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 EFEMP1 2202 broad.mit.edu 37 2 56108806 56108806 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:56108806C>T ENST00000394555.2 - 5 1016 c.581G>A c.(580-582)cGg>cAg p.R194Q EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194Q|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136Q NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 194 EGF-like 2; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAAGGATCCCCGTAAATTGAT 0.507000 23 50 0 0 0.00188189 0 0 ASPM 259266 broad.mit.edu 37 1 197094013 197094013 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:197094013G>A ENST00000367409.4 - 12 3411 c.3155C>T c.(3154-3156)gCg>gTg p.A1052V ASPM_ENST00000367408.1_Missense_Mutation_p.A302V|ASPM_ENST00000294732.7_Missense_Mutation_p.A1052V NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1052 CH 1. mitosis cytoplasm|nucleus calmodulin binding p.A1052V(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AAAAGCAAACGCTATTTTCCA 0.279000 46 174 0 0 0.000781405 0 0 GLOD4 51031 broad.mit.edu 37 17 680169 680169 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:680169A>G ENST00000301329.6 - 3 285 c.200T>C c.(199-201)tTt>tCt p.F67S GLOD4_ENST00000301328.5_Missense_Mutation_p.F82S|GLOD4_ENST00000536578.1_Missense_Mutation_p.F58S NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 82 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TTCTGCGACAAAATGATCATC 0.413000 9 45 0 0 0.00136819 0 0 TRMT13 54482 broad.mit.edu 37 1 100613462 100613462 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:100613462G>A ENST00000370141.2 + 10 836 c.830G>A c.(829-831)cGa>cAa p.R277Q NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) CTTGCATTACGATGTTTGGTT 0.328000 12 41 0 0 0.000219431 0 0 ATG9A 79065 broad.mit.edu 37 2 220087135 220087135 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:220087135G>A ENST00000409618.1 - 12 2325 c.1886C>T c.(1885-1887)tCc>tTc p.S629F ATG9A_ENST00000409422.1_Missense_Mutation_p.S568F|ATG9A_ENST00000396761.2_Missense_Mutation_p.S629F|ATG9A_ENST00000361242.4_Missense_Mutation_p.S629F Q7Z3C6 ATG9A_HUMAN autophagy related 9A 629 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCGGCAGGATGAGCCAGC 0.617000 8 56 0 0 0.000673444 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413718 26413718 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:26413718C>T ENST00000289361.6 + 10 1708 c.1340C>T c.(1339-1341)cCc>cTc p.P447L BTN3A1_ENST00000414912.2_Missense_Mutation_p.P395L NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 447 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CTAACTGAGCCCAGAACCAAC 0.473000 43 65 0 0 0.000589545 0 0 OR5H1 26341 broad.mit.edu 37 3 97852270 97852270 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:97852270C>T ENST00000354565.2 + 1 729 c.729C>T c.(727-729)gcC>gcT p.A243A RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CCTGTGGAGCCCATCTCTTCT 0.413000 31 57 0 0 0.00178596 0 0 SOX30 11063 broad.mit.edu 37 5 157065567 157065567 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:157065567G>A ENST00000265007.6 - 4 1892 c.1551C>T c.(1549-1551)tcC>tcT p.S517S SOX30_ENST00000519442.1_Silent_p.S212S|SOX30_ENST00000311371.5_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 517 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTCTGTTTGGGAAGGCCCAG 0.537000 4 15 0 0 0.00024832 0 0 OVCH1 341350 broad.mit.edu 37 12 29640716 29640716 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:29640716G>A ENST00000318184.5 - 7 801 c.802C>T c.(802-804)Ccc>Tcc p.P268S NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 268 Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) tttcttaCGGGAACTGAACCT 0.473000 9 2 0 0 0.000442599 0 0 TNRC6B 23112 broad.mit.edu 37 22 40718916 40718916 + Missense_Mutation SNP C C G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr22:40718916C>G ENST00000454349.2 + 23 5384 c.5173C>G c.(5173-5175)Cgc>Ggc p.R1725G TNRC6B_ENST00000301923.9_Missense_Mutation_p.R921G|TNRC6B_ENST00000402203.1_Missense_Mutation_p.R921G|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R1615G NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1725 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 TGAAGTCAGCCGCTTTCTGGC 0.567000 6 11 0 0 8.12818e-05 0 0 IL1B 3553 broad.mit.edu 37 2 113590272 113590272 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:113590272G>A ENST00000263341.2 - 5 643 c.433C>T c.(433-435)Ctc>Ttc p.L145F IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 145 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) TGGAGGTGGAGAGCTTTCAGT 0.498000 45 61 0 0 0.000781405 0 0 GCSAML 148823 broad.mit.edu 37 1 247712418 247712418 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:247712418C>T ENST00000366490.3 + 4 445 c.287C>T c.(286-288)tCc>tTc p.S96F GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron germinal center-associated, signaling and motility-like CATGCATTTTCCTCTTGGTGC 0.527000 7 26 0 0 8.12818e-05 0 0 OSMR 9180 broad.mit.edu 37 5 38921839 38921839 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:38921839G>A ENST00000274276.3 + 12 2110 c.1708G>A c.(1708-1710)Ggt>Agt p.G570S NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 570 Fibronectin type-III 3. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GGATGTGCTCGGTGATTTCCA 0.473000 10 55 0 0 0.000673444 0 0 EPHA8 2046 broad.mit.edu 37 1 22923821 22923821 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:22923821C>T ENST00000166244.3 + 10 1854 c.1782C>T c.(1780-1782)ttC>ttT p.F594F NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 594 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CACCTGTCTTCCTGCCTCTGC 0.657000 12 19 0 0 0.00136819 0 0 MECR 51102 broad.mit.edu 37 1 29533276 29533276 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:29533276G>A ENST00000373791.3 - 4 692 c.320C>T c.(319-321)cCa>cTa p.P107L MECR_ENST00000263702.6_Missense_Mutation_p.P183L|MECR_ENST00000489248.1_5'UTR NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 183 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) GTTCCTACCTGGCTGCAGTTG 0.587000 18 37 0 0 0.000958276 0 0 ZNF792 126375 broad.mit.edu 37 19 35449270 35449270 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:35449270G>A ENST00000404801.1 - 4 1875 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W ZNF792_ENST00000605484.1_Missense_Mutation_p.R430W NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGAAGTCTCCGATGGCTATTG 0.493000 17 31 0 0 0.000958276 0 0 CD1A 909 broad.mit.edu 37 1 158225031 158225031 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:158225031G>A ENST00000289429.5 + 2 749 c.216G>A c.(214-216)agG>agA p.R72R NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 72 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CCTGGTCCAGGGGAAACTTCA 0.488000 27 68 0 0 0.000409698 0 0 MYO1E 4643 broad.mit.edu 37 15 59548558 59548558 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:59548558G>A ENST00000288235.4 - 4 656 c.257C>T c.(256-258)cCa>cTa p.P86L MYO1E_ENST00000558814.1_5'UTR NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 86 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) ATAGATATGTGGTGGGTTTTC 0.313000 17 11 0 0 0.00121646 0 0 ABCA4 24 broad.mit.edu 37 1 94480120 94480120 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:94480120C>T ENST00000370225.3 - 38 5525 c.5439G>A c.(5437-5439)ttG>ttA p.L1813L ABCA4_ENST00000536513.1_Silent_p.L83L NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1813 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAAATAATTCCAAGATGAAGG 0.438000 77 88 0 0 0.000781405 0 0 SOX18 54345 broad.mit.edu 37 20 62680639 62680639 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:62680639G>A ENST00000340356.7 - 1 355 c.231C>T c.(229-231)cgC>cgT p.R77R NM_018419.2 NP_060889.1 P35713 SOX18_HUMAN SRY (sex determining region Y)-box 18 77 angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis nucleus transcription regulatory region DNA binding lung(3) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CTGCCGCCTGGCGTTCCCCGC 0.771000 5 10 0 0 0.000602214 0 0 SRD5A2 6716 broad.mit.edu 37 2 31754493 31754493 + RNA SNP G G A rs61748126 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:31754493G>A ENST00000405650.1 - 0 747 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) TCTCACCGAGGAAATTGGCTC 0.468000 7 22 0 0 0.000274275 0 0 BPIFA2 140683 broad.mit.edu 37 20 31761933 31761933 + Silent SNP C C T rs149183452 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:31761933C>T ENST00000253362.2 + 4 497 c.351C>T c.(349-351)atC>atT p.I117I BPIFA2_ENST00000354932.5_Silent_p.I117I Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 117 extracellular region lipid binding CTGAACCGATCGATGATGGCA 0.512000 9 33 0 0 0.000673444 0 0 GABRB2 2561 broad.mit.edu 37 5 160758087 160758087 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:160758087C>T ENST00000274547.2 - 9 1097 c.880G>A c.(880-882)Gaa>Aaa p.E294K GABRB2_ENST00000393959.1_Missense_Mutation_p.E294K|GABRB2_ENST00000353437.6_Missense_Mutation_p.E294K|GABRB2_ENST00000517547.1_Missense_Mutation_p.E134K|GABRB2_ENST00000517901.1_Missense_Mutation_p.E231K|GABRB2_ENST00000520240.1_Missense_Mutation_p.E294K NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 294 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGGAGAGTTTCCCGGAGGTGG 0.433000 57 80 0 0 0.000781405 0 0 KCND3 3752 broad.mit.edu 37 1 112524806 112524806 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:112524806C>T ENST00000369697.1 - 1 612 c.543G>A c.(541-543)ctG>ctA p.L181L KCND3_ENST00000302127.4_Silent_p.L181L|KCND3_ENST00000315987.2_Silent_p.L181L Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 181 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGACCAGGGCCAGCGTGCTGG 0.632000 10 13 0 0 0.000442599 0 0 MCTP2 55784 broad.mit.edu 37 15 95013671 95013671 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:95013671G>A ENST00000357742.4 + 20 2470 c.2470_splice c.e20+1 p.G824_splice MCTP2_ENST00000451018.3_Splice_Site_p.G769_splice NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 824 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTTAATCTGGGGTAAGTTTGG 0.408000 34 32 0 0 0.00058488 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 14 66 0 0 0.000422831 0 0 NEB 4703 broad.mit.edu 37 2 152422239 152422239 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:152422239C>T ENST00000427231.2 - 115 18454 c.18252G>A c.(18250-18252)atG>atA p.M6084I NEB_ENST00000409198.1_Missense_Mutation_p.M4383I|NEB_ENST00000603639.1_Missense_Mutation_p.M6084I|NEB_ENST00000397345.3_Missense_Mutation_p.M6084I|NEB_ENST00000172853.10_Missense_Mutation_p.M4383I|NEB_ENST00000604864.1_Missense_Mutation_p.M6084I NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 6078 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCTGACTCATCATTTCCTGGT 0.498000 5 7 0 0 0.00116845 0 0 FAM83C 128876 broad.mit.edu 37 20 33875213 33875213 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:33875213G>A ENST00000374408.3 - 4 1465 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 457 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGGGCACCCCGATGGAACTGG 0.647000 5 11 0 0 0.00116845 0 0 COL28A1 340267 broad.mit.edu 37 7 7472319 7472319 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:7472319G>A ENST00000399429.3 - 24 2013 c.1873C>T c.(1873-1875)Cct>Tct p.P625S NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 625 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGTCCCCGAGGGCCTTGGACA 0.473000 16 32 0 0 0.000958276 0 0 BLNK 29760 broad.mit.edu 37 10 97987287 97987287 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:97987287G>A ENST00000224337.5 - 5 381 c.240C>T c.(238-240)gaC>gaT p.D80D BLNK_ENST00000371176.2_Silent_p.D80D|BLNK_ENST00000427367.2_Silent_p.D80D|BLNK_ENST00000413476.2_Silent_p.D80D NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 80 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) ACATCTCTGAGTCCGAGTGCT 0.597000 18 51 0 0 0.000958276 0 0 SLC15A1 6564 broad.mit.edu 37 13 99354778 99354778 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:99354778C>T ENST00000376503.5 - 18 1477 c.1422G>A c.(1420-1422)aaG>aaA p.K474K NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 474 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TAAGACCATCCTTTACCTGAG 0.289000 18 92 0 0 0.00047179 0 0 SRM 6723 broad.mit.edu 37 1 11115859 11115859 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:11115859G>A ENST00000376957.2 - 6 824 c.744C>T c.(742-744)ttC>ttT p.F248F NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 248 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) TGCACAGCATGAAGCCGATCT 0.637000 4 3 0 0 0.00024832 0 0 NOTCH2 4853 broad.mit.edu 37 1 120466558 120466558 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:120466558C>T ENST00000256646.2 - 26 4780 c.4561G>A c.(4561-4563)Ggg>Agg p.G1521R NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1521 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTTGCACCCCTGGTCACAG 0.512000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 87 130 0 0 0.000781405 0 0 FBXW9 84261 broad.mit.edu 37 19 12807335 12807335 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:12807335C>T ENST00000380339.3 - 1 97 c.61G>A c.(61-63)Gag>Aag p.E21K FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.E21K|FBXW9_ENST00000587955.1_Missense_Mutation_p.E21K Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 21 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GTCTCTGACTCTGGGTCCGAG 0.672000 11 21 0 0 0.000673444 0 0 C10orf12 26148 broad.mit.edu 37 10 98744728 98744728 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:98744728C>T ENST00000286067.2 + 1 3688 c.3581C>T c.(3580-3582)tCt>tTt p.S1194F NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1194 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GGTGAATCCTCTTCAAGGCCT 0.502000 5 25 0 0 0.00116845 0 0 SOX7 83595 broad.mit.edu 37 8 10583598 10583598 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:10583598G>A ENST00000304501.1 - 2 895 c.817C>T c.(817-819)Cct>Tct p.P273S SOX7_ENST00000553390.1_Missense_Mutation_p.P325S|SOX7_ENST00000554914.1_Missense_Mutation_p.P325S NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 273 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCGGGTACAGGGGACATCATG 0.677000 12 30 0 0 0.000308642 0 0 DNAJC18 202052 broad.mit.edu 37 5 138761999 138761999 + Missense_Mutation SNP G G A rs143797552 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:138761999G>A ENST00000302060.5 - 4 501 c.421C>T c.(421-423)Cgc>Tgc p.R141C NM_152686.3 NP_689899.1 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 141 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCATCATAGCGAAGTCTCTTA 0.448000 11 57 0 0 0.000219431 0 0 TDRD1 56165 broad.mit.edu 37 10 115947899 115947899 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:115947899G>A ENST00000251864.2 + 2 462 c.309G>A c.(307-309)agG>agA p.R103R TDRD1_ENST00000369282.1_Silent_p.R103R|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Silent_p.R103R|TDRD1_ENST00000369281.2_Silent_p.R103R NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 103 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AAGGAGACAGGAAAAAATTGC 0.428000 20 48 0 0 0.00152264 0 0 MYO1F 4542 broad.mit.edu 37 19 8618261 8618261 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:8618261C>T ENST00000338257.8 - 5 654 c.387G>A c.(385-387)aaG>aaA p.K129K NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 129 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CGCCAGACACCTTGGAGATGT 0.547000 19 48 0 0 0.000295444 0 0 PDZD4 57595 broad.mit.edu 37 X 153069985 153069985 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:153069985G>A ENST00000164640.4 - 8 1324 c.1133C>T c.(1132-1134)cCc>cTc p.P378L PDZD4_ENST00000393758.2_Missense_Mutation_p.P303L|PDZD4_ENST00000544474.1_Missense_Mutation_p.P269L NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 378 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAGGCCCGGGGAAAGAGGAG 0.642000 9 3 0 0 0.000673444 0 0 TYW1 55253 broad.mit.edu 37 7 66532274 66532274 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:66532274C>T ENST00000359626.5 + 10 1322 c.1158C>T c.(1156-1158)tcC>tcT p.S386S NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 386 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) TGTCATAGTCCATGCTCCGAG 0.408000 15 49 0 0 0.000308642 0 0 PTPRR 5801 broad.mit.edu 37 12 71148001 71148001 + Missense_Mutation SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:71148001G>T ENST00000283228.2 - 5 1160 c.708C>A c.(706-708)agC>agA p.S236R PTPRR_ENST00000549308.1_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.S124R|PTPRR_ENST00000440835.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.S30R NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 236 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TAACAAAGATGCTGAGAAAAA 0.353000 19 9 1.64113e-05 0.000152154 0.00152264 1 0 NLRP2 55655 broad.mit.edu 37 19 55494681 55494681 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:55494681C>T ENST00000543010.1 + 6 1758 c.1615C>T c.(1615-1617)Ctt>Ttt p.L539F NLRP2_ENST00000391721.4_Missense_Mutation_p.L515F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L539F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L517F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L517F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L516F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L536F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L515F NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 539 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ACAGAAGCTGCTTTCCGGAGT 0.562000 21 25 0 0 0.00188189 0 0 ZNF33A 7581 broad.mit.edu 37 10 38299687 38299687 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:38299687G>A ENST00000432900.2 + 1 105 c.6G>A c.(4-6)gcG>gcA p.A2A ZNF33A_ENST00000374618.3_5'UTR|ZNF33A_ENST00000458705.2_5'UTR|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_5'UTR Q06730 ZN33A_HUMAN zinc finger protein 33A 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 TTTCTATGGCGAATGCAACCC 0.642000 11 15 0 0 0.000219431 0 0 SLC8B1 80024 broad.mit.edu 37 12 113748128 113748128 + Missense_Mutation SNP C C T rs142949596 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:113748128C>T ENST00000552014.1 - 13 1683 c.1168G>A c.(1168-1170)Gtc>Atc p.V390I SLC24A6_ENST00000202831.3_Missense_Mutation_p.V390I|SLC24A6_ENST00000546737.1_Missense_Mutation_p.V334I|SLC24A6_ENST00000553238.1_5'UTR Q6J4K2 NCKX6_HUMAN 390 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 ACGACCCAGACGGGAACGAGG 0.552000 12 33 0 0 0.00185496 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26885418 26885418 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:26885418C>T ENST00000374168.2 + 14 1359 c.1205C>T c.(1204-1206)tCg>tTg p.S402L RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S310L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S386L|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S310L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S391L|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S411L NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 402 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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 cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CCCCTGCACTCGGTGGTACAG 0.612000 11 18 0 0 0.00136819 0 0 FAT3 120114 broad.mit.edu 37 11 92085966 92085966 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:92085966G>A ENST00000298047.6 + 1 705 c.688G>A c.