09 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62288374 62288374 + Silent SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:62288374G>C ENST00000378024.4 - 5 13789 c.13515C>G c.(13513-13515)ccC>ccG p.P4505P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4505 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTTAAACTTGGGACCTTTGA 0.423000 13 156 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325838 79325838 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:79325838G>T ENST00000428286.1 - 8 1475 c.275C>A c.(274-276)cCc>cAc p.P92H PRUNE2_ENST00000376718.3_Missense_Mutation_p.P451H Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 451 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTCTCCCACGGGGCTGTCGTC 0.597000 12 35 1.08611e-07 1.26459e-07 1 1 0 MYT1L 23040 broad.mit.edu 37 2 1926248 1926248 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:1926248C>A ENST00000399161.2 - 10 2040 c.1293G>T c.(1291-1293)ctG>ctT p.L431L MYT1L_ENST00000428368.2_Silent_p.L431L NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 431 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCAGCAGGGTCAGGTTCCCCT 0.552000 35 153 1.06647e-15 1.62906e-15 1 1 0 SALL4 57167 broad.mit.edu 37 20 50406961 50406961 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:50406961G>A ENST00000217086.4 - 2 2172 c.2061C>T c.(2059-2061)gtC>gtT p.V687V SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 687 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCTTTCGATGACATCATCAT 0.592000 16 61 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47819348 47819348 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:47819348C>T ENST00000378460.2 - 27 3318 c.3272G>A c.(3271-3273)cGc>cAc p.R1091H NUP160_ENST00000528071.1_Missense_Mutation_p.R977H|NUP160_ENST00000530326.1_Missense_Mutation_p.R977H NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1091 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GTAATTGTGGCGATAGATGTG 0.413000 23 86 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286285 48286285 + Missense_Mutation SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:48286285A>T ENST00000320048.1 + 1 873 c.873A>T c.(871-873)gaA>gaT p.E291D NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GGAATGCTGAAGTGAAAAATG 0.418000 29 62 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102918770 102918770 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:102918770G>T ENST00000359520.7 + 16 3672 c.3446G>T c.(3445-3447)tGc>tTc p.C1149F TECPR2_ENST00000558678.1_Missense_Mutation_p.C1149F NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1149 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 AAGGACCTGTGCAGCGTCAGC 0.642000 5 21 0.000602214 0.000624727 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25467574 25467574 + RNA SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:25467574C>T ENST00000453082.2 + 0 753 SNORD115-28_ENST00000363931.1_RNA NR_003343.1 ACACTTAGGCCGAACCTAGGT 0.512000 60 181 0 0 1 0 0 ZCRB1 85437 broad.mit.edu 37 12 42706924 42706924 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:42706924C>A ENST00000266529.3 - 8 782 c.599G>T c.(598-600)cGc>cTc p.R200L PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159L NM_033114.3 NP_149105.3 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 200 mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2) 8 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) TATCCTTGGGCGTCTTGAATC 0.353000 12 41 2.27111e-07 2.59e-07 1 1 0 IQCE 23288 broad.mit.edu 37 7 2638184 2638184 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:2638184G>T ENST00000402050.2 + 17 1710 c.1526G>T c.(1525-1527)cGg>cTg p.R509L IQCE_ENST00000438376.2_Missense_Mutation_p.R493L|IQCE_ENST00000325979.7_Missense_Mutation_p.R444L|IQCE_ENST00000404984.1_Missense_Mutation_p.R458L NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 509 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GGGCTCCCGCGGCCCCGCTCC 0.677000 39 95 9.8876e-21 1.63809e-20 1 1 0 ZNF407 55628 broad.mit.edu 37 18 72345996 72345996 + Silent SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr18:72345996C>T ENST00000299687.5 + 1 3021 c.3021C>T c.(3019-3021)tcC>tcT p.S1007S ZNF407_ENST00000577538.1_Silent_p.S1007S|ZNF407_ENST00000309902.6_Silent_p.S1007S|ZNF407_ENST00000582337.1_Silent_p.S1007S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1007 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ATGTGTACTCCCAGAGAGATG 0.453000 45 102 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52811641 52811641 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr3:52811641G>T ENST00000273283.2 + 1 34 c.10G>T c.(10-12)Gcc>Tcc p.A4S ITIH1_ENST00000542827.1_Missense_Mutation_p.A4S NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 4 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CATGGACGGTGCCATGGGGCC 0.557000 20 45 9.57634e-11 1.26545e-10 1 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23826100 23826100 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr4:23826100G>A ENST00000264867.2 - 6 908 c.789C>T c.(787-789)acC>acT p.T263T PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 263 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GTGACTCTGGGGTCAGAGGAA 0.338000 75 259 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23522916 23522916 + Silent SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:23522916G>C ENST00000296682.3 + 8 986 c.804G>C c.(802-804)ccG>ccC p.P268P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 268 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTGATCTGCCGCTGGGTCTGC 0.567000 HNSCC(3;0.000094) 26 80 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234238162 234238162 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:234238162C>A ENST00000409110.1 + 9 902 c.672C>A c.(670-672)atC>atA p.I224I SAG_ENST00000449594.2_Silent_p.I90I NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 224 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) GGGAGCCCATCCCTGTGACCG 0.443000 8 31 7.48243e-07 8.41773e-07 1 1 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654961 31654961 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr21:31654961G>T ENST00000340345.4 - 1 315 c.290C>A c.(289-291)tCc>tAc p.S97Y NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 97 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 TGCTGATGGGGAGTTGCAGGG 0.562000 19 79 1.15919e-05 1.2656e-05 1 1 0 OR5L2 26338 broad.mit.edu 37 11 55595330 55595330 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:55595330G>T ENST00000378397.1 + 1 636 c.636G>T c.(634-636)atG>atT p.M212I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TTACCATCATGATCATCCTCA 0.498000 HNSCC(27;0.073) 63 185 2.18419e-29 3.91041e-29 1 1 0 NCOR1 9611 broad.mit.edu 37 17 16055313 16055313 + Splice_Site SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:16055313C>T ENST00000268712.3 - 8 1047 c.e8-1 NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TATACAGTGGCTATAAAAGAA 0.308000 40 61 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89429822 89429822 + RNA SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:89429822G>A ENST00000532352.1 + 0 1859 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TAAGAATGATGAATGATCAAC 0.318000 10 45 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79270125 79270125 + Missense_Mutation SNP T T A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:79270125T>A ENST00000554719.1 + 6 1579 c.1088T>A c.(1087-1089)cTg>cAg p.L363Q NRXN3_ENST00000335750.5_Missense_Mutation_p.L363Q NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 141 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACCCTGCGTCTGGAGCTGGAT 0.552000 13 64 0 0 1 0 0 CXorf27 25763 broad.mit.edu 37 X 37850308 37850308 + Silent SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:37850308C>G ENST00000341016.3 + 1 239 c.216C>G c.(214-216)gcC>gcG p.A72A TM4SF2_ENST00000465127.1_Intron NM_012274.1 NP_036406.1 O75409 HYPM_HUMAN chromosome X open reading frame 27 72 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 GCTTGGAGGCCAGCAACAATG 0.517000 24 41 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308874 248308874 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:248308874G>T ENST00000366476.1 + 1 425 c.425G>T c.(424-426)gGa>gTa p.G142V NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AAAATTTGTGGACTTATGACT 0.468000 130 529 1.85467e-57 3.48929e-57 1 1 0 CYLC1 1538 broad.mit.edu 37 X 83129603 83129603 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chrX:83129603G>T ENST00000329312.4 + 4 1924 c.1887G>T c.(1885-1887)atG>atT p.M629I NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 629 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GGTGCAAGATGCCTCCTCCAC 0.408000 30 44 3.69857e-22 6.34857e-22 1 1 0 NEDD4L 23327 broad.mit.edu 37 18 56052803 56052803 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr18:56052803G>T ENST00000456986.1 + 26 2709 c.2109G>T c.