(688-690)Gaa>Aaa p.E230K FAT3_ENST00000541502.1_Missense_Mutation_p.E230K|FAT3_ENST00000409404.2_Missense_Mutation_p.E230K|FAT3_ENST00000525166.1_Missense_Mutation_p.E80K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 230 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTATGATCTGGAAATTTTGGC 0.393000 TCGA Ovarian(4;0.039) 186 149 0 0 0.000781405 0 0 COL3A1 1281 broad.mit.edu 37 2 189875503 189875503 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:189875503C>T ENST00000304636.3 + 50 4311 c.4141C>T c.(4141-4143)Cag>Tag p.Q1381* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q1078* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1381 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) ATACATGGATCAGGCCAGTGG 0.453000 8 24 0 0 0.000157383 0 0 OTOL1 131149 broad.mit.edu 37 3 161221562 161221562 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:161221562G>A ENST00000327928.4 + 4 1266 c.1266G>A c.(1264-1266)caG>caA p.Q422Q NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 422 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TCTATGGTCAGGAAATAGACC 0.478000 4 19 0 0 0.00024832 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84705531 84705531 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:84705531C>T ENST00000286744.5 + 29 4985 c.4761C>T c.(4759-4761)acC>acT p.T1587T ADAMTSL3_ENST00000567476.1_Silent_p.T1587T NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1587 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TCAGACCCACCTTAAGAAGGA 0.478000 5 9 0 0 0.00116845 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156629404 156629404 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:156629404G>A ENST00000296518.7 + 5 543 c.334G>A c.(334-336)Gaa>Aaa p.E112K GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E112K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E112K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E112K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E112K|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E112K Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 112 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTTGGAAAGAGAAGACTTTGA 0.279000 38 83 0 0 0.000680045 0 0 IFI27L1 122509 broad.mit.edu 37 14 94568857 94568857 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:94568857C>T ENST00000555523.1 + 5 477 c.258C>T c.(256-258)atC>atT p.I86I IFI27L1_ENST00000393115.3_Silent_p.I86I|IFI27L1_ENST00000554562.1_3'UTR|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557218.1_Silent_p.I32I|IFI27L1_ENST00000556381.1_3'UTR|IFI27L1_ENST00000553664.1_3'UTR|IFI27L1_ENST00000557066.1_Silent_p.I32I|IFI27L1_ENST00000554544.1_Silent_p.I21I NM_206949.2 NP_996832.1 Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 86 integral to membrane lung(2) 2 CTAAAGTTATCGGGGGCTTTG 0.597000 17 11 0 0 0.000958276 0 0 AGPAT9 84803 broad.mit.edu 37 4 84516026 84516026 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:84516026G>A ENST00000395226.2 + 8 985 c.767G>A c.(766-768)gGa>gAa p.G256E AGPAT9_ENST00000264409.4_Missense_Mutation_p.G256E NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 256 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GGCTTGATGGGAATTATTCAG 0.428000 64 123 0 0 0.000781405 0 0 FREM2 341640 broad.mit.edu 37 13 39264404 39264404 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:39264404G>A ENST00000280481.7 + 1 3139 c.2923G>A c.(2923-2925)Gaa>Aaa p.E975K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 975 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GACCAATGAGGAAACTGATGA 0.443000 18 68 0 0 0.00074312 0 0 MYO5B 4645 broad.mit.edu 37 18 47479662 47479662 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:47479662C>T ENST00000285039.7 - 14 2019 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 574 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ATCTGCTCTTCATACACCGTG 0.532000 20 51 0 0 0.00047179 0 0 CHD1 1105 broad.mit.edu 37 5 98228321 98228321 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:98228321G>A ENST00000284049.3 - 14 2237 c.2088C>T c.(2086-2088)cgC>cgT p.R696R NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 696 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) TCTTAACTCGGCGTAACAGAA 0.393000 35 65 0 0 0.00058488 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526075 68526075 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:68526075C>T ENST00000433211.1 - 9 1402 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K CTNNA3_ENST00000373744.4_Missense_Mutation_p.E410K|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 410 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TCTTTTATTTCCTTTTCCCGG 0.443000 33 52 0 0 0.000409698 0 0 CARD6 84674 broad.mit.edu 37 5 40843311 40843311 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:40843311C>T ENST00000254691.5 + 2 540 c.341C>T c.(340-342)tCa>tTa p.S114L CARD6_ENST00000381677.3_Missense_Mutation_p.S114L NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 114 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AGCAGTAATTCAGAAGATGCT 0.388000 32 38 0 0 0.000491102 0 0 USPL1 10208 broad.mit.edu 37 13 31233315 31233315 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:31233315C>T ENST00000255304.4 + 9 3443 c.3101C>T c.(3100-3102)cCa>cTa p.P1034L NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 1034 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AAGAAAAATCCATGTGAAGTT 0.408000 15 61 0 0 0.000219431 0 0 SLC2A12 154091 broad.mit.edu 37 6 134312437 134312437 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:134312437C>T ENST00000275230.5 - 5 1865 c.1710G>A c.(1708-1710)gtG>gtA p.V570V NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 570 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TGTTGTTTTTCACATAGTTCC 0.368000 27 24 0 0 0.00127121 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708970 96708970 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:96708970G>A ENST00000260682.6 + 5 760 c.748G>A c.(748-750)Gaa>Aaa p.E250K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 250 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) AAAAGTAAAAGAACACCAAGA 0.313000 11 41 0 0 0.000673444 0 0 GAPVD1 26130 broad.mit.edu 37 9 128094815 128094815 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:128094815C>T ENST00000470056.1 + 13 2495 c.2335C>T c.(2335-2337)Ccc>Tcc p.P779S GAPVD1_ENST00000394104.2_Missense_Mutation_p.P779S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P779S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P779S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P779S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P779S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P758S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P758S Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 779 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGAGGATATTCCCAATAAGAT 0.358000 44 35 0 0 0.000781405 0 0 CHODL 140578 broad.mit.edu 37 21 19632525 19632525 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr21:19632525C>T ENST00000299295.2 + 4 947 c.556C>T c.(556-558)Cca>Tca p.P186S CHODL_ENST00000400131.1_Missense_Mutation_p.P145S|CHODL_ENST00000400127.1_Missense_Mutation_p.P145S|CHODL_ENST00000400135.1_Missense_Mutation_p.P145S|CHODL_ENST00000543733.1_Missense_Mutation_p.P167S|CHODL_ENST00000400128.1_Missense_Mutation_p.P145S|CHODL_ENST00000338326.3_Missense_Mutation_p.P145S NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 186 muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) AGAGATTAATCCAACAGCCCC 0.289000 19 72 0 0 0.00152264 0 0 CHL1 10752 broad.mit.edu 37 3 432728 432728 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:432728G>A ENST00000256509.2 + 22 3319 c.2677G>A c.(2677-2679)Gga>Aga p.G893R CHL1_ENST00000397491.2_Missense_Mutation_p.G877R NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 877 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AAGAAACTCTGGAATGGTTCC 0.363000 15 25 0 0 0.000308642 0 0 RTL1 388015 broad.mit.edu 37 14 101348386 101348386 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:101348386C>T ENST00000534062.1 - 1 2798 c.2740G>A c.(2740-2742)Gag>Aag p.E914K NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 914 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TACTCAACCTCGATAGGGGAG 0.577000 7 5 0 0 8.12818e-05 0 0 AGMO 392636 broad.mit.edu 37 7 15427065 15427065 + Missense_Mutation SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:15427065T>C ENST00000342526.3 - 9 1092 c.923A>G c.(922-924)aAa>aGa p.K308R NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 308 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 AAGTCTTGGTTTACCTGGACC 0.428000 25 98 0 0 0.000878237 0 0 NDST4 64579 broad.mit.edu 37 4 115792005 115792005 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:115792005C>T ENST00000264363.2 - 7 2316 c.1638G>A c.(1636-1638)ctG>ctA p.L546L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 546 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTTGCAATTTCAGGTTGGTCC 0.443000 26 52 0 0 0.00106085 0 0 ABCC5 10057 broad.mit.edu 37 3 183699584 183699584 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:183699584C>T ENST00000334444.6 - 8 1318 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K ABCC5_ENST00000265586.6_Missense_Mutation_p.E360K|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 360 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTAAGAACTTCATTCATCTTC 0.408000 31 42 0 0 0.000409698 0 0 PPEF2 5470 broad.mit.edu 37 4 76788533 76788533 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:76788533C>T ENST00000286719.7 - 14 2045 c.1689G>A c.(1687-1689)agG>agA p.R563R NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 563 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) ACAGCTTCTCCCTCAGAGCTC 0.408000 16 28 0 0 0.000958276 0 0 TG 7038 broad.mit.edu 37 8 134108585 134108585 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:134108585G>A ENST00000220616.4 + 43 7580 c.7540G>A c.(7540-7542)Gac>Aac p.D2514N SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Missense_Mutation_p.D2457N|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.D884N|TG_ENST00000519543.1_Missense_Mutation_p.D647N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2514 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTCTCAGGACGACGGGCTCAT 0.562000 56 85 0 0 0.000781405 0 0 C2orf62 375307 broad.mit.edu 37 2 219229429 219229429 + Nonsense_Mutation SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:219229429G>T ENST00000289388.3 + 7 738 c.709G>T c.(709-711)Gag>Tag p.E237* C2orf62_ENST00000481940.1_Intron NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 237 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCCACGCGGAGGAGGGCAT 0.587000 12 35 3.07112e-06 2.85247e-05 0.000978159 1 0 TRIM29 23650 broad.mit.edu 37 11 120008004 120008004 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:120008004G>A ENST00000341846.5 - 1 1157 c.736C>T c.(736-738)Ctt>Ttt p.L246F NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 246 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AACATGCAAAGGTAGCAGATG 0.612000 31 34 0 0 0.00111076 0 0 CLDN4 1364 broad.mit.edu 37 7 73245737 73245737 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:73245737C>T ENST00000435050.1 + 2 2886 c.206C>T c.(205-207)tCg>tTg p.S69L CLDN4_ENST00000431918.1_Missense_Mutation_p.S69L|CLDN4_ENST00000340958.2_Missense_Mutation_p.S69L O14493 CLD4_HUMAN claudin 4 69 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) GTGTACGACTCGCTGCTGGCA 0.647000 16 29 0 0 0.000566183 0 0 MFHAS1 9258 broad.mit.edu 37 8 8654904 8654904 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:8654904G>A ENST00000276282.6 - 2 3682 c.3096C>T c.(3094-3096)ccC>ccT p.P1032P MFHAS1_ENST00000520091.1_5'UTR NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 1032 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CAGTCGGCGTGGGTGGGTAAA 0.567000 14 17 0 0 0.000308642 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401010 11401010 + Missense_Mutation SNP A A T rs74785727 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:11401010A>T ENST00000002596.5 - 2 1794 c.620T>A c.(619-621)tTc>tAc p.F207Y NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 207 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GCGCAGCGGGAAAAAGCGCAG 0.597000 16 22 0 0 0.000308642 0 0 TMEM165 55858 broad.mit.edu 37 4 56284107 56284107 + Missense_Mutation SNP G G C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:56284107G>C ENST00000381334.5 + 4 980 c.747G>C c.(745-747)tgG>tgC p.W249C TMEM165_ENST00000542052.1_Missense_Mutation_p.W186C|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron NM_018475.3 NP_060945.2 Q9HC07 TM165_HUMAN transmembrane protein 165 249 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) TAGCAGAATGGGGTGATCGCT 0.353000 12 46 0 0 0.00185496 0 0 MC5R 4161 broad.mit.edu 37 18 13826027 13826027 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:13826027C>T ENST00000324750.3 + 1 485 c.263C>T c.(262-264)tCc>tTc p.S88F NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 88 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GTGAGCATGTCCAGTGCCTGG 0.517000 17 42 0 0 0.00121646 0 0 FILIP1 27145 broad.mit.edu 37 6 76023724 76023724 + Silent SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:76023724T>C ENST00000393004.2 - 5 2045 c.1824A>G c.(1822-1824)agA>agG p.R608R FILIP1_ENST00000370020.1_Silent_p.R509R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.R608R Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 608 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTGTTATTTCTCTTTCCACTT 0.383000 72 120 0 0 0.000781405 0 0 GRM6 2916 broad.mit.edu 37 5 178417597 178417597 + Silent SNP G G A rs138201914 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:178417597G>A ENST00000231188.5 - 4 1186 c.1008C>T c.(1006-1008)atC>atT p.I336I GRM6_ENST00000517717.1_Silent_p.I336I NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 336 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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;0.245) ACTCACCGTCGATGGAGGCCC 0.617000 4 12 0 0 0.00116845 0 0 IQGAP2 10788 broad.mit.edu 37 5 75893356 75893356 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:75893356C>T ENST00000274364.6 + 10 1297 c.1000C>T c.(1000-1002)Cct>Tct p.P334S IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 334 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GGCCCAGCTGCCTGCTGTTTA 0.532000 17 26 0 0 0.000422831 0 0 MSI2 124540 broad.mit.edu 37 17 55752378 55752378 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:55752378C>T ENST00000284073.2 + 12 1045 c.836C>T c.(835-837)cCa>cTa p.P279L MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.P218L|MSI2_ENST00000416426.2_Missense_Mutation_p.P275L NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 279 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GCCAACAGCCCAGGACCTGTC 0.682000 T HOXA9 CML 35 92 0 0 0.000814825 0 0 TIE1 7075 broad.mit.edu 37 1 43777724 43777724 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:43777724C>T ENST00000372476.3 + 11 1631 c.1552C>T c.(1552-1554)Cgt>Tgt p.R518C TIE1_ENST00000433781.2_Missense_Mutation_p.R163C NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 518 Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATACAGTGTTCGTGTGCAGCT 0.602000 6 32 0 0 0.00116845 0 0 SGPL1 8879 broad.mit.edu 37 10 72631691 72631691 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:72631691C>T ENST00000373202.3 + 11 1207 c.1007C>T c.(1006-1008)cCa>cTa p.P336L NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 336 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) CTGGAGCACCCATTTGATTTC 0.458000 8 38 0 0 0.000274275 0 0 GABRB1 2560 broad.mit.edu 37 4 47408913 47408913 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:47408913G>A ENST00000295454.3 + 8 1342 c.1050G>A c.(1048-1050)gaG>gaA p.E350E GABRB1_ENST00000538619.1_Silent_p.E280E NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 350 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 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTGCCAATGAGAAGAATAAAC 0.393000 22 37 0 0 0.000295444 0 0 ESYT3 83850 broad.mit.edu 37 3 138174110 138174110 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:138174110C>T ENST00000389567.4 + 3 630 c.444C>T c.(442-444)atC>atT p.I148I ESYT3_ENST00000289135.4_Silent_p.I148I NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 148 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 AGCCCAAGATCCGAGAGAAGA 0.537000 75 80 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179522852 179522852 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:179522852C>T ENST00000589042.1 - 186 37968 c.37744G>A c.(37744-37746)Gaa>Aaa p.E12582K TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10834 Ig-like 83. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACGGGAATTTCTTTTTCTGCG 0.413000 35 45 0 0 0.000781405 0 0 SPTA1 6708 broad.mit.edu 37 1 158592976 158592976 + Missense_Mutation SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:158592976G>T ENST00000368148.3 - 43 6097 c.5917C>A c.(5917-5919)Ctg>Atg p.L1973M SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.L1970M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1973 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGGCATCCAGAGTGTCCTGA 0.463000 126 127 4.84861e-73 4.54457e-72 0.000781405 1 0 TMEM132A 54972 broad.mit.edu 37 11 60701119 60701119 + Missense_Mutation SNP C C G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:60701119C>G ENST00000005286.4 + 8 1618 c.1465C>G c.(1465-1467)Ctg>Gtg p.L489V TMEM132A_ENST00000453848.2_Missense_Mutation_p.L488V NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 488 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTCGCTGCGGCTGACCGTGTG 0.716000 8 5 0 0 0.000157383 0 0 HVCN1 84329 broad.mit.edu 37 12 111088040 111088040 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:111088040C>T ENST00000356742.5 - 6 1442 c.689G>A c.(688-690)aGg>aAg p.R230K HVCN1_ENST00000242607.8_Missense_Mutation_p.R230K|HVCN1_ENST00000439744.2_Missense_Mutation_p.R210K|HVCN1_ENST00000548312.1_Missense_Mutation_p.R230K Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 230 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 CTGTTTTAACCTTAAGAGTTG 0.438000 15 17 0 0 0.000566183 0 0 ASXL3 80816 broad.mit.edu 37 18 31319760 31319760 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:31319760A>T ENST00000269197.5 + 11 2392 c.2392A>T c.(2392-2394)Acc>Tcc p.T798S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 798 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 AGAGAACCTTACCTCCCAGCA 0.473000 12 22 0 0 0.00136819 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171836 102171836 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:102171836C>T ENST00000306176.1 + 3 328 c.228C>T c.(226-228)ttC>ttT p.F76F ZPLD1_ENST00000466937.1_Silent_p.F60F|ZPLD1_ENST00000491959.1_Silent_p.F60F NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 60 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CGGTACTTTTCTCGGGTTATT 0.403000 26 32 0 0 0.000878237 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891242 2891242 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:2891242G>A ENST00000254528.3 + 4 1276 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 373 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) AGGGGAGAAGGAAACAAGCCT 0.502000 19 37 0 0 0.000958276 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581034 40581034 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:40581034G>A ENST00000450241.2 - 6 1524 c.1213C>T c.(1213-1215)Cat>Tat p.H405Y ZNF780A_ENST00000594395.1_Missense_Mutation_p.H440Y|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H440Y|ZNF780A_ENST00000595687.2_Missense_Mutation_p.H439Y|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H439Y|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCATTGGAATGAATTTTCTGA 0.383000 27 130 0 0 0.00127121 0 0 LSR 51599 broad.mit.edu 37 19 35741251 35741251 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:35741251A>G ENST00000602122.1 + 2 774 c.287A>G c.