(2107-2109)atG>atT p.M703I NEDD4L_ENST00000256832.7_Missense_Mutation_p.M684I|NEDD4L_ENST00000456173.2_Missense_Mutation_p.M683I|NEDD4L_ENST00000586263.1_Missense_Mutation_p.M796I|NEDD4L_ENST00000256830.9_Missense_Mutation_p.M720I|NEDD4L_ENST00000435432.2_Missense_Mutation_p.M683I|NEDD4L_ENST00000382850.4_Missense_Mutation_p.M804I|NEDD4L_ENST00000400345.3_Missense_Mutation_p.M824I|NEDD4L_ENST00000357895.5_Missense_Mutation_p.M816I|NEDD4L_ENST00000431212.2_Missense_Mutation_p.M703I|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.M760I NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 824 HECT. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGAAGCAGATGAACGCCTTCT 0.532000 21 73 1.22574e-08 1.47354e-08 1 1 0 LINC00207 388910 broad.mit.edu 37 22 44965251 44965251 + RNA SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr22:44965251G>T ENST00000605505.1 + 0 20 NR_028409.1 lung(3) 3 tcagatgggagggtgacctgg 0.532000 13 29 4.36969e-10 5.59657e-10 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65684551 65684551 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:65684551C>A ENST00000352385.2 - 11 2252 c.2043G>T c.(2041-2043)ggG>ggT p.G681G NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 681 Fibronectin type-III 3. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTCCACGGCCCCCTGGCAGGC 0.637000 21 52 9.57634e-11 1.26545e-10 1 1 0 TRBC2 28638 broad.mit.edu 37 7 142499005 142499005 + RNA SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:142499005C>A ENST00000466254.1 + 0 281 GCAACCACTTCCGCTGTCAAG 0.627000 12 118 6.40141e-05 6.83228e-05 1 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634938 70634938 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:70634938G>T ENST00000381269.2 - 2 955 c.202C>A c.(202-204)Cct>Act p.P68T SLC8A3_ENST00000356921.2_Missense_Mutation_p.P68T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P68T|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P68T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P68T NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 68 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCAAGGGAAGGGTTCTCCGGG 0.542000 20 58 1.2644e-06 1.41291e-06 1 1 0 SYT17 51760 broad.mit.edu 37 16 19194972 19194972 + Missense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:19194972G>C ENST00000562034.1 + 3 4069 c.271G>C c.(271-273)Gac>Cac p.D91H SYT17_ENST00000562711.2_Missense_Mutation_p.D148H|SYT17_ENST00000355377.2_Missense_Mutation_p.D152H|SYT17_ENST00000568115.1_Missense_Mutation_p.D91H Q9BSW7 SYT17_HUMAN synaptotagmin XVII 152 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 TAACCCCGACGACTATTTCAG 0.537000 18 116 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231050818 231050818 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:231050818C>T ENST00000258381.6 - 11 1248 c.1171G>A c.(1171-1173)Gtg>Atg p.V391M SP110_ENST00000258382.5_Missense_Mutation_p.V391M|SP110_ENST00000358662.4_Missense_Mutation_p.V391M|SP110_ENST00000338556.3_Missense_Mutation_p.V93M|SP110_ENST00000392048.3_Missense_Mutation_p.V389M|SP110_ENST00000540870.1_Missense_Mutation_p.V397M NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 391 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TTATCCACCACTTGGAGCTTC 0.507000 32 110 0 0 1 0 0 OR5M1 390168 broad.mit.edu 37 11 56380369 56380369 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr11:56380369C>A ENST00000526538.1 - 1 609 c.610G>T c.(610-612)Ggc>Tgc p.G204C NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AGATTAAAGCCTGCAACTACA 0.453000 25 73 1.55469e-16 2.40797e-16 1 1 0 MIR654 724024 broad.mit.edu 37 14 101506611 101506611 + RNA SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr14:101506611C>A ENST00000385199.1 + 0 56 NR_030390.1 TGCCATATGTCTGCTGACCAT 0.567000 6 8 0.0215528 0.0218148 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57828182 57828182 + Nonsense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:57828182C>T ENST00000371030.2 + 4 4177 c.4177C>T c.(4177-4179)Cga>Tga p.R1393* NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1393 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AATGGACAAACGAACTGTGAA 0.463000 29 115 0 0 1 0 0 HCCAT5 283902 broad.mit.edu 37 16 73126769 73126769 + RNA SNP A A T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:73126769A>T ENST00000569990.2 + 0 522 NR_027756.1 GGACAACAGTAAATCTGAGAG 0.522000 13 30 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992718 67992718 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr18:67992718G>T ENST00000397942.3 + 2 1130 c.814G>T c.(814-816)Gac>Tac p.D272Y SOCS6_ENST00000582322.1_Missense_Mutation_p.D272Y NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 272 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GGTAGACCAGGACCTAGTTGT 0.577000 41 122 9.14704e-12 1.25866e-11 1 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140763118 140763118 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140763118G>A ENST00000518325.1 + 1 652 c.652G>A c.