(286-288)aAc>aGc p.N96S LSR_ENST00000347609.4_Missense_Mutation_p.N59S|LSR_ENST00000354900.3_Missense_Mutation_p.N96S|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Missense_Mutation_p.N96S|LSR_ENST00000427250.1_Missense_Mutation_p.N48S|LSR_ENST00000361790.3_Missense_Mutation_p.N96S Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 96 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACCGTGTCCAACCCCTACCAC 0.597000 30 145 0 0 0.00195071 0 0 CNTN5 53942 broad.mit.edu 37 11 100061917 100061917 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:100061917G>A ENST00000524871.1 + 14 1930 c.1640G>A c.(1639-1641)gGa>gAa p.G547E CNTN5_ENST00000279463.3_Missense_Mutation_p.G547E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G547E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G473E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.G547E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 547 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCAGACGAGGGAAAGTACGTT 0.383000 18 18 0 0 0.00121646 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594468 41594468 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:41594468G>A ENST00000330436.3 + 1 92 c.92G>A c.(91-93)gGg>gAg p.G31E NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 31 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AAGAGCAGGGGGAAGCTGCCT 0.582000 17 23 0 0 0.00074312 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2867270 2867270 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:2867270G>A ENST00000254695.8 + 7 490 c.400G>A c.(400-402)Gag>Aag p.E134K RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E115K|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E134K|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E119K|CTD-3060P21.1_ENST00000574885.1_RNA NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 134 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CTGTGAGGAGGAGGAAGAGGA 0.602000 7 22 0 0 8.12818e-05 0 0 REG1A 5967 broad.mit.edu 37 2 79349161 79349161 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:79349161C>T ENST00000233735.1 + 4 334 c.231C>T c.(229-231)acC>acT p.T77T NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 77 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CTGTGCTCACCCAGGCCGAGG 0.517000 34 34 0 0 0.000692331 0 0 SORCS3 22986 broad.mit.edu 37 10 107022168 107022168 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:107022168G>A ENST00000369701.3 + 26 3750 c.3523G>A c.(3523-3525)Gaa>Aaa p.E1175K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1175 integral to membrane neuropeptide receptor activity p.E1175K(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGCCAAAGTGAAAACGCCCC 0.507000 10 15 0 0 0.000442599 0 0 ZNF169 169841 broad.mit.edu 37 9 97062698 97062698 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:97062698G>A ENST00000395395.2 + 5 948 c.858G>A c.(856-858)ggG>ggA p.G286G ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 286 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) AGCACTCGGGGGAGAAGCCGT 0.557000 23 21 0 0 0.000375601 0 0 RYR2 6262 broad.mit.edu 37 1 237969462 237969462 + Missense_Mutation SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:237969462T>C ENST00000366574.2 + 99 14494 c.14177T>C c.(14176-14178)aTg>aCg p.M4726T RYR2_ENST00000360064.6_Missense_Mutation_p.M4732T|RYR2_ENST00000542537.1_Missense_Mutation_p.M4710T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4726 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCTGGTATATGACTATGTCT 0.398000 13 65 0 0 0.00185496 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169985 57169985 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:57169985G>A ENST00000371244.4 + 7 1196 c.1130G>A c.(1129-1131)aGc>aAc p.S377N NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 377 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ATAGCAGACAGCCCCAAAGCA 0.468000 16 39 0 0 0.000566183 0 0 KCNT2 343450 broad.mit.edu 37 1 196309670 196309670 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:196309670C>T ENST00000367433.5 - 16 1685 c.1584G>A c.(1582-1584)agG>agA p.R528R KCNT2_ENST00000367431.4_Silent_p.R478R|KCNT2_ENST00000451324.2_Silent_p.R139R|KCNT2_ENST00000294725.8_Silent_p.R528R|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 528 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TATTATCCTCCCTCCTAACAC 0.308000 15 55 0 0 0.000566183 0 0 PARVG 64098 broad.mit.edu 37 22 44579252 44579252 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr22:44579252G>A ENST00000422871.1 + 3 467 c.43G>A c.(43-45)Ggg>Agg p.G15R PARVG_ENST00000415224.1_Missense_Mutation_p.G15R|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000444313.2_Missense_Mutation_p.G15R|PARVG_ENST00000466375.2_Missense_Mutation_p.G15R NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 15 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) GCTCCCCAAGGGGGTGGAGCC 0.647000 12 17 0 0 0.000219431 0 0 TSPAN17 26262 broad.mit.edu 37 5 176083809 176083809 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:176083809C>T ENST00000298564.10 + 4 564 c.415C>T c.(415-417)Ctc>Ttc p.L139F TSPAN17_ENST00000503045.1_Missense_Mutation_p.L227F|TSPAN17_ENST00000405525.2_Missense_Mutation_p.L250F|TSPAN17_ENST00000508164.1_Missense_Mutation_p.L247F|TSPAN17_ENST00000515708.1_Missense_Mutation_p.L247F|TSPAN17_ENST00000310032.8_Missense_Mutation_p.L250F Q96FV3 TSN17_HUMAN tetraspanin 17 247 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCATCGCCCTCCTCCAGGT 0.622000 9 37 0 0 0.000442599 0 0 MAP3K11 4296 broad.mit.edu 37 11 65373427 65373427 + Nonsense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:65373427G>A ENST00000309100.3 - 7 2214 c.1729C>T c.(1729-1731)Cag>Tag p.Q577* MAP3K11_ENST00000530153.1_Nonsense_Mutation_p.Q320*|MAP3K11_ENST00000532507.1_5'UTR|MAP3K11_ENST00000534432.1_5'UTR NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 577 activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CTCCCATTCTGGGCTTCCCCA 0.617000 6 5 0 0 8.12818e-05 0 0 TINAG 27283 broad.mit.edu 37 6 54254602 54254602 + Missense_Mutation SNP C C T rs113922573 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:54254602C>T ENST00000259782.4 + 11 1406 c.1310C>T c.(1309-1311)tCc>tTc p.S437F NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 437 S -> F (in Ref. 2; AAF08931/AAF08932). cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GCTGCCAATTCCTGGGGAAAG 0.383000 54 65 0 0 0.000781405 0 0 FGD4 121512 broad.mit.edu 37 12 32755144 32755144 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:32755144C>T ENST00000427716.2 + 7 1310 c.886C>T c.(886-888)Ctt>Ttt p.L296F FGD4_ENST00000525053.1_Missense_Mutation_p.L408F|FGD4_ENST00000534526.2_Missense_Mutation_p.L433F|FGD4_ENST00000546442.1_Missense_Mutation_p.L203F|FGD4_ENST00000531134.1_Missense_Mutation_p.L381F|FGD4_ENST00000266482.3_Missense_Mutation_p.L48F|FGD4_ENST00000381025.3_Missense_Mutation_p.L48F NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 296 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GGCACCATTCCTTAAGATGTA 0.328000 51 53 0 0 0.000781405 0 0 CYYR1 116159 broad.mit.edu 37 21 27938585 27938585 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr21:27938585G>A ENST00000299340.4 - 2 519 c.176_splice c.e2+1 p.S59_splice CYYR1_ENST00000435845.2_Splice_Site_p.S167_splice|CYYR1_ENST00000400043.3_Splice_Site_p.S59_splice|AP001597.1_ENST00000357401.3_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 59 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GAATACTCACGAGAGGATATT 0.433000 6 18 0 0 8.12818e-05 0 0 SPTA1 6708 broad.mit.edu 37 1 158592977 158592977 + Silent SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:158592977A>G ENST00000368148.3 - 43 6096 c.5916T>C c.(5914-5916)acT>acC p.T1972T SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.T1969T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1972 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGGCATCCAGAGTGTCCTGAG 0.468000 121 125 0 0 0.000781405 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240876 26240876 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:26240876G>A ENST00000377745.2 + 1 316 c.223G>A c.(223-225)Gag>Aag p.E75K NM_003540.3 NP_003531.1 P62805 H4_HUMAN histone cluster 1, H4f 75 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) AACCTACACGGAGCACGCCAA 0.582000 10 26 0 0 0.000978159 0 0 PDE2A 5138 broad.mit.edu 37 11 72289953 72289953 + Silent SNP C C T rs143835725 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:72289953C>T ENST00000334456.5 - 28 2702 c.2457G>A c.(2455-2457)acG>acA p.T819T PDE2A_ENST00000376450.3_Silent_p.T563T|PDE2A_ENST00000444035.2_Silent_p.T810T|PDE2A_ENST00000544570.1_Silent_p.T812T|PDE2A_ENST00000418754.2_Silent_p.T704T|PDE2A_ENST00000540345.1_Silent_p.T810T NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 819 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CGATCTTTCTCGTAGTCTTCC 0.592000 105 67 0 0 0.000781405 0 0 PDE7B 27115 broad.mit.edu 37 6 136475307 136475307 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:136475307G>A ENST00000308191.6 + 7 876 c.573G>A c.(571-573)gaG>gaA p.E191E RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 191 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.E191D(1) breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) ACCTGAAAGAGCCAAAGGTAA 0.512000 4 14 0 0 0.00024832 0 0 IGFBP2 3485 broad.mit.edu 37 2 217526682 217526682 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:217526682C>T ENST00000233809.4 + 3 903 c.774C>T c.(772-774)atC>atT p.I258I IGFBP2_ENST00000456764.1_Silent_p.I114I NM_000597.2 NP_000588.2 P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 36kDa 258 Thyroglobulin type-1. positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway extracellular space insulin-like growth factor I binding|insulin-like growth factor II binding endometrium(2)|large_intestine(1)|lung(2) 5 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) CCCTGCACATCCCCAACTGTG 0.632000 16 26 0 0 0.000422831 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625542 140625542 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140625542G>A ENST00000231173.3 + 1 396 c.396G>A c.(394-396)gaG>gaA p.E132E NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 132 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTCTCCTGAGTTTCCTGAAA 0.433000 37 56 0 0 0.000781405 0 0 ZNF560 147741 broad.mit.edu 37 19 9585962 9585962 + Nonsense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:9585962G>A ENST00000301480.4 - 3 241 c.28C>T c.(28-30)Cag>Tag p.Q10* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CTGCATACCTGATAACAATTT 0.408000 10 16 0 0 0.00136819 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15880510 15880510 + RNA SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:15880510C>T ENST00000595525.1 + 0 529 CYP4F24P_ENST00000587443.2_RNA AGACCACTGGCTGTGGTGTCA 0.622000 7 15 0 0 8.12818e-05 0 0 CFB 629 broad.mit.edu 37 6 31915741 31915741 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:31915741G>A ENST00000556679.1 + 18 2341 c.2286G>A c.(2284-2286)aaG>aaA p.K762K CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Silent_p.K611K|CFB_ENST00000425368.2_Silent_p.K260K|CFB_ENST00000456570.1_Silent_p.K762K P00751 CFAB_HUMAN complement factor B 260 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGAAGCGGAAGATCGTCCTGG 0.552000 63 103 0 0 0.000781405 0 0 VPS13A 23230 broad.mit.edu 37 9 79843091 79843091 + Silent SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:79843091A>G ENST00000360280.3 + 17 1766 c.1506A>G c.(1504-1506)agA>agG p.R502R VPS13A_ENST00000376634.4_Silent_p.R502R|VPS13A_ENST00000357409.5_Silent_p.R502R|VPS13A_ENST00000376636.3_Silent_p.R502R NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 502 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TTGTTCTAAGAGAAAATCATC 0.289000 8 15 0 0 0.000673444 0 0 SRSF2 6427 broad.mit.edu 37 17 74733091 74733091 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:74733091G>A ENST00000392485.2 - 1 324 c.152C>T c.(151-153)aCc>aTc p.T51I MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_Missense_Mutation_p.T51I|SRSF2_ENST00000508921.3_Missense_Mutation_p.T51I|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 51 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GGACTCCTTGGTGTAGCGGTC 0.672000 Mis """MDS, CLL""" 4 14 0 0 0.000602214 0 0 ADAM7 8756 broad.mit.edu 37 8 24349461 24349461 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:24349461G>A ENST00000175238.6 + 14 1485 c.1402G>A c.(1402-1404)Gat>Aat p.D468N RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D240N|ADAM7_ENST00000380789.1_Missense_Mutation_p.D468N NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 468 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AGATGAATGTGATTTTCCTGA 0.443000 16 31 0 0 0.000308642 0 0 FAM129B 64855 broad.mit.edu 37 9 130279240 130279240 + Missense_Mutation SNP A A C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:130279240A>C ENST00000373312.3 - 8 1082 c.869T>G c.(868-870)gTg>gGg p.V290G FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.V277G NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 290 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CTTGGACAGCACCTCCTCGAA 0.607000 64 49 0 0 0.000781405 0 0 ATF7IP 55729 broad.mit.edu 37 12 14613792 14613792 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:14613792C>T ENST00000544627.1 + 9 2866 c.2546C>T c.(2545-2547)cCc>cTc p.P849L ATF7IP_ENST00000261168.4_Missense_Mutation_p.P841L|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P840L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P840L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P841L Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 841 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TTGCCAAATCCCACTAAACCA 0.468000 33 39 0 0 0.000953801 0 0 CDH8 1006 broad.mit.edu 37 16 61891121 61891121 + Missense_Mutation SNP G G C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:61891121G>C ENST00000577390.1 - 4 1523 c.569C>G c.(568-570)aCt>aGt p.T190S CDH8_ENST00000299345.6_Missense_Mutation_p.T190S|CDH8_ENST00000584337.1_Missense_Mutation_p.T190S|CDH8_ENST00000577730.1_Missense_Mutation_p.T190S NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 190 Cadherin 2. 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) GTCGGTCGCAGTGACGTTAGT 0.368000 10 36 0 0 0.000978159 0 0 SDK2 54549 broad.mit.edu 37 17 71429938 71429938 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:71429938A>T ENST00000392650.3 - 10 1245 c.1245T>A c.(1243-1245)gaT>gaA p.D415E SDK2_ENST00000388726.3_Missense_Mutation_p.D415E NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 415 Ig-like C2-type 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CTGACATGCCATCGATCACCG 0.592000 5 4 0 0 0.000157383 0 0 SLC6A2 6530 broad.mit.edu 37 16 55735810 55735810 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:55735810C>T ENST00000379906.2 + 13 2049 c.1794C>T c.(1792-1794)caC>caT p.H598H SLC6A2_ENST00000568943.1_Silent_p.H598H|SLC6A2_ENST00000219833.8_Silent_p.H598H|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000567238.1_Silent_p.H493H|SLC6A2_ENST00000414754.3_Silent_p.H542H|SLC6A2_ENST00000566163.1_Silent_p.H553H NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 598 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) AGAACGAGCACCACCTGGTGG 0.617000 OREG0023807 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 33 0 0 0.000673444 0 0 KCNK9 51305 broad.mit.edu 37 8 140630623 140630623 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:140630623C>T ENST00000520439.1 - 2 1066 c.1003G>A c.(1003-1005)Gag>Aag p.E335K KCNK9_ENST00000303015.1_Missense_Mutation_p.E335K Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 335 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GAGATCTCCTCGATCTTGTAA 0.552000 25 47 0 0 0.000878237 0 0 HVCN1 84329 broad.mit.edu 37 12 111088039 111088039 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:111088039C>T ENST00000356742.5 - 6 1443 c.690G>A c.(688-690)agG>agA p.R230R HVCN1_ENST00000242607.8_Silent_p.R230R|HVCN1_ENST00000439744.2_Silent_p.R210R|HVCN1_ENST00000548312.1_Silent_p.R230R Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 230 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 TCTGTTTTAACCTTAAGAGTT 0.443000 16 16 0 0 0.00074312 0 0 DSP 1832 broad.mit.edu 37 6 7585285 7585285 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:7585285C>T ENST00000379802.3 + 24 8131 c.7790C>T c.(7789-7791)tCc>tTc p.S2597F DSP_ENST00000418664.2_Missense_Mutation_p.S1998F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2597 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCACCATATCCAGCGTCAGG 0.473000 33 68 0 0 0.000814825 0 0 CPED1 79974 broad.mit.edu 37 7 120767263 120767263 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:120767263C>T ENST00000310396.5 + 10 1721 c.1254C>T c.(1252-1254)tcC>tcT p.S418S CPED1_ENST00000450913.2_Silent_p.S418S|CPED1_ENST00000423795.1_Silent_p.S198S NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 CATCACTTTCCATATTTTCTG 0.284000 11 61 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179612389 179612389 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:179612389C>T ENST00000360870.5 - 46 14960 c.14738G>A c.(14737-14739)gGa>gAa p.G4913E TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1036 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCACGCTTTCCAGCAGCAAG 0.418000 30 55 0 0 0.00111076 0 0 XIRP1 165904 broad.mit.edu 37 3 39229856 39229856 + Missense_Mutation SNP C C T rs145094629 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:39229856C>T ENST00000340369.3 - 2 1309 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E361K NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 361 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCAGCCTCTTCGTCCCCCTTC 0.587000 39 59 0 0 0.000437636 0 0 NPNT 255743 broad.mit.edu 37 4 106863484 106863484 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:106863484G>A ENST00000379987.2 + 8 1000 c.784G>A c.(784-786)Gaa>Aaa p.E262K NPNT_ENST00000305572.8_Missense_Mutation_p.E262K|NPNT_ENST00000453617.2_Missense_Mutation_p.E279K|NPNT_ENST00000506666.1_Missense_Mutation_p.E292K|NPNT_ENST00000427316.2_Missense_Mutation_p.E292K|NPNT_ENST00000514622.1_Missense_Mutation_p.E262K NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 262 cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AGTTATGATTGAACCTTCAGG 0.363000 17 33 0 0 0.000958276 0 0 TPTE 7179 broad.mit.edu 37 21 10944706 10944706 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr21:10944706G>A ENST00000298232.7 - 10 841 c.474C>T c.(472-474)taC>taT p.Y158Y TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.Y176Y|TPTE_ENST00000342420.5_Silent_p.Y138Y NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 176 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAAAAAATGTAAACGACAT 0.299000 26 253 0 0 0.000339439 0 0 VWA8 23078 broad.mit.edu 37 13 42161701 42161701 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:42161701C>T ENST00000379310.3 - 42 5286 c.5218G>A c.(5218-5220)Gag>Aag p.E1740K NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CACACAGCCTCCATTGTGCGC 0.498000 12 41 0 0 0.00136819 0 0 TOM1L1 10040 broad.mit.edu 37 17 53024634 53024634 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:53024634G>A ENST00000575882.1 + 12 1496 c.1143G>A c.(1141-1143)agG>agA p.R381R TOM1L1_ENST00000540336.1_Silent_p.R269R|TOM1L1_ENST00000348161.4_Silent_p.R304R|TOM1L1_ENST00000572158.1_Silent_p.R374R|TOM1L1_ENST00000445275.2_Silent_p.R381R|TOM1L1_ENST00000536554.1_Silent_p.R304R NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 381 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TTGCCCAAAGGACCAGCCAAA 0.373000 17 32 0 0 0.00188189 0 0 TRIM31 11074 broad.mit.edu 37 6 30079499 30079499 + Nonsense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:30079499G>A ENST00000376734.3 - 3 564 c.439C>T c.