(652-654)Ggc>Agc p.G218S PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGATGGCGGCGACCCGCC 0.602000 7 29 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52053913 52053913 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:52053913G>T ENST00000340057.1 + 3 336 c.291G>T c.(289-291)ttG>ttT p.L97F NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 97 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) GCCGCCACTTGGGCTGCATCA 0.567000 19 42 6.94344e-10 8.82506e-10 1 1 0 AGK 55750 broad.mit.edu 37 7 141349062 141349062 + Splice_Site SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:141349062G>T ENST00000355413.4 + 14 1235 c.e14-1 AGK_ENST00000473247.1_Splice_Site|AGK_ENST00000535825.1_Splice_Site NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) AACCTTTTTAGAGCAAAGAAG 0.373000 16 56 6.31663e-08 7.43264e-08 1 1 0 REP15 387849 broad.mit.edu 37 12 27849586 27849586 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:27849586G>T ENST00000310791.2 + 1 159 c.91G>T c.(91-93)Gca>Tca p.A31S RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA NM_001029874.1 NP_001025045.1 Q6BDI9 REP15_HUMAN RAB15 effector protein 31 early endosome membrane breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1) 9 Lung SC(9;0.0873) TATAGTCCATGCAGCTCAGAA 0.463000 17 43 1.5739e-10 2.07157e-10 1 1 0 MYH3 4621 broad.mit.edu 37 17 10538842 10538842 + Silent SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr17:10538842G>C ENST00000583535.1 - 30 4101 c.4014C>G c.(4012-4014)cgC>cgG p.R1338R MYH3_ENST00000226209.7_Silent_p.R1338R NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1338 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CACAGTCGTGGCGGGAGGACT 0.562000 46 75 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469211 72469211 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:72469211G>T ENST00000296776.5 + 1 190 c.141G>T c.(139-141)ctG>ctT p.L47L TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 47 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GCATCTTTCTGGGACTGGTGG 0.562000 60 160 1.19403e-26 2.10377e-26 1 1 0 C7orf55 154791 broad.mit.edu 37 7 139030421 139030421 + Nonsense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:139030421C>T ENST00000297534.6 + 2 566 c.313C>T c.(313-315)Cag>Tag p.Q105* C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Intron|C7orf55_ENST00000481123.1_3'UTR NM_197964.4 NP_932068.2 chromosome 7 open reading frame 55 breast(1)|lung(2) 3 GTTGCCCCATCAGCCTGGAGG 0.483000 11 32 0 0 1 0 0 NKX2-5 1482 broad.mit.edu 37 5 172659775 172659775 + Missense_Mutation SNP C C G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:172659775C>G ENST00000329198.4 - 2 1045 c.772G>C c.(772-774)Ggt>Cgt p.G258R NM_001166175.1|NM_001166176.1|NM_004387.3 NP_001159647.1|NP_001159648.1|NP_004378.1 P52952 NKX25_HUMAN NK2 homeobox 5 258 Ala/Pro-rich. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1) 12 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCGCCGTAACCCGGATAGGCG 0.701000 3 11 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127738467 127738467 + Splice_Site SNP T T G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:127738467T>G ENST00000336505.5 - 15 1385 c.e15-2 SCAI_ENST00000373549.4_Splice_Site NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TGTGAAATTCTGTAATATATA 0.338000 25 60 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121728133 121728133 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:121728133C>T ENST00000452319.1 + 7 1070 c.1010C>T c.(1009-1011)aCg>aTg p.T337M GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.T9M|GLI2_ENST00000361492.4_Missense_Mutation_p.T337M P10070 GLI2_HUMAN GLI family zinc finger 2 337 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) ATCAATGCCACGCCCACCCAG 0.627000 21 49 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508634 37508634 + Missense_Mutation SNP T T C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:37508634T>C ENST00000374660.1 + 40 4282 c.4183T>C c.(4183-4185)Tgg>Cgg p.W1395R ANKRD30A_ENST00000602533.1_Missense_Mutation_p.W1276R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.W1276R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1332 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CAAAAATATGTGGCTTCAACA 0.333000 13 52 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101540538 101540538 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:101540538G>A ENST00000353234.4 - 7 1584 c.1537C>T c.