(439-441)Caa>Taa p.Q147* TRIM31_ENST00000540829.1_Nonsense_Mutation_p.Q147*|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 147 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TGCAAGACTTGGATCTGCTCT 0.507000 46 87 0 0 0.000781405 0 0 ABCA12 26154 broad.mit.edu 37 2 215910672 215910672 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:215910672G>A ENST00000272895.7 - 7 980 c.761C>T c.(760-762)tCa>tTa p.S254L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 254 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTGCACTTGTGAGAAGAAAGA 0.383000 20 36 0 0 0.00188189 0 0 AMPH 273 broad.mit.edu 37 7 38500904 38500904 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:38500904G>A ENST00000356264.2 - 11 1211 c.996C>T c.(994-996)atC>atT p.I332I AMPH_ENST00000428293.2_Silent_p.I332I|AMPH_ENST00000325590.5_Silent_p.I332I NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 332 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TTGTCACACTGATTTCTGGAA 0.507000 39 66 0 0 0.00170553 0 0 ZNF143 7702 broad.mit.edu 37 11 9519279 9519279 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:9519279C>T ENST00000396602.2 + 10 1018 c.899C>T c.(898-900)tCg>tTg p.S300L ZNF143_ENST00000530463.1_Missense_Mutation_p.S299L|ZNF143_ENST00000299606.2_Missense_Mutation_p.S272L|ZNF143_ENST00000396604.1_Missense_Mutation_p.S299L|ZNF143_ENST00000396597.3_Missense_Mutation_p.S269L NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 300 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) TATCGGTGTTCGGAAGATAAT 0.323000 18 15 0 0 0.00152264 0 0 NR1H4 9971 broad.mit.edu 37 12 100934528 100934528 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:100934528C>T ENST00000548884.1 + 9 1539 c.998C>T c.(997-999)gCt>gTt p.A333V NR1H4_ENST00000392986.3_Missense_Mutation_p.A337V|NR1H4_ENST00000549996.1_Missense_Mutation_p.A286V|NR1H4_ENST00000551379.1_Missense_Mutation_p.A347V|NR1H4_ENST00000188403.7_Missense_Mutation_p.A343V NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 347 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 CTTCGTTCAGCTGAGATTTTC 0.393000 36 36 0 0 0.000692331 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:115256529T>A ENST00000369535.4 - 3 435 c.182A>T c.(181-183)cAa>cTa p.Q61L NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 44 61 0 0 0.000781405 0 0 RNF175 285533 broad.mit.edu 37 4 154649400 154649400 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:154649400G>A ENST00000347063.4 - 4 732 c.360C>T c.(358-360)ctC>ctT p.L120L RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron NM_173662.2 NP_775933.1 Q8N4F7 RN175_HUMAN ring finger protein 175 120 integral to membrane zinc ion binding breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 13 all_hematologic(180;0.093) Renal(120;0.118) TAGCTCTGAAGAGGATGTAAC 0.438000 22 40 0 0 0.000375601 0 0 RELN 5649 broad.mit.edu 37 7 103207091 103207091 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:103207091C>T ENST00000424685.2 - 32 4863 c.4704G>A c.(4702-4704)gcG>gcA p.A1568A RELN_ENST00000343529.5_Silent_p.A1568A|RELN_ENST00000428762.1_Silent_p.A1568A P78509 RELN_HUMAN reelin 1568 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGGTGTCTTCGCGTCCTGTG 0.473000 8 47 0 0 0.000157383 0 0 KCNK2 3776 broad.mit.edu 37 1 215259778 215259778 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:215259778C>T ENST00000444842.2 + 2 264 c.114C>T c.(112-114)tcC>tcT p.S38S KCNK2_ENST00000391894.2_Silent_p.S23S|KCNK2_ENST00000391895.2_Silent_p.S34S NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 38 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TCTCGTTTTCCACGAAACCCA 0.512000 15 54 0 0 0.000422831 0 0 OR4K17 390436 broad.mit.edu 37 14 20586246 20586246 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:20586246G>A ENST00000315543.4 + 1 681 c.681G>A c.(679-681)caG>caA p.Q227Q NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATTTTGTACAGGTAGTCATTG 0.413000 56 39 0 0 0.000781405 0 0 KCNH5 27133 broad.mit.edu 37 14 63174630 63174630 + Nonsense_Mutation SNP T T A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:63174630T>A ENST00000322893.7 - 11 2831 c.2563A>T c.(2563-2565)Aaa>Taa p.K855* KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 855 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) AGTGGGTTTTTGGTCACACTG 0.458000 27 18 0 0 0.000878237 0 0 CNGA3 1261 broad.mit.edu 37 2 99012478 99012478 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:99012478C>T ENST00000393504.1 + 8 1262 c.845C>T c.(844-846)tCc>tTc p.S282F CNGA3_ENST00000272602.2_Missense_Mutation_p.S282F|CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F|CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 282 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CTGAAGTTTTCCCGGCTCTTT 0.488000 10 18 0 0 0.000442599 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373303 86373303 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:86373303G>A ENST00000604798.1 - 8 2405 c.1201C>T c.(1201-1203)Cgg>Tgg p.R401W MGAT4C_ENST00000393205.2_Missense_Mutation_p.R430W|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R401W|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R401W|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R401W|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R401W Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 401 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCATTTTGCCGATCTTCTGTT 0.348000 25 22 0 0 0.000586117 0 0 SGCZ 137868 broad.mit.edu 37 8 13948061 13948061 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:13948061C>T ENST00000382080.1 - 8 1545 c.830G>A c.(829-831)cGa>cAa p.R277Q SGCZ_ENST00000421524.2_Missense_Mutation_p.R230Q NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 264 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CACTGTCTGTCGAGAACTTGA 0.458000 34 59 0 0 0.00111076 0 0 HPGDS 27306 broad.mit.edu 37 4 95239087 95239087 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:95239087C>T ENST00000295256.5 - 3 253 c.163G>A c.(163-165)Gaa>Aaa p.E55K HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 55 GST N-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) CCATCAACTTCCAAAATGGGG 0.323000 16 51 0 0 0.00188189 0 0 ERGIC1 57222 broad.mit.edu 37 5 172341851 172341851 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:172341851C>T ENST00000326654.2 + 3 465 c.250C>T c.(250-252)Ccc>Tcc p.P84S ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 0 ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGTATGGAAGCCCTGCCTCAG 0.597000 6 11 0 0 0.00116845 0 0 CSMD1 64478 broad.mit.edu 37 8 3256922 3256922 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:3256922G>A ENST00000520002.1 - 17 2954 c.2399C>T c.(2398-2400)aCt>aTt p.T800I CSMD1_ENST00000400186.3_Missense_Mutation_p.T800I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T799I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T799I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T800I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T800I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T799I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 800 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTGTCAAAAGTTATTTTGAT 0.358000 29 79 0 0 0.00148497 0 0 F8 2157 broad.mit.edu 37 X 154159776 154159776 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:154159776C>T ENST00000360256.4 - 14 2489 c.2289G>A c.(2287-2289)caG>caA p.Q763Q NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 763 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTCTTGAATTCTGGGAGAAGC 0.408000 54 27 0 0 0.000781405 0 0 CHD6 84181 broad.mit.edu 37 20 40080585 40080585 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:40080585C>T ENST00000373233.3 - 22 3581 c.3404G>A c.(3403-3405)cGt>cAt p.R1135H CHD6_ENST00000309279.7_Missense_Mutation_p.R618H NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1135 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding p.R1135H(2) 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) CAGGAGGGCACGGCAAATCAT 0.517000 12 23 0 0 0.00136819 0 0 NFASC 23114 broad.mit.edu 37 1 204956614 204956614 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:204956614C>T ENST00000367172.4 + 24 3188 c.2860C>T c.(2860-2862)Cat>Tat p.H954Y NFASC_ENST00000401399.1_Missense_Mutation_p.H847Y|NFASC_ENST00000367170.4_Missense_Mutation_p.H954Y|NFASC_ENST00000338586.6_Missense_Mutation_p.H954Y|NFASC_ENST00000367169.4_Missense_Mutation_p.H847Y|NFASC_ENST00000339876.6_Missense_Mutation_p.H847Y|NFASC_ENST00000404076.1_Missense_Mutation_p.H933Y|NFASC_ENST00000360049.4_Missense_Mutation_p.H950Y|NFASC_ENST00000539706.1_Missense_Mutation_p.H950Y|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.H939Y|NFASC_ENST00000404907.1_Missense_Mutation_p.H950Y|NFASC_ENST00000513543.1_Missense_Mutation_p.H950Y|NFASC_ENST00000338515.6_Missense_Mutation_p.H954Y O94856 NFASC_HUMAN neurofascin 954 Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGAATGGGATCATCCTGAGCA 0.517000 24 36 0 0 0.000720815 0 0 MCF2L2 23101 broad.mit.edu 37 3 183056698 183056698 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:183056698G>A ENST00000328913.3 - 5 673 c.376C>T c.(376-378)Cca>Tca p.P126S MCF2L2_ENST00000473233.1_Missense_Mutation_p.P126S|MCF2L2_ENST00000447025.2_Missense_Mutation_p.P126S|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P126S NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 126 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AAGTTTCCTGGAAATGCCACC 0.418000 10 58 0 0 0.000978159 0 0 FLG2 388698 broad.mit.edu 37 1 152323507 152323507 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:152323507C>T ENST00000388718.5 - 3 6827 c.6755G>A c.(6754-6756)gGa>gAa p.G2252E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2252 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGCCAGATCCCCTTCTTCC 0.517000 83 187 0 0 0.000781405 0 0 CCDC77 84318 broad.mit.edu 37 12 542408 542408 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:542408C>T ENST00000239830.4 + 9 920 c.741C>T c.(739-741)atC>atT p.I247I CCDC77_ENST00000422000.1_Silent_p.I215I|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.I215I|CCDC77_ENST00000540180.1_Silent_p.I215I NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 247 centrosome p.I247I(1) cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) AAGGGCTCATCGAGGACAGAC 0.468000 34 33 0 0 0.00058488 0 0 MAP4 4134 broad.mit.edu 37 3 47957775 47957775 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:47957775C>T ENST00000426837.2 - 8 1680 c.1593G>A c.(1591-1593)atG>atA p.M531I MAP4_ENST00000360240.6_Missense_Mutation_p.M514I|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.M514I P27816 MAP4_HUMAN microtubule-associated protein 4 514 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGCCCAGAGCCATTTCTGTTT 0.502000 54 77 0 0 0.000781405 0 0 MSI2 124540 broad.mit.edu 37 17 55752377 55752377 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:55752377C>T ENST00000284073.2 + 12 1044 c.835C>T c.(835-837)Cca>Tca p.P279S MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.P218S|MSI2_ENST00000416426.2_Missense_Mutation_p.P275S NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 279 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GGCCAACAGCCCAGGACCTGT 0.677000 T HOXA9 CML 35 90 0 0 0.000814825 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928651 10928651 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:10928651C>T ENST00000283141.6 + 18 1752 c.1456C>T c.(1456-1458)Ccg>Tcg p.P486S SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 486 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) gccggtccctccgttcggggt 0.473000 17 25 0 0 0.000958276 0 0 KRT40 125115 broad.mit.edu 37 17 39138585 39138585 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:39138585G>A ENST00000377755.4 - 3 695 c.661C>T c.(661-663)Ctt>Ttt p.L221F KRT40_ENST00000398486.2_Missense_Mutation_p.L221F Q6A162 K1C40_HUMAN keratin 40 221 Coil 1B.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) TTAAGGCAAAGGAGATCTTCC 0.483000 11 38 0 0 0.000673444 0 0 DEFB118 117285 broad.mit.edu 37 20 29960927 29960927 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:29960927G>A ENST00000253381.2 + 2 359 c.326G>A c.(325-327)gGa>gAa p.G109E NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 109 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCTGAGGCGGGAAGGGGAACT 0.433000 10 24 0 0 0.000673444 0 0 DDX27 55661 broad.mit.edu 37 20 47853027 47853027 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:47853027A>G ENST00000371764.4 + 14 1769 c.1760A>G c.(1759-1761)aAg>aGg p.K587R DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 587 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCCCCTGTGAAGGCCAGGATA 0.597000 58 30 0 0 0.000781405 0 0 IGHA2 3494 broad.mit.edu 37 14 106054206 106054206 + RNA SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:106054206G>A ENST00000390539.2 - 0 312 GGGGGAGGTGGGGGAACTGGA 0.682000 5 5 0 0 8.12818e-05 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889196 23889196 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:23889196C>T ENST00000532292.1 - 1 1979 c.1885G>A c.(1885-1887)Gaa>Aaa p.E629K NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GTGTCAGGTTCATCCTCATCT 0.572000 14 11 0 0 0.000422831 0 0 HAUS5 23354 broad.mit.edu 37 19 36110399 36110399 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:36110399C>T ENST00000203166.5 + 14 1278 c.1253C>T c.(1252-1254)cCg>cTg p.P418L HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 418 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 TGCCGGAGCCCGGGGGAGGTG 0.642000 4 9 0 0 0.00024832 0 0 MRPS35 60488 broad.mit.edu 37 12 27869317 27869317 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:27869317C>T ENST00000081029.3 + 3 318 c.247C>T c.(247-249)Ctt>Ttt p.L83F MRPS35_ENST00000538315.1_Missense_Mutation_p.L83F NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 83 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) TGCAGTACCTCTTCCTGTTCG 0.458000 17 21 0 0 0.000958276 0 0 GJA10 84694 broad.mit.edu 37 6 90604254 90604254 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:90604254A>G ENST00000369352.1 + 1 67 c.67A>G c.(67-69)Aaa>Gaa p.K23E NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 23 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CATAGTGGGGAAAATCTGGCT 0.473000 38 39 0 0 0.00128727 0 0 MDN1 23195 broad.mit.edu 37 6 90390347 90390347 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:90390347G>A ENST00000369393.3 - 74 12341 c.12226C>T c.(12226-12228)Ccc>Tcc p.P4076S MDN1_ENST00000428876.1_Missense_Mutation_p.P4076S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4076 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CGAGGCAGGGGGCTCTCCTTC 0.597000 11 9 0 0 0.00185496 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 34 0 0 0.00024832 0 0 IRF6 3664 broad.mit.edu 37 1 209968740 209968740 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:209968740C>T ENST00000367021.3 - 5 575 c.403G>A c.(403-405)Gat>Aat p.D135N IRF6_ENST00000542854.1_Missense_Mutation_p.D40N NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 135 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TCCTTCTCATCCCAGGGAGCA 0.537000 HNSCC(57;0.16) 17 44 0 0 0.00074312 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31975170 31975170 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:31975170G>A ENST00000357886.4 - 6 867 c.714C>T c.(712-714)gtC>gtT p.V238V CDK5RAP1_ENST00000544843.1_Silent_p.V238V|CDK5RAP1_ENST00000346416.2_Silent_p.V238V|CDK5RAP1_ENST00000452723.3_Silent_p.V148V|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.V238V Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 238 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GGACTGGCATGACATCAGCAT 0.552000 11 31 0 0 0.00136819 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413719 26413719 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:26413719C>T ENST00000289361.6 + 10 1709 c.1341C>T c.(1339-1341)ccC>ccT p.P447P BTN3A1_ENST00000414912.2_Silent_p.P395P NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 447 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TAACTGAGCCCAGAACCAACC 0.478000 42 64 0 0 0.000509022 0 0 ABCA13 154664 broad.mit.edu 37 7 48314058 48314058 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:48314058C>T ENST00000435803.1 + 17 4819 c.4795C>T c.(4795-4797)Cac>Tac p.H1599Y NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1599 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTCCATTTATCACTTAGCTAG 0.343000 112 137 0 0 0.000781405 0 0 NDC80 10403 broad.mit.edu 37 18 2595414 2595414 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:2595414G>A ENST00000261597.4 + 11 1197 c.e11-1 NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 TTCCAACACAGAACTAGAATG 0.328000 19 47 0 0 0.00074312 0 0 TBC1D16 125058 broad.mit.edu 37 17 77915897 77915897 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:77915897G>A ENST00000310924.2 - 11 2132 c.2017C>T c.(2017-2019)Ctg>Ttg p.L673L TBC1D16_ENST00000576768.1_Silent_p.L298L|TBC1D16_ENST00000340848.7_Silent_p.L311L NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 673 intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TGCATGGCCAGGTTTCCGAAG 0.647000 7 18 0 0 8.12818e-05 0 0 HTR2C 3358 broad.mit.edu 37 X 114141364 114141364 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:114141364G>A ENST00000276198.1 + 6 1491 c.763G>A c.(763-765)Gaa>Aaa p.E255K HTR2C_ENST00000371950.3_Missense_Mutation_p.G223E|HTR2C_ENST00000371951.1_Missense_Mutation_p.E255K NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 255 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCACACCGAGGAACCGCCTGG 0.522000 77 28 0 0 0.000781405 0 0 ABCA13 154664 broad.mit.edu 37 7 48547545 48547545 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:48547545G>A ENST00000435803.1 + 50 13448 c.13424G>A c.(13423-13425)aGc>aAc p.S4475N ABCA13_ENST00000544596.1_Missense_Mutation_p.S205N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4475 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCCATCGGCAGCTCTGTGGTG 0.552000 5 24 0 0 0.000602214 0 0 GPR152 390212 broad.mit.edu 37 11 67219543 67219543 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:67219543G>A ENST00000312457.2 - 1 657 c.653C>T c.(652-654)aCa>aTa p.T218I NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 218 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCGACAGGCTGTGGCCTGGGT 0.667000 15 17 0 0 0.00074312 0 0 MAPK1IP1L 93487 broad.mit.edu 37 14 55529570 55529570 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:55529570C>T ENST00000395468.3 + 3 430 c.253C>T c.(253-255)Cca>Tca p.P85S MAPK1IP1L_ENST00000554364.1_3'UTR NM_144578.3 NP_653179.1 Q8NDC0 MISSL_HUMAN mitogen-activated protein kinase 1 interacting protein 1-like 85 Pro-rich. endometrium(2)|large_intestine(1)|lung(3) 6 TCCAGGACCCCCAGCACCCTT 0.627000 7 9 0 0 8.12818e-05 0 0 OR8K3 219473 broad.mit.edu 37 11 56085993 56085993 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:56085993C>T ENST00000312711.1 + 1 211 c.211C>T c.(211-213)Ctt>Ttt p.L71F NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTTCATGGATCTTGGTTATTC 0.383000 63 64 0 0 0.000781405 0 0 KCNB2 9312 broad.mit.edu 37 8 73850152 73850152 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:73850152C>T ENST00000523207.1 + 3 3150 c.2562C>T c.(2560-2562)tcC>tcT p.S854S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 854 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGGGCTCTTCCTCCCCGCAGG 0.502000 29 44 0 0 0.00106085 0 0 MYLK 4638 broad.mit.edu 37 3 123419461 123419461 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:123419461C>T ENST00000360772.3 - 19 3232 c.2854G>A c.(2854-2856)Gat>Aat p.D952N MYLK_ENST00000360304.3_Missense_Mutation_p.D952N|MYLK_ENST00000359169.1_Missense_Mutation_p.D952N|MYLK_ENST00000346322.5_Missense_Mutation_p.D883N|MYLK_ENST00000475616.1_Missense_Mutation_p.D952N Q15746 MYLK_HUMAN myosin light chain kinase 952 5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GAGCGAAAATCGACCTGCTGG 0.597000 7 33 0 0 8.12818e-05 0 0 EPS8 2059 broad.mit.edu 37 12 15811501 15811501 + Missense_Mutation SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:15811501C>A ENST00000281172.5 - 11 1392 c.956G>T c.(955-957)cGg>cTg p.R319L EPS8_ENST00000542903.1_Missense_Mutation_p.R59L|EPS8_ENST00000543612.1_Missense_Mutation_p.R319L|EPS8_ENST00000543523.1_Missense_Mutation_p.R319L|EPS8_ENST00000540613.1_Missense_Mutation_p.R59L NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 319 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity p.R319L(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) AGGTTTTGCCCGCAGCGTTAA 0.348000 8 141 0.000442599 0.00408131 0.000442599 1 0 TFEC 22797 broad.mit.edu 37 7 115590988 115590988 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:115590988C>T ENST00000265440.7 - 6 635 c.455G>A c.(454-456)aGg>aAg p.R152K TFEC_ENST00000320239.7_Missense_Mutation_p.R123K|TFEC_ENST00000393485.1_Missense_Mutation_p.R123K|TFEC_ENST00000484212.1_Missense_Mutation_p.R242K|TFEC_ENST00000457268.1_Missense_Mutation_p.R85K NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 152 Helix-loop-helix motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) AATATTATACCTTCTTCTTCT 0.274000 17 35 0 0 0.00074312 0 0 PEG3 5178 broad.mit.edu 37 19 57327768 57327768 + Missense_Mutation SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:57327768T>C ENST00000326441.9 - 10 2405 c.2042A>G c.(2041-2043)aAg>aGg p.K681R PEG3_ENST00000598410.1_Missense_Mutation_p.K557R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K555R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K681R|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 681 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAGCTTCTCCTTATTGTAAGT 0.428000 21 71 0 0 0.000375601 0 0 MEST 4232 broad.mit.edu 37 7 130143796 130143796 + Missense_Mutation SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:130143796G>T ENST00000223215.4 + 11 1070 c.849G>T c.(847-849)ttG>ttT p.L283F MEST_ENST00000437945.1_Intron|MEST_ENST00000393187.1_Missense_Mutation_p.L274F|MEST_ENST00000341441.4_Missense_Mutation_p.L274F|MEST_ENST00000416162.2_Missense_Mutation_p.L240F|MEST_ENST00000378576.4_Missense_Mutation_p.L240F NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 283 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) ATGGGCCATTGGATCCTGTAA 0.408000 13 386 0.00074312 0.0068157 0.00074312 1 0 L1TD1 54596 broad.mit.edu 37 1 62675553 62675553 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:62675553G>A ENST00000498273.1 + 4 1402 c.1107G>A c.(1105-1107)gaG>gaA p.E369E NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 369 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 CTAAGCCAGAGGAGATGAAAA 0.438000 60 76 0 0 0.000781405 0 0 LEPR 3953 broad.mit.edu 37 1 66062252 66062252 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:66062252G>A ENST00000349533.6 + 7 1010 c.825G>A c.(823-825)gaG>gaA p.E275E LEPR_ENST00000371060.3_Silent_p.E275E|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.E275E|LEPR_ENST00000371058.1_Silent_p.E275E|LEPR_ENST00000371059.3_Silent_p.E275E NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 275 Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AATATTCAGAGAATTCTACAA 0.338000 25 20 0 0 0.000878237 0 0 LCTL 197021 broad.mit.edu 37 15 66844489 66844489 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:66844489G>A ENST00000341509.5 - 10 1347 c.1216C>T c.(1216-1218)Ccc>Tcc p.P406S LCTL_ENST00000537670.1_Missense_Mutation_p.P233S NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 406 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.P406A(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACATATATGGGAGGATCACCG 0.358000 26 26 0 0 0.00178596 0 0 AGL 178 broad.mit.edu 37 1 100345591 100345591 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:100345591C>T ENST00000294724.4 + 13 2202 c.1724C>T c.(1723-1725)tCc>tTc p.S575F AGL_ENST00000370161.2_Missense_Mutation_p.S559F|AGL_ENST00000370163.3_Missense_Mutation_p.S575F|AGL_ENST00000370165.3_Missense_Mutation_p.S575F|AGL_ENST00000361915.3_Missense_Mutation_p.S575F|AGL_ENST00000361522.4_Missense_Mutation_p.S558F|AGL_ENST00000361302.3_Missense_Mutation_p.S559F NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 575 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGCATTAGTTCCTTAATAAGA 0.358000 23 109 0 0 0.000878237 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320843 128320843 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:128320843G>A ENST00000262462.4 + 2 1509 c.499G>A c.(499-501)Gaa>Aaa p.E167K SLC27A6_ENST00000395266.1_Missense_Mutation_p.E167K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E167K Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 167 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGGAACGGTAGAAGAAATCCT 0.388000 8 15 0 0 0.000442599 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716008 13716008 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:13716008G>A ENST00000279593.3 - 13 4373 c.4164C>T c.(4162-4164)atC>atT p.I1388I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1388 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAAAAGTGGGGATGAAAGGGT 0.622000 19 10 0 0 0.00074312 0 0 DSCAML1 57453 broad.mit.edu 37 11 117332272 117332272 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:117332272G>A ENST00000321322.6 - 18 3487 c.3486C>T c.(3484-3486)atC>atT p.I1162I DSCAML1_ENST00000527706.1_Silent_p.I892I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1102 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGTCAGAAGTGATGGACAGGG 0.607000 25 27 0 0 0.001512 0 0 MMP24 10893 broad.mit.edu 37 20 33842281 33842281 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:33842281G>A ENST00000246186.6 + 4 626 c.541G>A c.(541-543)Gag>Aag p.E181K MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 181 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) AAAAGTGGGTGAGCTAGACAC 0.488000 26 64 0 0 0.00106085 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750382 140750382 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140750382G>A ENST00000576222.1 + 1 552 c.421G>A c.(421-423)Gaa>Aaa p.E141K PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGAGCTGGAAATCAGCGA 0.468000 54 75 0 0 0.000781405 0 0 PCDHB17P 54661 broad.mit.edu 37 5 140537261 140537261 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140537261C>T ENST00000539533.1 + 1 1685 c.1685C>T c.(1684-1686)tCg>tTg p.S562L ACTCGCCCTTCGTGCTGTACC 0.711000 19 18 0 0 0.000375601 0 0 KRT38 8687 broad.mit.edu 37 17 39596778 39596778 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:39596778C>T ENST00000246646.3 - 1 395 c.396G>A c.(394-396)ctG>ctA p.L132L NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 132 Coil 1A.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GTGTGGCCTCCAGCTCCGCAT 0.592000 25 37 0 0 0.00106085 0 0 MROH2B 133558 broad.mit.edu 37 5 41038885 41038885 + Nonsense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:41038885G>A ENST00000399564.4 - 21 2617 c.2167C>T c.(2167-2169)Caa>Taa p.Q723* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q278* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATGATATCTTGATTAAGTCTG 0.483000 19 17 0 0 0.00121646 0 0 TENM1 10178 broad.mit.edu 37 X 123514833 123514833 + Missense_Mutation SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:123514833C>A ENST00000422452.2 - 32 7815 c.7752G>T c.(7750-7752)aaG>aaT p.K2584N STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.K2577N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GAGACCCAAGCTTAATGAAGT 0.498000 42 16 1.48646e-12 1.38818e-11 0.000509022 1 0 TGM5 9333 broad.mit.edu 37 15 43552268 43552268 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:43552268A>T ENST00000220420.5 - 3 425 c.418T>A c.(418-420)Ttc>Atc p.F140I TGM5_ENST00000349114.4_Intron NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 140 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CAGGGATTGAAAAGCAGGATG 0.597000 18 16 0 0 0.00152264 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769601 15769601 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:15769601C>T ENST00000221307.7 + 12 1427 c.1379C>T c.(1378-1380)cCc>cTc p.P460L CYP4F3_ENST00000585846.1_Missense_Mutation_p.P460L|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P460L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P460L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 460 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCTTTTATTCCCTTCTCAGCA 0.582000 9 65 0 0 0.000978159 0 0 SEC31B 25956 broad.mit.edu 37 10 102256030 102256030 + Silent SNP G G C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:102256030G>C ENST00000370345.3 - 18 2392 c.2295C>G c.(2293-2295)ccC>ccG p.P765P NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 765 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CACAGTCCCTGGGTAGAAAGC 0.552000 7 22 0 0 0.000157383 0 0 TOM1L1 10040 broad.mit.edu 37 17 53024633 53024633 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:53024633G>A ENST00000575882.1 + 12 1495 c.1142G>A c.(1141-1143)aGg>aAg p.R381K TOM1L1_ENST00000540336.1_Missense_Mutation_p.R269K|TOM1L1_ENST00000348161.4_Missense_Mutation_p.R304K|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R374K|TOM1L1_ENST00000445275.2_Missense_Mutation_p.R381K|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R304K NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 381 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TTTGCCCAAAGGACCAGCCAA 0.373000 17 32 0 0 0.00188189 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572238 76572238 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:76572238G>A ENST00000307431.8 + 20 3603 c.3218G>A c.(3217-3219)gGt>gAt p.G1073D CNTNAP4_ENST00000476707.1_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G1025D NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1074 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCCAAAAATGGTGAGTTCTTT 0.358000 46 45 0 0 0.000781405 0 0 MPP7 143098 broad.mit.edu 37 10 28378684 28378684 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:28378684C>T ENST00000337532.5 - 13 1315 c.1039G>A c.(1039-1041)Gac>Aac p.D347N MPP7_ENST00000445954.2_Missense_Mutation_p.D222N|MPP7_ENST00000540098.1_Missense_Mutation_p.D347N|MPP7_ENST00000375732.1_Missense_Mutation_p.D347N|MPP7_ENST00000375719.3_Missense_Mutation_p.D347N NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 347 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCAGCTGTGTCGTACTGATCA 0.368000 27 72 0 0 0.00127121 0 0 NEB 4703 broad.mit.edu 37 2 152426609 152426609 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:152426609C>T ENST00000427231.2 - 109 17618 c.17416G>A c.(17416-17418)Gaa>Aaa p.E5806K NEB_ENST00000409198.1_Missense_Mutation_p.E4105K|NEB_ENST00000603639.1_Missense_Mutation_p.E5806K|NEB_ENST00000397345.3_Missense_Mutation_p.E5806K|NEB_ENST00000172853.10_Missense_Mutation_p.E4105K|NEB_ENST00000604864.1_Missense_Mutation_p.E5806K NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5825 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCTGCAGTTCGTAGGCCTTC 0.512000 6 17 0 0 0.00116845 0 0 NT5C2 22978 broad.mit.edu 37 10 104860814 104860814 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:104860814G>A ENST00000343289.5 - 7 614 c.527C>T c.(526-528)cCc>cTc p.P176L NT5C2_ENST00000423468.2_Missense_Mutation_p.P147L|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.P176L NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 176 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) GGTATATCTGGGACAATTAGT 0.299000 15 39 0 0 0.000219431 0 0 RASGRF1 5923 broad.mit.edu 37 15 79298587 79298587 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:79298587G>A ENST00000419573.3 - 15 2329 c.2055C>T c.(2053-2055)atC>atT p.I685I RASGRF1_ENST00000558480.2_Silent_p.I672I|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 685 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCAGGACCACGATGGCGGTGG 0.602000 24 24 0 0 0.000586117 0 0 KCNC1 3746 broad.mit.edu 37 11 17794121 17794121 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:17794121G>A ENST00000379472.3 + 2 1510 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K KCNC1_ENST00000265969.6_Missense_Mutation_p.E494K NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 494 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GGCCCAGGAAGAAATTTTAGA 0.498000 34 26 0 0 0.00058488 0 0 BRIP1 83990 broad.mit.edu 37 17 59858249 59858249 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:59858249C>T ENST00000259008.2 - 12 2013 c.1746G>A c.(1744-1746)caG>caA p.Q582Q BRIP1_ENST00000577598.1_Silent_p.Q582Q NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 582 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTGCAGTTTTCTGTCGTGAAC 0.368000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 58 92 0 0 0.000781405 0 0 MIA3 375056 broad.mit.edu 37 1 222806471 222806471 + Silent SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:222806471T>C ENST00000344922.5 + 6 3382 c.3357T>C c.(3355-3357)ccT>ccC p.P1119P MIA3_ENST00000344441.6_Silent_p.P1119P|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1119 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AAGACACTCCTATGGATGCTA 0.398000 40 581 0 0 0.00128727 0 0 ERVW-1 30816 broad.mit.edu 37 7 92098132 92098132 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:92098132C>T ENST00000493463.2 - 1 2487 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K ERVW-1_ENST00000604270.1_5'UTR|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.E522K NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 522 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 gctgagatttcctcaggaggg 0.547000 45 54 0 0 0.000781405 0 0 OR4A15 81328 broad.mit.edu 37 11 55135946 55135946 + Missense_Mutation SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:55135946T>C ENST00000314706.3 + 1 587 c.587T>C c.(586-588)tTc>tCc p.F196S NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CAGCTCCCTTTCTGTGGACCC 0.428000 43 34 0 0 0.000437636 0 0 SOX30 11063 broad.mit.edu 37 5 157065568 157065568 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:157065568G>A ENST00000265007.6 - 4 1891 c.1550C>T c.(1549-1551)tCc>tTc p.S517F SOX30_ENST00000519442.1_Missense_Mutation_p.S212F|SOX30_ENST00000311371.5_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 517 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCTGTTTGGGAAGGCCCAGT 0.542000 4 15 0 0 0.00024832 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713587 70713587 + RNA SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:70713587C>T ENST00000530196.1 - 0 931 NR_003951.1 GAAAACATTTCCTTGATTCCA 0.378000 20 24 0 0 0.000958276 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444475 82444475 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:82444475G>A ENST00000268206.7 - 18 2488 c.2320C>T c.(2320-2322)Cgt>Tgt p.R774C EFTUD1_ENST00000359445.3_Missense_Mutation_p.R723C NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 774 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TCCATAGAACGAATCAAATCA 0.418000 25 25 0 0 0.000586117 0 0 CMYA5 202333 broad.mit.edu 37 5 79029915 79029915 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:79029915G>A ENST00000446378.2 + 2 5358 c.5327G>A c.(5326-5328)gGa>gAa p.G1776E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1776 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCACCAACTGGAAATTTGAAG 0.403000 33 47 0 0 0.00148497 0 0 RNF216 54476 broad.mit.edu 37 7 5780816 5780816 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:5780816C>T ENST00000425013.2 - 4 885 c.661G>A c.(661-663)Gaa>Aaa p.E221K RNF216_ENST00000389902.3_Missense_Mutation_p.E278K NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 221 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGCTGGGGTTCCGGCCTTGGA 0.547000 17 53 0 0 0.000958276 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160804147 160804147 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:160804147G>A ENST00000392781.2 - 8 1143 c.396C>T c.(394-396)tcC>tcT p.S132S B3GALNT1_ENST00000473285.1_Silent_p.S132S|B3GALNT1_ENST00000320474.4_Silent_p.S132S|B3GALNT1_ENST00000392779.2_Silent_p.S132S|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.S132S|B3GALNT1_ENST00000392780.1_Silent_p.S132S NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) 132 protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) CATCCTCTAAGGACAATGCCA 0.383000 33 45 0 0 0.000491102 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351124 40351124 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:40351124C>T ENST00000310169.2 + 4 730 c.591C>T c.(589-591)ttC>ttT p.F197F NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 197 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity p.F197F(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCTCTGACTTCATTGAAGATG 0.512000 39 85 0 0 0.00128727 0 0 MRAP2 112609 broad.mit.edu 37 6 84765131 84765131 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:84765131C>T ENST00000257776.4 + 2 229 c.94C>T c.(94-96)Cca>Tca p.P32S NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 32 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 TGAGATTGGACCAGTTTCCTT 0.393000 17 21 0 0 0.000958276 0 0 RANBP2 5903 broad.mit.edu 37 2 109382770 109382770 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:109382770G>A ENST00000283195.6 + 20 5901 c.5775G>A c.(5773-5775)caG>caA p.Q1925Q NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1925 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 TCCAGGCTCAGGATATTAGTG 0.413000 116 180 0 0 0.000781405 0 0 SNRNP200 23020 broad.mit.edu 37 2 96965144 96965144 + Missense_Mutation SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:96965144C>A ENST00000323853.5 - 6 729 c.652G>T c.(652-654)Ggg>Tgg p.G218W SNRNP200_ENST00000349783.5_Missense_Mutation_p.G218W NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 218 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CGAACCTCCCCGTATACGTCT 0.527000 5 57 0.000602214 0.00553325 0.000602214 1 0 SLC9C1 285335 broad.mit.edu 37 3 111888046 111888046 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:111888046C>T ENST00000305815.5 - 24 3301 c.3049G>A c.(3049-3051)Gag>Aag p.E1017K SLC9C1_ENST00000487372.1_Missense_Mutation_p.E969K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1017 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CTTCCTACCTCATAAGATAAG 0.323000 14 45 0 0 0.00074312 0 0 CCSER1 401145 broad.mit.edu 37 4 91229571 91229571 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:91229571C>T ENST00000509176.1 + 2 424 c.136C>T c.(136-138)Cct>Tct p.P46S CCSER1_ENST00000432775.2_Missense_Mutation_p.P46S|CCSER1_ENST00000333691.8_Missense_Mutation_p.P46S NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 CAGTTCCTCTCCTTCCAGCAC 0.458000 16 45 0 0 0.000958276 0 0 CYFIP2 26999 broad.mit.edu 37 5 156721794 156721794 + Translation_Start_Site SNP T T G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:156721794T>G ENST00000442283.2 + 0 348 CYFIP2_ENST00000347377.6_Missense_Mutation_p.N70K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.N70K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.N70K|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron NM_001037333.1 NP_001032410.1 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATTTCAGAATGAGATGCTGG 0.542000 68 118 0 0 0.000781405 0 0 GPR31 2853 broad.mit.edu 37 6 167570453 167570453 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:167570453G>A ENST00000366834.1 - 1 1364 c.867C>T c.