(1537-1539)Cct>Tct p.P513S ANKS6_ENST00000540940.1_Missense_Mutation_p.P318S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P212S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P513S Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 513 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GCCGCATCAGGGAGTGCAGAG 0.557000 13 53 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69726616 69726616 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr16:69726616A>G ENST00000349945.1 + 14 4158 c.2606A>G c.(2605-2607)aAt>aGt p.N869S NFAT5_ENST00000566899.1_Missense_Mutation_p.N869S|NFAT5_ENST00000432919.1_Missense_Mutation_p.N963S|NFAT5_ENST00000393742.2_Missense_Mutation_p.N869S|NFAT5_ENST00000354436.2_Missense_Mutation_p.N945S|NFAT5_ENST00000567239.1_Missense_Mutation_p.N962S NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 945 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTGTCTACCAATGAGGATATG 0.448000 31 99 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517005 140517005 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140517005C>A ENST00000231134.5 + 1 2206 c.1989C>A c.(1987-1989)gaC>gaA p.D663E NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 663 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.D663D(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGGTGGACGGCTTCTCCC 0.716000 38 131 1.06647e-15 1.62906e-15 1 1 0 ENKUR 219670 broad.mit.edu 37 10 25288332 25288332 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr10:25288332G>T ENST00000331161.4 - 2 440 c.221C>A c.(220-222)cCc>cAc p.P74H ENKUR_ENST00000376363.1_Missense_Mutation_p.P74H NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 74 cilium|flagellum calmodulin binding|SH3 domain binding endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 AAACCTACTGGGTGGTAGAGT 0.308000 21 66 7.45023e-12 1.03804e-11 1 1 0 HAVCR1 26762 broad.mit.edu 37 5 156456733 156456733 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:156456733A>G ENST00000425854.1 - 7 1604 c.1072T>C c.(1072-1074)Tgc>Cgc p.C358R HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.C358R Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 0 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCAAAGAGCACCACTGGGTC 0.408000 13 42 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25924083 25924083 + Nonsense_Mutation SNP G G C TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:25924083G>C ENST00000377850.3 - 3 604 c.80C>G c.(79-81)tCa>tGa p.S27* SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.S27*|SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.S27* O00624 NPT3_HUMAN solute carrier family 17, member 2 27 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GGTGAAGTTTGAGAAGTGCAT 0.483000 8 96 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47587708 47587708 + Silent SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr20:47587708G>A ENST00000371917.4 + 10 1242 c.1242G>A c.(1240-1242)gtG>gtA p.V414V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 414 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCCTCTCTGTGTTGCAAAATG 0.463000 37 126 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170011008 170011008 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:170011008G>T ENST00000263816.3 - 66 12542 c.12257C>A c.(12256-12258)gCt>gAt p.A4086D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4086 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATAATCAACAGCTTGGATATA 0.368000 25 97 2.36697e-06 2.63613e-06 1 1 0 ZP4 57829 broad.mit.edu 37 1 238048738 238048738 + Silent SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:238048738G>T ENST00000366570.4 - 8 1271 c.1113C>A c.(1111-1113)ccC>ccA p.P371P RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 371 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.P371P(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGTCAGTGCTGGGTGTTGCCC 0.537000 30 90 3.99451e-17 6.21575e-17 1 1 0 SLC35F3 148641 broad.mit.edu 37 1 234458973 234458973 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:234458973C>T ENST00000366618.3 + 8 1602 c.1457C>T c.(1456-1458)cCt>cTt p.P486L SLC35F3_ENST00000366617.3_Missense_Mutation_p.P417L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 417 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AGAGCCCGCCCTTCCTTCGCC 0.577000 OREG0014330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 44 0 0 1 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449152 89449152 + Silent SNP T T G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:89449152T>G ENST00000399794.2 - 3 1073 c.358A>C c.