(865-867)ttC>ttT p.F289F NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 289 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGGAGCTCCTGAAGGTGGGGC 0.592000 17 29 0 0 0.000566183 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80915340 80915340 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:80915340G>A ENST00000576599.1 - 9 1173 c.423C>T c.(421-423)ttC>ttT p.F141F B3GNTL1_ENST00000320865.3_Silent_p.F252F Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 252 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GCTCTTCCAGGAAGCGGACGC 0.672000 8 11 0 0 0.000157383 0 0 AKAP7 9465 broad.mit.edu 37 6 131520642 131520642 + Missense_Mutation SNP G G A rs34221901 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:131520642G>A ENST00000431975.2 + 6 729 c.631G>A c.(631-633)Gga>Aga p.G211R AKAP7_ENST00000368123.4_Missense_Mutation_p.G189R|AKAP7_ENST00000541650.1_Missense_Mutation_p.G210R NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) CATCCTGGTAGGAGAGAGCAG 0.373000 15 9 0 0 0.000958276 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735718 55735718 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:55735718C>T ENST00000312345.2 - 1 272 c.222G>A c.(220-222)atG>atA p.M74I NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TCCAAATGTCCATGAGCATTC 0.383000 33 29 0 0 0.00058488 0 0 PSG5 5673 broad.mit.edu 37 19 43689216 43689216 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:43689216C>T ENST00000404580.1 - 2 236 c.148G>A c.(148-150)Gat>Aat p.D50N PSG5_ENST00000342951.6_Missense_Mutation_p.D50N|PSG5_ENST00000407568.1_Missense_Mutation_p.D50N|PSG5_ENST00000407356.1_Missense_Mutation_p.D50N|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.D50N|PSG5_ENST00000366175.3_Missense_Mutation_p.D50N Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 50 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AGAAGAACATCCTTCCCCTCG 0.453000 42 99 0 0 0.000437636 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604058 111604058 + Silent SNP G G A rs145708919 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:111604058G>A ENST00000431670.2 + 2 1545 c.1134G>A c.(1132-1134)gcG>gcA p.A378A PHLDB2_ENST00000481953.1_Silent_p.A378A|PHLDB2_ENST00000478922.1_Silent_p.A378A|PHLDB2_ENST00000393923.3_Silent_p.A405A|PHLDB2_ENST00000393925.3_Silent_p.A378A|PHLDB2_ENST00000477695.1_Silent_p.A378A|PHLDB2_ENST00000412622.1_Silent_p.A378A NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 378 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAGTTTTTGCGACCAGGAGGA 0.527000 22 36 0 0 0.000878237 0 0 MR1 3140 broad.mit.edu 37 1 181018257 181018257 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:181018257C>T ENST00000367580.5 + 2 142 c.137C>T c.(136-138)tCg>tTg p.S46L MR1_ENST00000282990.6_Missense_Mutation_p.S46L|MR1_ENST00000434571.2_Missense_Mutation_p.S46L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.S46L NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 46 Alpha-1.|Ligand-binding. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity p.S46L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 GAATTTATTTCGGTTGGGTAC 0.547000 12 27 0 0 0.00136819 0 0 GADL1 339896 broad.mit.edu 37 3 30875357 30875357 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:30875357C>T ENST00000454381.3 - 11 1084 c.1038G>A c.(1036-1038)gtG>gtA p.V346V GADL1_ENST00000282538.5_Silent_p.V346V Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 346 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) ATTTGTCTTTCACAAGGAGAG 0.493000 23 50 0 0 0.000295444 0 0 PPP6C 5537 broad.mit.edu 37 9 127912094 127912094 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:127912094G>A ENST00000451402.1 - 8 1107 c.887C>T c.(886-888)cCt>cTt p.P296L PPP6C_ENST00000415905.1_Missense_Mutation_p.P237L|PPP6C_ENST00000373547.4_Missense_Mutation_p.P259L|PPP6C_ENST00000373546.3_Missense_Mutation_p.P112L NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 259 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GCAGTAATTAGGAGCAGACCA 0.388000 24 16 0 0 0.00047179 0 0 GORAB 92344 broad.mit.edu 37 1 170521409 170521409 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:170521409C>T ENST00000367763.3 + 5 1011 c.991C>T c.(991-993)Cgt>Tgt p.R331C NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 331 Necessary for interaction with RCHY1. Golgi apparatus|nucleus p.R331C(1) endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 ACCAGTGGTTCGTTTAGAGAG 0.453000 49 70 0 0 0.000781405 0 0 NLRP8 126205 broad.mit.edu 37 19 56459306 56459306 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:56459306C>T ENST00000291971.3 + 1 109 c.38C>T c.(37-39)cCc>cTc p.P13L NLRP8_ENST00000590542.1_Missense_Mutation_p.P13L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 13 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACCCCCATTCCCTTTTCATCC 0.498000 41 72 0 0 0.000781405 0 0 C6orf10 10665 broad.mit.edu 37 6 32304392 32304392 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:32304392G>A ENST00000375015.4 - 13 582 c.382_splice c.e13+1 p.P128_splice C6orf10_ENST00000527965.1_Splice_Site_p.P121_splice|C6orf10_ENST00000442822.2_Splice_Site_p.P121_splice|C6orf10_ENST00000375007.4_Splice_Site_p.P142_splice|C6orf10_ENST00000447241.2_Splice_Site_p.P144_splice|C6orf10_ENST00000533191.1_Splice_Site_p.P128_splice Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 144 P -> L (in dbSNP:rs1033500). integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGATACTTACGAATAGGGGCT 0.353000 12 26 0 0 0.000308642 0 0 ACSS3 79611 broad.mit.edu 37 12 81528708 81528708 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:81528708G>A ENST00000548058.1 + 3 1480 c.570G>A c.(568-570)agG>agA p.R190R ACSS3_ENST00000261206.3_Silent_p.R189R Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 190 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CATGTGCAAGGATAGGTGCCA 0.433000 23 22 0 0 0.000586117 0 0 HAPLN2 60484 broad.mit.edu 37 1 156593852 156593852 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:156593852G>A ENST00000255039.1 + 4 746 c.339G>A c.(337-339)ctG>ctA p.L113L NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 113 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACGCCTCCCTGGTCATCGCGG 0.682000 9 15 0 0 0.000673444 0 0 ADAM19 8728 broad.mit.edu 37 5 156917439 156917439 + Missense_Mutation SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:156917439C>A ENST00000257527.4 - 19 2197 c.2119G>T c.(2119-2121)Gtg>Ttg p.V707L ADAM19_ENST00000394020.1_Missense_Mutation_p.V709L|ADAM19_ENST00000430702.2_Missense_Mutation_p.V440L|ADAM19_ENST00000517905.1_Missense_Mutation_p.V707L NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 707 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCACCAACACTCCAGCTACC 0.512000 8 42 5.4927e-09 5.1202e-08 0.000274275 1 0 NLRP13 126204 broad.mit.edu 37 19 56416401 56416401 + Missense_Mutation SNP C C G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:56416401C>G ENST00000588751.1 - 8 2549 c.2525G>C c.(2524-2526)cGa>cCa p.R842P NLRP13_ENST00000342929.3_Missense_Mutation_p.R842P Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 842 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAGGCACAATCGAGTTACGTG 0.522000 16 26 0 0 0.000958276 0 0 ZNF397 84307 broad.mit.edu 37 18 32825358 32825358 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:32825358C>T ENST00000330501.7 + 4 842 c.689C>T c.(688-690)aCa>aTa p.T230I ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 230 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 GGAAGTGCTACAGGGGAGAAA 0.438000 7 6 0 0 8.12818e-05 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181133 140181133 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140181133C>T ENST00000522353.2 + 1 351 c.351C>T c.(349-351)ttC>ttT p.F117F PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F117F|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGAGG 0.537000 30 94 0 0 0.001512 0 0 SAMD10 140700 broad.mit.edu 37 20 62608326 62608326 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:62608326G>A ENST00000369886.3 - 3 617 c.443C>T c.(442-444)aCc>aTc p.T148I ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron NM_080621.4 NP_542188.1 Q9BYL1 SAM10_HUMAN sterile alpha motif domain containing 10 148 SAM. kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 7 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CACTGTACCGGTGATGGCATG 0.587000 6 25 0 0 8.12818e-05 0 0 TLR9 54106 broad.mit.edu 37 3 52256890 52256890 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:52256890C>T ENST00000597542.1 - 9 2471 c.1514G>A c.(1513-1515)cGg>cAg p.R505Q TLR9_ENST00000494383.1_Silent_p.T634T|TLR9_ENST00000360658.2_Missense_Mutation_p.R481Q Q9NR96 TLR9_HUMAN toll-like receptor 9 481 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity p.R481L(1) endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CAGGTTGTTCCGTGACAGATC 0.617000 31 33 0 0 0.000339439 0 0 OR13A1 79290 broad.mit.edu 37 10 45799503 45799503 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:45799503G>A ENST00000553795.1 - 4 676 c.368C>T c.(367-369)aCg>aTg p.T123M OR13A1_ENST00000374401.2_Missense_Mutation_p.T123M|OR13A1_ENST00000536058.1_Missense_Mutation_p.T123M NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TGCAGCCCACGTGAGGAAATA 0.597000 6 8 0 0 8.12818e-05 0 0 EVX1 2128 broad.mit.edu 37 7 27285648 27285648 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:27285648C>T ENST00000496902.4 + 3 1314 c.828C>T c.(826-828)caC>caT p.H276H EVX1_ENST00000535619.1_Silent_p.H94H|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR P49640 EVX1_HUMAN even-skipped homeobox 1 276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 TCCCATCGCACCTGCCCCTGC 0.741000 4 11 0 0 0.000602214 0 0 MRVI1 10335 broad.mit.edu 37 11 10647940 10647940 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:10647940C>T ENST00000547195.1 - 8 1168 c.668G>A c.(667-669)gGg>gAg p.G223E MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.G306E|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.G223E|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.G287E|MRVI1_ENST00000421747.1_Missense_Mutation_p.G305E|MRVI1_ENST00000423302.2_Missense_Mutation_p.G314E|MRVI1_ENST00000552103.1_Missense_Mutation_p.G223E NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 287 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GGCCATTTTCCCACTGCTGTT 0.562000 10 5 0 0 0.000978159 0 0 CASP3 836 broad.mit.edu 37 4 185552963 185552963 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:185552963G>A ENST00000308394.4 - 6 701 c.439C>T c.(439-441)Cgt>Tgt p.R147C CASP3_ENST00000517513.1_Missense_Mutation_p.R147C|CASP3_ENST00000523916.1_Missense_Mutation_p.R147C|CASP3_ENST00000393585.2_Missense_Mutation_p.R147C|CASP3_ENST00000393588.4_Missense_Mutation_p.R147C NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 147 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) CTTCTACAACGATCCCCTCTG 0.363000 25 70 0 0 0.000375601 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173257 207173257 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:207173257C>T ENST00000374423.3 + 5 4391 c.4005C>T c.(4003-4005)atC>atT p.I1335I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1335 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTCAAATATCCCTCTTCAGT 0.383000 26 54 0 0 0.00047179 0 0 CLCN1 1180 broad.mit.edu 37 7 143039050 143039050 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:143039050C>T ENST00000343257.2 + 15 1698 c.1611C>T c.(1609-1611)tcC>tcT p.S537S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 537 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTGCCGTTTCCCACACAGTCT 0.527000 13 28 0 0 0.000219431 0 0 VWA3A 146177 broad.mit.edu 37 16 22130236 22130236 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:22130236G>A ENST00000389398.5 + 12 1100 c.1004G>A c.(1003-1005)cGg>cAg p.R335Q VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 335 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) TACACCAGCCGGGACATGGAT 0.607000 10 24 0 0 0.00136819 0 0 LARP1 23367 broad.mit.edu 37 5 154185511 154185511 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:154185511C>T ENST00000336314.4 + 15 2410 c.2386C>T c.(2386-2388)Cag>Tag p.Q796* NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 873 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCCAAGTTCCAGCATCCTTC 0.507000 26 84 0 0 0.000878237 0 0 OSGIN2 734 broad.mit.edu 37 8 90937327 90937327 + Missense_Mutation SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:90937327C>A ENST00000451899.2 + 6 1477 c.1217C>A c.(1216-1218)aCt>aAt p.T406N OSGIN2_ENST00000297438.2_Missense_Mutation_p.T362N NM_001126111.1 NP_001119583.1 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family member 2 362 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATGATGTGTACTCAGTCATAT 0.383000 57 83 9.86064e-34 9.22546e-33 0.000781405 1 0 PREX2 80243 broad.mit.edu 37 8 69104700 69104700 + Missense_Mutation SNP C C T rs149428879 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:69104700C>T ENST00000288368.4 + 37 4821 c.4544C>T c.(4543-4545)tCg>tTg p.S1515L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1515 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCAGTTTCCTCGGAGCTGTGC 0.562000 10 10 0 0 0.00136819 0 0 LRFN2 57497 broad.mit.edu 37 6 40400396 40400396 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:40400396C>T ENST00000338305.6 - 2 999 c.457G>A c.(457-459)Gat>Aat p.D153N NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 153 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGTCCAGATCCTCCAATGTC 0.597000 18 34 0 0 0.00121646 0 0 BAI2 576 broad.mit.edu 37 1 32207322 32207322 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:32207322G>A ENST00000373658.3 - 10 1931 c.1590C>T c.(1588-1590)ttC>ttT p.F530F BAI2_ENST00000398542.1_Silent_p.F463F|BAI2_ENST00000398547.1_Silent_p.F463F|BAI2_ENST00000398556.3_Silent_p.F478F|BAI2_ENST00000440175.2_Silent_p.F172F|BAI2_ENST00000257070.4_Silent_p.F530F|BAI2_ENST00000527361.1_Silent_p.F530F|BAI2_ENST00000398538.1_Silent_p.F518F|BAI2_ENST00000373655.2_Silent_p.F530F NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 530 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) ACATCTCATGGAAGGCTGTGG 0.577000 4 30 0 0 0.000602214 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085114 35085114 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:35085114G>A ENST00000601241.1 - 3 2312 c.212C>T c.(211-213)tCc>tTc p.S71F SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.S71F Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 71 extracellular region binding p.S71Y(1) TTCTGTCACGGAGACATTGGC 0.547000 24 41 0 0 0.00127121 0 0 C20orf96 140680 broad.mit.edu 37 20 264671 264671 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:264671G>A ENST00000360321.2 - 4 377 c.239C>T c.(238-240)cCa>cTa p.P80L C20orf96_ENST00000400269.3_Missense_Mutation_p.P22L|C20orf96_ENST00000382369.5_Missense_Mutation_p.P45L NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 80 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) TAGTTCTCTTGGATTCTTCGG 0.537000 11 30 0 0 0.000978159 0 0 WDR60 55112 broad.mit.edu 37 7 158672385 158672385 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:158672385G>A ENST00000407559.3 + 5 742 c.584G>A c.(583-585)gGa>gAa p.G195E NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 195 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CTGCAGTACGGAGACAGCAAG 0.517000 20 14 0 0 0.00188189 0 0 OFCC1 266553 broad.mit.edu 37 6 9897184 9897184 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:9897184C>T ENST00000316020.6 - 7 763 c.764G>A c.(763-765)tGg>tAg p.W255* OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) CAAGAGTATCcatggatgact 0.403000 10 16 0 0 0.000673444 0 0 TMEM38B 55151 broad.mit.edu 37 9 108536291 108536291 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:108536291C>T ENST00000374688.1 + 6 1354 c.644C>T c.(643-645)tCa>tTa p.S215L TMEM38B_ENST00000374692.3_Missense_Mutation_p.S269L Q9NVV0 TM38B_HUMAN transmembrane protein 38B 269 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 GGCGTTGGGTCATTGGCCTCA 0.408000 37 24 0 0 0.000953801 0 0 ZNF876P 642280 broad.mit.edu 37 4 248180 248180 + RNA SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:248180C>T ENST00000356347.3 + 0 1004 NR_027481.1 AATCCTCATCCCTTAATAAAC 0.368000 20 53 0 0 0.00152264 0 0 ZNF169 169841 broad.mit.edu 37 9 97062697 97062697 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:97062697G>A ENST00000395395.2 + 5 947 c.857G>A c.(856-858)gGg>gAg p.G286E ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 286 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) AAGCACTCGGGGGAGAAGCCG 0.562000 23 25 0 0 0.00047179 0 0 MYH15 22989 broad.mit.edu 37 3 108149770 108149770 + Splice_Site SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:108149770C>T ENST00000273353.3 - 27 3338 c.e27-1 NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TAATTCTTTTCTGTTTAGAAA 0.299000 21 23 0 0 0.00152264 0 0 NUP54 53371 broad.mit.edu 37 4 77065565 77065565 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:77065565G>A ENST00000264883.3 - 2 269 c.129C>T c.(127-129)gcC>gcT p.A43A NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Silent_p.A43A|NUP54_ENST00000342467.6_5'UTR NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 43 9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TGTTAGTTGGGGCAGAAAAGC 0.358000 22 44 0 0 0.000295444 0 0 OR11L1 391189 broad.mit.edu 37 1 248004429 248004429 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:248004429G>A ENST00000355784.2 - 1 825 c.770C>T c.(769-771)tCc>tTc p.S257F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACATACATGGAGATCATGGT 0.498000 23 50 0 0 0.000375601 0 0 MAPT 4137 broad.mit.edu 37 17 44101502 44101502 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:44101502G>A ENST00000344290.5 + 15 2618 c.2296G>A c.(2296-2298)Gag>Aag p.E766K MAPT_ENST00000415613.2_Missense_Mutation_p.E766K|MAPT_ENST00000347967.5_Missense_Mutation_p.E306K|MAPT_ENST00000571987.1_Missense_Mutation_p.E748K|MAPT_ENST00000351559.5_Missense_Mutation_p.E431K|MAPT_ENST00000340799.5_Missense_Mutation_p.E402K|MAPT_ENST00000334239.8_Missense_Mutation_p.E342K|MAPT_ENST00000262410.5_Missense_Mutation_p.E748K|MAPT_ENST00000574436.1_Missense_Mutation_p.E431K|MAPT_ENST00000576518.1_Missense_Mutation_p.E331K|MAPT_ENST00000420682.2_Missense_Mutation_p.E402K|MAPT_ENST00000535772.1_Missense_Mutation_p.E400K|MAPT_ENST00000446361.3_Missense_Mutation_p.E373K|MAPT_ENST00000431008.3_Missense_Mutation_p.E400K NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 748 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GCTAGCTGACGAGGTGTCTGC 0.572000 13 33 0 0 0.000219431 0 0 PCLO 27445 broad.mit.edu 37 7 82457235 82457235 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:82457235G>A ENST00000423517.2 - 17 14634 c.14297C>T c.(14296-14298)cCt>cTt p.P4766L PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.P4766L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4628 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTCCACTCAGGATTAAGACT 0.333000 9 15 0 0 0.000274275 0 0 FBLN7 129804 broad.mit.edu 37 2 112942804 112942804 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:112942804C>T ENST00000331203.2 + 7 1106 c.835C>T c.(835-837)Ccg>Tcg p.P279S FBLN7_ENST00000409450.3_Missense_Mutation_p.P233S|FBLN7_ENST00000409903.1_Missense_Mutation_p.P279S|FBLN7_ENST00000409667.3_Missense_Mutation_p.P145S NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 279 EGF-like 3; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGGCCTGCAGCCGGTGTGCCC 0.577000 21 44 0 0 0.000375601 0 0 DPYSL2 1808 broad.mit.edu 37 8 26505265 26505265 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:26505265C>T ENST00000311151.5 + 11 1642 c.1230C>T c.(1228-1230)gtC>gtT p.V410V DPYSL2_ENST00000523027.1_Silent_p.V374V|DPYSL2_ENST00000521913.1_Silent_p.V374V NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 410 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) CCGACCTGGTCATCTGGGACC 0.527000 23 41 0 0 0.000586117 0 0 LGR5 8549 broad.mit.edu 37 12 71946885 71946885 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:71946885C>T ENST00000266674.5 + 5 772 c.461C>T c.(460-462)cCc>cTc p.P154L LGR5_ENST00000540815.2_Missense_Mutation_p.P154L|LGR5_ENST00000536515.1_Intron O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 154 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AGCTATGTGCCCCCAAGCTGT 0.498000 79 63 0 0 0.000781405 0 0 EBF2 64641 broad.mit.edu 37 8 25708165 25708165 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:25708165C>T ENST00000520164.1 - 15 2178 c.1641G>A c.(1639-1641)agG>agA p.R547R EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Silent_p.R399R NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 547 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AGCCTTGGGGCCTGATGACAG 0.522000 31 69 0 0 0.00178596 0 0 OR2W5 441932 broad.mit.edu 37 1 247654597 247654597 + RNA SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:247654597C>A ENST00000522351.1 + 0 228 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCAGGCTCCACACACCCATGT 0.498000 16 30 1.15088e-07 1.07088e-06 0.000422831 1 0 NR3C2 4306 broad.mit.edu 37 4 149357508 149357508 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:149357508C>T ENST00000355292.3 - 2 867 c.505G>A c.(505-507)Ggg>Agg p.G169R NR3C2_ENST00000358102.3_Missense_Mutation_p.G169R|NR3C2_ENST00000344721.4_Missense_Mutation_p.G169R|NR3C2_ENST00000512865.1_Missense_Mutation_p.G169R|NR3C2_ENST00000342437.4_Missense_Mutation_p.G169R|NR3C2_ENST00000511528.1_Missense_Mutation_p.G169R P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 169 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ACGGAGCTCCCAGAGTCAGAC 0.478000 41 70 0 0 0.000680045 0 0 CACNA1E 777 broad.mit.edu 37 1 181701796 181701796 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:181701796G>A ENST00000526775.1 + 19 2682 c.2517G>A c.(2515-2517)ggG>ggA p.G839G CACNA1E_ENST00000360108.3_Silent_p.G839G|CACNA1E_ENST00000358338.5_Silent_p.G790G|CACNA1E_ENST00000367567.4_Silent_p.G465G|CACNA1E_ENST00000357570.5_Silent_p.G809G|CACNA1E_ENST00000367573.2_Silent_p.G858G|CACNA1E_ENST00000367570.1_Silent_p.G858G NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 858 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCCTCAAGGGGGATGGAGGGG 0.672000 4 7 0 0 0.00024832 0 0 MAP7D2 256714 broad.mit.edu 37 X 20062506 20062506 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:20062506G>A ENST00000379651.3 - 6 750 c.732C>T c.(730-732)gcC>gcT p.A244A MAP7D2_ENST00000379643.5_Silent_p.A285A|MAP7D2_ENST00000543767.1_Silent_p.A129A|MAP7D2_ENST00000443379.3_Silent_p.A199A|MAP7D2_ENST00000452324.3_Silent_p.A192A NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 244 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CTCCTGAAAGGGCTTCTTTCC 0.468000 43 17 0 0 0.000781405 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186851 47186851 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:47186851C>T ENST00000447411.1 - 2 210 c.4G>A c.(4-6)Gat>Aat p.D2N SLC38A4_ENST00000266579.4_Missense_Mutation_p.D2N NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 2 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TCCATGGGATCCATTTGAGCT 0.433000 33 28 0 0 0.000953801 0 0 AOX1 316 broad.mit.edu 37 2 201507515 201507515 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:201507515C>T ENST00000374700.2 + 25 3079 c.2838C>T c.(2836-2838)tcC>tcT p.S946S AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 946 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTGGACTATCCCCTGAGAAGG 0.488000 20 33 0 0 0.00188189 0 0 MYBL2 4605 broad.mit.edu 37 20 42331389 42331389 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:42331389G>A ENST00000217026.4 + 8 1338 c.1211G>A c.(1210-1212)gGc>gAc p.G404D MYBL2_ENST00000396863.4_Missense_Mutation_p.G380D NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 404 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCTGGCATTGGCACACCGCCC 0.622000 5 14 0 0 0.000602214 0 0 GRM3 2913 broad.mit.edu 37 7 86415993 86415993 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:86415993C>T ENST00000361669.2 + 3 1984 c.885C>T c.(883-885)ttC>ttT p.F295F GRM3_ENST00000394720.2_Silent_p.F293F|GRM3_ENST00000439827.1_Silent_p.F295F|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.F167F NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 295 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATGCCTCCTTCACCTGGGTGG 0.677000 8 26 0 0 0.000442599 0 0 EXD1 161829 broad.mit.edu 37 15 41483761 41483761 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:41483761G>A ENST00000314992.5 - 8 759 c.569C>T c.(568-570)tCc>tTc p.S190F EXD1_ENST00000458580.2_Missense_Mutation_p.S248F NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 190 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 CGTTTCCATGGAAAACTGAAG 0.378000 18 17 0 0 0.000295444 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531314 140531314 + Silent SNP G G A rs139574362 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140531314G>A ENST00000231136.1 + 1 1476 c.1476G>A c.(1474-1476)caG>caA p.Q492Q PCDHB6_ENST00000543635.1_Silent_p.Q356Q NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 492 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCCGCCCCAGGACCCGCACC 0.652000 16 54 0 0 0.000958276 0 0 KL 9365 broad.mit.edu 37 13 33635751 33635751 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:33635751G>A ENST00000380099.3 + 4 2543 c.2535G>A c.(2533-2535)gtG>gtA p.V845V KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 845 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCAGTCAGGTGGCGGTAGTGC 0.483000 24 30 0 0 0.000586117 0 0 SLC12A3 6559 broad.mit.edu 37 16 56920313 56920313 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:56920313C>T ENST00000438926.2 + 16 1992 c.1963C>T c.(1963-1965)Cgc>Tgc p.R655C SLC12A3_ENST00000262502.5_Missense_Mutation_p.R654C|SLC12A3_ENST00000566786.1_Missense_Mutation_p.R654C|SLC12A3_ENST00000563236.1_Missense_Mutation_p.R655C NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 655 R -> C (in GS).|R -> H (in GS).|R -> L (in GS). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCCCAACTTCCGCCCGGCCCT 0.672000 6 30 0 0 0.00116845 0 0 KRT12 3859 broad.mit.edu 37 17 39022420 39022420 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:39022420C>T ENST00000251643.4 - 2 660 c.637G>A c.(637-639)Gac>Aac p.D213N NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 213 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ATCCTGAAGTCCTCAGCAGCT 0.463000 8 42 0 0 0.000673444 0 0 APOB 338 broad.mit.edu 37 2 21230295 21230295 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:21230295C>T ENST00000233242.1 - 26 9572 c.9445G>A c.(9445-9447)Gat>Aat p.D3149N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3149 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAGAGAAATCTTTCAGTGGA 0.333000 214 323 0 0 0.000781405 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995465 57995465 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:57995465A>G ENST00000316770.2 - 1 925 c.883T>C c.(883-885)Tac>Cac p.Y295H NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CTAAGGCTGTAAAGCAAAGGG 0.552000 38 29 0 0 0.000953801 0 0 PVRL4 81607 broad.mit.edu 37 1 161047265 161047265 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:161047265G>A ENST00000368012.3 - 3 1010 c.708C>T c.(706-708)atC>atT p.I236I NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 236 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGATGTGGGTGATCCTTTGGT 0.582000 49 120 0 0 0.000781405 0 0 ADH1B 125 broad.mit.edu 37 4 100235150 100235150 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:100235150C>T ENST00000305046.8 - 6 723 c.656G>A c.(655-657)aGa>aAa p.R219K ADH1B_ENST00000394887.3_Missense_Mutation_p.R179K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 219 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CGCAATGATTCTGGCTGCTCC 0.517000 77 173 0 0 0.000781405 0 0 CHIT1 1118 broad.mit.edu 37 1 203188447 203188447 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:203188447C>T ENST00000367229.1 - 9 960 c.926G>A c.(925-927)tGg>tAg p.W309* CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W290*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W300* NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 309 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GGCCCCCTTCCAGGAGCAGAC 0.572000 38 50 0 0 0.000953801 0 0 STS 412 broad.mit.edu 37 X 7243496 7243496 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:7243496C>T ENST00000217961.4 + 8 1433 c.1213C>T c.(1213-1215)Cct>Tct p.P405S NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 405 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GGACATATTTCCTACAGTAGC 0.542000 Ichthyosis 23 15 0 0 0.000878237 0 0 EDIL3 10085 broad.mit.edu 37 5 83362369 83362369 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:83362369C>T ENST00000296591.5 - 7 1126 c.708G>A c.(706-708)agG>agA p.R236R EDIL3_ENST00000380138.3_Silent_p.R226R|EDIL3_ENST00000510271.1_5'UTR NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 236 F5/8 type C 1. 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) GGCTTCCAATCCTCTTGGCTC 0.388000 30 34 0 0 0.000409698 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507480 74507480 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:74507480G>A ENST00000354431.4 - 7 1326 c.1135C>T c.(1135-1137)Cct>Tct p.P379S LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P379S NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 379 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 GGATATGCAGGAAAAAAATGT 0.353000 11 72 0 0 0.000308642 0 0 TPTE 7179 broad.mit.edu 37 21 10971323 10971323 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr21:10971323C>T ENST00000298232.7 - 5 401 c.34G>A c.(34-36)Gga>Aga p.G12R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G12R|TPTE_ENST00000342420.5_Missense_Mutation_p.G12R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 12 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATGATGACTCCCGCCAGGTCA 0.448000 10 51 0 0 0.00185496 0 0 BTBD7 55727 broad.mit.edu 37 14 93730210 93730210 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:93730210G>A ENST00000334746.5 - 4 1599 c.1292C>T c.(1291-1293)tCc>tTc p.S431F BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.S80F NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 431 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CATGACCTGGGAAAATTCCTC 0.418000 37 28 0 0 0.00111076 0 0 SH2D4A 63898 broad.mit.edu 37 8 19250940 19250940 + Missense_Mutation SNP C C T rs116257653 by1000genomes TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:19250940C>T ENST00000265807.3 + 9 1571 c.1160C>T c.(1159-1161)tCg>tTg p.S387L SH2D4A_ENST00000519207.1_Missense_Mutation_p.S387L|SH2D4A_ENST00000518040.1_Missense_Mutation_p.S342L NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 387 SH2. cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TCCTATCTGTCGGAGGACGGC 0.532000 43 76 0 0 0.000509022 0 0 CTC1 80169 broad.mit.edu 37 17 8132659 8132659 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:8132659G>A ENST00000315684.8 - 19 3124 c.3117C>T c.(3115-3117)ctC>ctT p.L1039L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1039 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 ACACCCAGAAGAGCTGAAGGC 0.567000 29 44 0 0 0.00178596 0 0 FECH 2235 broad.mit.edu 37 18 55218048 55218048 + Nonsense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:55218048G>A ENST00000262093.5 - 11 1319 c.1168C>T c.(1168-1170)Cag>Tag p.Q390* FECH_ENST00000382873.3_Nonsense_Mutation_p.Q396* NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 390 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) TCGTTTGACTGGATGTGTGAA 0.562000 12 34 0 0 0.000219431 0 0 CCDC73 493860 broad.mit.edu 37 11 32636437 32636437 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:32636437G>A ENST00000335185.5 - 16 1470 c.1427C>T c.(1426-1428)tCt>tTt p.S476F NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 476 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTCATCCTGAGAAACAACAGT 0.333000 27 26 0 0 0.00127121 0 0 TTN 7273 broad.mit.edu 37 2 179454318 179454318 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:179454318A>G ENST00000589042.1 - 304 62358 c.62134T>C c.(62134-62136)Tcc>Ccc p.S20712P TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S11647P|TTN_ENST00000342175.6_Missense_Mutation_p.S11839P|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19071P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S18144P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11772P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19071 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGTCATCGGAGCCCTTAAGC 0.418000 44 67 0 0 0.000589545 0 0 TLR5 7100 broad.mit.edu 37 1 223285632 223285632 + Missense_Mutation SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:223285632T>C ENST00000540964.1 - 4 1203 c.742A>G c.(742-744)Aat>Gat p.N248D TLR5_ENST00000342210.6_Missense_Mutation_p.N248D O60602 TLR5_HUMAN toll-like receptor 5 248 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity p.N248D(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CTGATGGCATTGCTAAAGTTT 0.473000 24 95 0 0 0.000720815 0 0 ASNA1 439 broad.mit.edu 37 19 12858889 12858889 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:12858889G>A ENST00000591090.1 + 8 1120 c.1018G>A c.(1018-1020)Gag>Aag p.E340K ASNA1_ENST00000357332.3_Missense_Mutation_p.E340K O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 340 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) CCTCCTCCTGGAGCCCTACAA 0.637000 12 16 0 0 0.00136819 0 0 DHX57 90957 broad.mit.edu 37 2 39050179 39050179 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:39050179G>A ENST00000295373.6 - 17 3373 c.3247C>T c.(3247-3249)Cct>Tct p.P1083S NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1083 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) GTGAGAGCAGGATCCAAACAG 0.443000 11 14 0 0 0.000673444 0 0 MYO15A 51168 broad.mit.edu 37 17 18023419 18023419 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:18023419G>A ENST00000205890.5 + 2 1643 c.1305G>A c.(1303-1305)ctG>ctA p.L435L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 435 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCGCCGAGCTGGAGGAACCAG 0.667000 15 19 0 0 0.00074312 0 0 LILRP2 79166 broad.mit.edu 37 19 55221524 55221524 + RNA SNP A A C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:55221524A>C ENST00000413439.1 + 0 1304 GGCCAACTTCACCCTGGGCCC 0.642000 12 15 0 0 0.00185496 0 0 C1orf226 400793 broad.mit.edu 37 1 162353282 162353282 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:162353282G>A ENST00000458626.2 + 2 800 c.628G>A c.(628-630)Gaa>Aaa p.E210K C1orf226_ENST00000426197.2_Missense_Mutation_p.E253K NM_001085375.1 NP_001078844.1 A1L170 CA226_HUMAN chromosome 1 open reading frame 226 210 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 TAGCCAGGACGAATCCAAGCT 0.537000 6 6 0 0 0.000274275 0 0 DNAH8 1769 broad.mit.edu 37 6 38875892 38875892 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:38875892C>T ENST00000359357.3 + 62 9112 c.8858C>T c.(8857-8859)tCt>tTt p.S2953F DNAH8_ENST00000449981.2_Missense_Mutation_p.S3170F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2917F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTCTGCTTTTCTCCAGTAAGT 0.328000 20 25 0 0 0.00121646 0 0 SLC26A5 375611 broad.mit.edu 37 7 103048315 103048315 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:103048315G>A ENST00000306312.3 - 8 1132 c.871C>T c.(871-873)Cct>Tct p.P291S SLC26A5_ENST00000393723.1_Missense_Mutation_p.P291S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P254S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P291S|SLC26A5_ENST00000393735.2_Missense_Mutation_p.P291S|SLC26A5_ENST00000356767.4_Missense_Mutation_p.P291S|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P291S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P291S|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P291S NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 291 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AACTCTAAAGGAATAGGCGCC 0.453000 16 49 0 0 0.000422831 0 0 DTNA 1837 broad.mit.edu 37 18 32391985 32391985 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:32391985C>T ENST00000283365.9 + 7 862 c.511C>T c.(511-513)Ctt>Ttt p.L171F DTNA_ENST00000597599.1_Missense_Mutation_p.L171F|DTNA_ENST00000598334.1_Missense_Mutation_p.L171F|DTNA_ENST00000269191.6_Missense_Mutation_p.L171F|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.L171F|DTNA_ENST00000399113.3_Missense_Mutation_p.L171F|DTNA_ENST00000269190.7_Missense_Mutation_p.L171F|DTNA_ENST00000444659.1_Missense_Mutation_p.L171F|DTNA_ENST00000598142.1_Missense_Mutation_p.L171F|DTNA_ENST00000595022.1_Missense_Mutation_p.L171F|DTNA_ENST00000348997.5_Missense_Mutation_p.L171F|DTNA_ENST00000598774.1_Missense_Mutation_p.L171F|DTNA_ENST00000596745.1_Missense_Mutation_p.L171F|DTNA_ENST00000399121.5_Missense_Mutation_p.L171F|DTNA_ENST00000315456.6_Missense_Mutation_p.L171F NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 171 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TGACCAATTCCTTCGGGAAGT 0.418000 20 39 0 0 0.000295444 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021119 51021119 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:51021119G>A ENST00000599957.1 - 3 2048 c.1851C>T c.(1849-1851)atC>atT p.I617I LRRC4B_ENST00000389201.3_Silent_p.I617I Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 617 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CCACGTTGATGATCTCCACGG 0.706000 9 16 0 0 0.000673444 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808853 18808853 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:18808853G>A ENST00000400664.1 + 1 1430 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 460 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGTGATGAGCGAAAACTACCT 0.642000 27 31 0 0 0.000878237 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915670 202915670 + Silent SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:202915670A>G ENST00000340990.5 - 4 625 c.327T>C c.(325-327)taT>taC p.Y109Y ADIPOR1_ENST00000367254.3_Silent_p.Y109Y|ADIPOR1_ENST00000436244.1_Silent_p.Y109Y NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 109 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) CATGTAGCAGATAGTCGTTGT 0.512000 14 59 0 0 0.000219431 0 0 SLC4A5 57835 broad.mit.edu 37 2 74489270 74489270 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:74489270G>A ENST00000394019.2 - 11 1202 c.805C>T c.(805-807)Cgt>Tgt p.R269C SLC4A5_ENST00000359484.4_Missense_Mutation_p.R205C|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R269C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R205C|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R269C|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R269C|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R269C|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R269C NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 269 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCACACAGACGTCCGTAATTT 0.602000 5 14 0 0 0.000602214 0 0 FFAR4 338557 broad.mit.edu 37 10 95347054 95347054 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:95347054G>A ENST00000371483.4 + 4 878 c.822G>A c.(820-822)caG>caA p.Q274Q FFAR4_ENST00000371481.4_Silent_p.Q258Q|FFAR4_ENST00000604414.1_Intron NM_181745.3 NP_859529.2 free fatty acid receptor 4 TGTCCCAGCAGGACTTCCGGC 0.547000 10 40 0 0 0.000673444 0 0 HGF 3082 broad.mit.edu 37 7 81381541 81381541 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:81381541C>T ENST00000222390.5 - 5 746 c.520G>A c.