(358-360)Agg>Cgg p.R120R CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Silent_p.R120R NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 120 nucleotide binding|RNA binding GGAGGTCCCCTGGTTCCTCCA 0.507000 44 125 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33936593 33936593 + Missense_Mutation SNP A A G TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:33936593A>G ENST00000389232.4 + 28 3708 c.3638A>G c.(3637-3639)tAt>tGt p.Y1213C RYR3_ENST00000415757.3_Missense_Mutation_p.Y1213C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1213 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTCAAGTTTTATACCATGTGC 0.512000 5 22 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 5 6 --- --- --- --- USP1 7398 broad.mit.edu 37 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:62916272delA ENST00000339950.4 + 9 2793 c.1978delA c.(1978-1980)aafs p.K661fs USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 661 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AGTTTTGAACAAAAAAAATGT 0.373 8 93 --- --- --- --- AMY2B 280 broad.mit.edu 37 1 104116960 104116960 + Frame_Shift_Del DEL G G - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr1:104116960delG ENST00000361355.4 + 7 1439 c.823delG c.(823-825)cafs p.A275fs AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 275 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CAAGTATGGTGCAAAACTCGG 0.373 98 296 --- --- --- --- PDE1A 5136 broad.mit.edu 37 2 183050667 183050667 + Frame_Shift_Del DEL C C - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr2:183050667delC ENST00000435564.1 - 13 1716 c.1516delG c.(1516-1518)acfs p.D506fs PDE1A_ENST00000358139.2_Frame_Shift_Del_p.D506fs|PDE1A_ENST00000346717.4_Frame_Shift_Del_p.D472fs|PDE1A_ENST00000410103.1_Frame_Shift_Del_p.D506fs|PDE1A_ENST00000351439.5_Frame_Shift_Del_p.D490fs|PDE1A_ENST00000409365.1_Frame_Shift_Del_p.D490fs|PDE1A_ENST00000331935.6_Frame_Shift_Del_p.D506fs|PDE1A_ENST00000536095.1_Frame_Shift_Del_p.D402fs|PDE1A_ENST00000456212.1_Frame_Shift_Del_p.D506fs NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 506 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TGAATGATGTCCACCAGGTTG 0.468 24 79 --- --- --- --- PCDHB1 29930 broad.mit.edu 37 5 140432109 140432109 + Frame_Shift_Del DEL G G - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr5:140432109delG ENST00000306549.3 + 1 1131 c.1054delG c.(1054-1056)tgfs p.V352fs NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 352 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCTCCTCTGTGTCCAGCCC 0.527 26 97 --- --- --- --- HBS1L 10767 broad.mit.edu 37 6 135318589 135318589 + Frame_Shift_Del DEL C C - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr6:135318589delC ENST00000367837.5 - 6 951 c.745delG c.(745-747)cgfs p.A249fs HBS1L_ENST00000415177.2_Frame_Shift_Del_p.A184fs|HBS1L_ENST00000367826.2_Frame_Shift_Del_p.A207fs|HBS1L_ENST00000527578.1_Frame_Shift_Del_p.A85fs|HBS1L_ENST00000367824.4_Frame_Shift_Del_p.A85fs|HBS1L_ENST00000445176.2_Intron NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 249 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TCCAGTTCCGCCTTCACATCT 0.522 41 100 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6775132 6775133 + RNA INS - - T rs72390141 TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr7:6775132_6775133insT ENST00000486256.1 + 0 833 NR_002217.1 GGTCATGTAAGTTTTTTTTTTT 0.401 3 3 --- --- --- --- ASB6 140459 broad.mit.edu 37 9 132400638 132400638 + Frame_Shift_Del DEL G G - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr9:132400638delG ENST00000277458.4 - 6 862 c.697delC c.(697-699)agfs p.Q233fs ASB6_ENST00000277459.4_Frame_Shift_Del_p.P196fs|ASB6_ENST00000450050.2_Frame_Shift_Del_p.Q154fs NM_017873.3 NP_060343.1 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box containing 6 233 intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) TTGATCATCTGGGCCTCCTCT 0.617 15 81 --- --- --- --- ITGA5 3678 broad.mit.edu 37 12 54793692 54793692 + Frame_Shift_Del DEL C C - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr12:54793692delC ENST00000293379.4 - 26 2944 c.2683delG c.(2683-2685)aafs p.E895fs RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 895 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CTTGGAGCTTCCCGTTTTTGC 0.532 OREG0021897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 165 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C11F13A3-03AF-4572-9211-F733F8A33636 E9CD02AD-20B6-4C4D-A7B8-90748837C861 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- ---