(520-522)Gaa>Aaa p.E174K HGF_ENST00000444829.2_Missense_Mutation_p.E174K|HGF_ENST00000423064.2_Missense_Mutation_p.E174K|HGF_ENST00000453411.1_Missense_Mutation_p.E169K|HGF_ENST00000457544.2_Missense_Mutation_p.E169K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 174 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CAGTAGTTTTCCTGTAGGTCT 0.418000 21 36 0 0 0.000375601 0 0 VPS13D 55187 broad.mit.edu 37 1 12368617 12368617 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:12368617C>T ENST00000358136.3 + 27 6699 c.6569C>T c.(6568-6570)tCc>tTc p.S2190F VPS13D_ENST00000356315.4_Missense_Mutation_p.S2190F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2190 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATCTTCCCTTCCTATTTTGTG 0.463000 28 108 0 0 0.000409698 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400182 47400182 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:47400182C>T ENST00000457840.2 - 6 676 c.373G>A c.(373-375)Gga>Aga p.G125R CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.L280L|CYP4A11_ENST00000310638.4_Silent_p.L280L|CYP4A11_ENST00000371904.4_Silent_p.L281L Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 0 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TGATCTTCTCCAGCTCCCCCT 0.517000 20 44 0 0 0.00127121 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101811446 101811446 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:101811446C>T ENST00000506729.1 - 4 1025 c.854G>A c.(853-855)gGa>gAa p.G285E SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G223E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G223E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G285E|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G223E Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 285 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TAGTGGTGCTCCTAGCACATA 0.328000 19 109 0 0 0.00188189 0 0 MYOCD 93649 broad.mit.edu 37 17 12626325 12626325 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:12626325G>A ENST00000425538.1 + 5 615 c.415_splice c.e5+1 p.G139_splice MYOCD_ENST00000343344.4_Splice_Site_p.G139_splice|MYOCD_ENST00000395988.1_Splice_Site_p.G43_splice NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 139 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGCCATAAAAGGTAGTTAGAA 0.478000 27 50 0 0 0.000339439 0 0 FRS2 10818 broad.mit.edu 37 12 69965945 69965945 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:69965945C>T ENST00000299293.2 + 9 970 c.460C>T c.(460-462)Ccc>Tcc p.P154S FRS2_ENST00000550389.1_Missense_Mutation_p.P154S|FRS2_ENST00000549921.1_Missense_Mutation_p.P154S|FRS2_ENST00000397997.2_Missense_Mutation_p.P154S NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 154 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCCCCGATATCCCTCATTTGG 0.478000 29 19 0 0 0.00127121 0 0 EFCAB6 64800 broad.mit.edu 37 22 44112819 44112819 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr22:44112819G>A ENST00000262726.7 - 9 1044 c.791C>T c.(790-792)tCc>tTc p.S264F EFCAB6_ENST00000356087.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000358439.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S112F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTCCTTTTTGGAATTTTTGGC 0.353000 15 42 0 0 0.000422831 0 0 ITGAM 3684 broad.mit.edu 37 16 31336917 31336917 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:31336917C>T ENST00000544665.3 + 21 2676 c.2605C>T c.(2605-2607)Cac>Tac p.H869Y ITGAM_ENST00000287497.8_Missense_Mutation_p.H868Y NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 868 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CAGCATAAACCACCCCATCTT 0.542000 11 15 0 0 0.000978159 0 0 CARD11 84433 broad.mit.edu 37 7 2951870 2951870 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:2951870C>T ENST00000396946.4 - 23 3483 c.3080G>A c.(3079-3081)cGa>cAa p.R1027Q NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1027 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTTCTTCTCTCGGGAGTAGAT 0.592000 Mis DLBCL 9 33 0 0 0.000274275 0 0 C1orf141 400757 broad.mit.edu 37 1 67559025 67559025 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:67559025C>T ENST00000371007.2 - 8 975 c.866G>A c.(865-867)gGc>gAc p.G289D C1orf141_ENST00000371006.1_Missense_Mutation_p.G289D|C1orf141_ENST00000544837.1_Missense_Mutation_p.G289D NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 289 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 AGTTGTGTGGCCCGCTTTAAA 0.328000 23 83 0 0 0.000586117 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95109969 95109969 + RNA SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:95109969G>A ENST00000469935.1 + 0 1006 NR_015340.1 ACCACGCTGGGAACACCACCA 0.582000 12 7 0 0 0.00185496 0 0 ADH1A 124 broad.mit.edu 37 4 100205881 100205881 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:100205881C>T ENST00000209668.2 - 4 452 c.339G>A c.(337-339)ttG>ttA p.L113L RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 113 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACTCGTTTTTCAAGCAGTAGT 0.433000 16 44 0 0 0.000566183 0 0 BAZ2B 29994 broad.mit.edu 37 2 160193466 160193466 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:160193466G>A ENST00000392783.2 - 33 6278 c.5783C>T c.(5782-5784)tCa>tTa p.S1928L BAZ2B_ENST00000343439.5_Missense_Mutation_p.S1828L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S1894L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S1892L NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1928 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTTCATAATTGATTTTTCCCA 0.358000 9 42 0 0 0.000274275 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203025 140203025 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140203025G>A ENST00000529859.1 + 1 1665 c.1665G>A c.(1663-1665)ctG>ctA p.L555L PCDHA5_ENST00000529619.1_Silent_p.L555L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.L555L|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCGTGCTGGACGAGAACG 0.706000 24 38 0 0 0.00178596 0 0 CPED1 79974 broad.mit.edu 37 7 120907287 120907287 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:120907287C>T ENST00000310396.5 + 21 3119 c.2652C>T c.(2650-2652)atC>atT p.I884I NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TACTCAATATCCTAGTGATCA 0.318000 4 21 0 0 0.000602214 0 0 ZNF235 9310 broad.mit.edu 37 19 44792215 44792215 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:44792215G>A ENST00000291182.4 - 5 1475 c.1373C>T c.(1372-1374)cCa>cTa p.P458L ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) ACATTTGTATGGTTTTTCTTC 0.388000 16 55 0 0 0.00074312 0 0 C2orf62 375307 broad.mit.edu 37 2 219229428 219229428 + Silent SNP G G A rs148292950 by1000genomes TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:219229428G>A ENST00000289388.3 + 7 737 c.708G>A c.(706-708)gcG>gcA p.A236A C2orf62_ENST00000481940.1_Intron NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 236 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTCCACGCGGAGGAGGGCA 0.592000 12 34 0 0 0.000978159 0 0 LCT 3938 broad.mit.edu 37 2 136570035 136570035 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:136570035C>T ENST00000264162.2 - 7 2209 c.2199G>A c.(2197-2199)agG>agA p.R733R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 733 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) GCAACAGCCTCCTTATCCCCC 0.502000 11 39 0 0 0.000978159 0 0 KRT73 319101 broad.mit.edu 37 12 53002213 53002213 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:53002213C>T ENST00000305748.3 - 9 1424 c.1390G>A c.(1390-1392)Ggg>Agg p.G464R RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 464 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGCCATCCCGGCCATGGAG 0.622000 10 7 0 0 0.000673444 0 0 METTL10 399818 broad.mit.edu 37 10 126454046 126454046 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:126454046G>A ENST00000494792.1 - 5 424 c.425C>T c.(424-426)tCt>tTt p.S142F METTL10_ENST00000368836.2_Silent_p.L177L ACACCCTGGAGAGAGATTTCA 0.363000 21 63 0 0 0.00152264 0 0 PLK1 5347 broad.mit.edu 37 16 23700835 23700835 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:23700835C>T ENST00000300093.4 + 9 1557 c.1446C>T c.(1444-1446)ttC>ttT p.F482F NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 482 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) TTAAATATTTCCGCAATTACA 0.552000 18 43 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179425768 179425768 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:179425768C>T ENST00000589042.1 - 326 85315 c.85091G>A c.(85090-85092)cGa>cAa p.R28364Q TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19299Q|TTN_ENST00000342175.6_Missense_Mutation_p.R19491Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26723Q|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25796Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19424Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26723 Fibronectin type-III 106. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATAACGTCTCGGAACTTGAC 0.448000 72 111 0 0 0.000781405 0 0 OR8B2 26595 broad.mit.edu 37 11 124252578 124252578 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:124252578A>T ENST00000375013.2 - 1 680 c.662T>A c.(661-663)aTt>aAt p.I221N NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCTAGTGACAATGAAAACATA 0.418000 46 52 0 0 0.000781405 0 0 RNPEP 6051 broad.mit.edu 37 1 201972397 201972397 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:201972397G>A ENST00000295640.4 + 9 1502 c.1459G>A c.(1459-1461)Ggc>Agc p.G487S RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.G448S|RP11-465N4.4_ENST00000419190.1_RNA NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 487 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GAATACCCCCGGCTGGCCCCC 0.547000 12 24 0 0 0.00136819 0 0 HDLBP 3069 broad.mit.edu 37 2 242203964 242203964 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:242203964G>A ENST00000391975.1 - 4 360 c.133C>T c.(133-135)Cct>Tct p.P45S HDLBP_ENST00000391976.2_Missense_Mutation_p.P45S|HDLBP_ENST00000427183.2_Missense_Mutation_p.P81S|HDLBP_ENST00000310931.4_Missense_Mutation_p.P45S NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 45 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGAAGTGGAGGGAAGGCATCC 0.517000 78 85 0 0 0.000781405 0 0 PDYN 5173 broad.mit.edu 37 20 1961292 1961292 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:1961292C>T ENST00000217305.2 - 4 667 c.442G>A c.(442-444)Gat>Aat p.D148N PDYN_ENST00000540134.1_Missense_Mutation_p.D148N|PDYN_ENST00000539905.1_Missense_Mutation_p.D148N|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 148 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCTGGGCATCCCTCATCAGC 0.557000 11 32 0 0 0.000673444 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188595 140188595 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140188595C>T ENST00000530339.1 + 1 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S608L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S608L NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTACGAGCTG 0.677000 17 34 0 0 0.00074312 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71187172 71187172 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:71187172C>T ENST00000234396.4 + 6 622 c.549C>T c.(547-549)atC>atT p.I183I AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.I183I NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 183 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GCCAGAAGATCCCCATCTTCT 0.627000 7 30 0 0 8.12818e-05 0 0 SCAND3 114821 broad.mit.edu 37 6 28540105 28540105 + Silent SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:28540105T>C ENST00000452236.2 - 4 4178 c.3561A>G c.(3559-3561)gaA>gaG p.E1187E NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1187 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 attcaaaacattctaacaaat 0.279000 10 9 0 0 0.000442599 0 0 CACNA1B 774 broad.mit.edu 37 9 140941478 140941478 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:140941478G>A ENST00000277549.5 + 22 3681 c.1112G>A c.(1111-1113)aGg>aAg p.R371K CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1179K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1179K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1179K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1180K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1180K Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1179 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GACTCGCCCAGGAACAACGTG 0.672000 4 1 0 0 0.00024832 0 0 PTPN14 5784 broad.mit.edu 37 1 214557829 214557829 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:214557829G>A ENST00000366956.5 - 13 1563 c.1369C>T c.(1369-1371)Ctg>Ttg p.L457L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 457 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TCTGTATGCAGGATCCCCCTC 0.562000 81 115 0 0 0.000781405 0 0 ALG13 79868 broad.mit.edu 37 X 110951568 110951568 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:110951568C>T ENST00000394780.3 + 4 709 c.697C>T c.(697-699)Cga>Tga p.R233* ALG13_ENST00000251943.4_Nonsense_Mutation_p.R129*|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 233 OTU. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 AGGGCTGTTTCGAAAGCTGAC 0.443000 63 28 0 0 0.000781405 0 0 TBC1D21 161514 broad.mit.edu 37 15 74180852 74180852 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:74180852G>A ENST00000300504.2 + 10 1059 c.976G>A c.(976-978)Gat>Aat p.D326N TBC1D21_ENST00000535547.2_Missense_Mutation_p.D290N|TBC1D21_ENST00000562056.1_Missense_Mutation_p.D289N NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 326 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CATCCAGAAGGATGTAAGTTG 0.562000 9 16 0 0 0.000673444 0 0 OR1L6 392390 broad.mit.edu 37 9 125512978 125512978 + Silent SNP C C G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:125512978C>G ENST00000373684.1 + 1 960 c.960C>G c.(958-960)ccC>ccG p.P320P OR1L6_ENST00000304720.2_Silent_p.P284P Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TAGTGACACCCATGCTGAACC 0.418000 3 13 0 0 0.00024832 0 0 USP10 9100 broad.mit.edu 37 16 84801964 84801964 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:84801964G>A ENST00000219473.7 + 11 2111 c.1998_splice c.e11+1 p.E666_splice USP10_ENST00000570191.1_Splice_Site_p.E670_splice NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 666 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CCAAACAAGAGGTATGTTCAC 0.433000 6 9 0 0 8.12818e-05 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740765 37740765 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:37740765C>T ENST00000539465.1 + 15 2833 c.2240C>T c.(2239-2241)cCc>cTc p.P747L FRMPD1_ENST00000377765.3_Missense_Mutation_p.P747L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P616L|FRMPD1_ENST00000536622.1_Missense_Mutation_p.P569L Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 747 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GAGGCCCAGCCCAGTTCCATG 0.637000 5 6 0 0 0.000602214 0 0 DSC2 1824 broad.mit.edu 37 18 28648157 28648157 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:28648157C>T ENST00000280904.6 - 16 2973 c.2530G>A c.(2530-2532)Gat>Aat p.D844N DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 844 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGATTTTCATCTTGATTACAC 0.358000 24 43 0 0 0.00178596 0 0 RIMS1 22999 broad.mit.edu 37 6 72968727 72968727 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:72968727C>T ENST00000264839.7 + 18 2966 c.2966C>T c.(2965-2967)tCt>tTt p.S989F RIMS1_ENST00000348717.5_Missense_Mutation_p.S988F|RIMS1_ENST00000522291.1_Missense_Mutation_p.S988F|RIMS1_ENST00000401910.3_Missense_Mutation_p.S462F|RIMS1_ENST00000521978.1_Missense_Mutation_p.S989F|RIMS1_ENST00000520567.1_Missense_Mutation_p.S988F|RIMS1_ENST00000518273.1_Missense_Mutation_p.S989F|RIMS1_ENST00000517960.1_Missense_Mutation_p.S988F|RIMS1_ENST00000517827.1_Missense_Mutation_p.S448F|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.S989F|RIMS1_ENST00000523963.1_Missense_Mutation_p.S463F|RIMS1_ENST00000425662.2_Missense_Mutation_p.S382F Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 989 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGGTCACGTTCTCCAACCAGA 0.383000 36 69 0 0 0.000814825 0 0 SEPP1 6414 broad.mit.edu 37 5 42807042 42807042 + Missense_Mutation SNP C C G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:42807042C>G ENST00000514985.1 - 3 628 c.372G>C c.(370-372)tgG>tgC p.W124C SEPP1_ENST00000509276.1_Intron|SEPP1_ENST00000507920.1_Intron|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000506577.1_Missense_Mutation_p.W124C|SEPP1_ENST00000511224.1_Missense_Mutation_p.W124C NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 124 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTAAAAGAGTCCAGACATCTG 0.318000 5 71 0 0 0.00116845 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677497 19677497 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:19677497C>T ENST00000328041.6 + 14 1745 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 516 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGATCACCTTCCTGGCTGCTG 0.587000 10 33 0 0 0.000978159 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147044 52147044 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:52147044G>A ENST00000360844.6 - 5 1041 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 334 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGCACAGAAAGGATGAAGGAC 0.587000 17 34 0 0 0.00074312 0 0 KPRP 448834 broad.mit.edu 37 1 152733161 152733161 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:152733161C>T ENST00000368773.1 + 2 1155 c.1097C>T c.(1096-1098)tCc>tTc p.S366F KPRP_ENST00000606109.1_Missense_Mutation_p.S366F NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 366 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGGCGCCTCCTGCCCTGAG 0.647000 19 38 0 0 0.00152264 0 0 MTTP 4547 broad.mit.edu 37 4 100503146 100503146 + Missense_Mutation SNP G G A rs145545828 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:100503146G>A ENST00000457717.1 + 3 402 c.146G>A c.(145-147)gGa>gAa p.G49E MTTP_ENST00000511045.1_Missense_Mutation_p.G76E|MTTP_ENST00000265517.5_Missense_Mutation_p.G49E|MTTP_ENST00000422897.2_Missense_Mutation_p.G49E NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 49 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.G49V(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CGGGGCAAAGGAAAACTGCAA 0.463000 39 60 0 0 0.000953801 0 0 TMEM189 387521 broad.mit.edu 37 20 48760138 48760138 + Missense_Mutation SNP A A C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:48760138A>C ENST00000557021.1 - 2 302 c.142T>G c.(142-144)Tgc>Ggc p.C48G TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.C48G|TMEM189_ENST00000371652.4_Missense_Mutation_p.C48G|TMEM189_ENST00000371650.5_Missense_Mutation_p.C48G NM_199203.2 NP_954673.1 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) ATCACAGAGCACCACTCCTGG 0.607000 10 120 0 0 0.000673444 0 0 EPPK1 83481 broad.mit.edu 37 8 144943357 144943357 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:144943357G>A ENST00000525985.1 - 2 4136 c.4065C>T c.(4063-4065)ctC>ctT p.L1355L P58107 EPIPL_HUMAN epiplakin 1 1355 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCACCTGCAGGAGGGGCAAGC 0.687000 9 9 0 0 0.000274275 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101597671 101597671 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:101597671C>T ENST00000310954.6 - 5 1252 c.966G>A c.(964-966)tgG>tgA p.W322* NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 322 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.W322C(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AAGCAAAGATCCATGATAGAA 0.363000 9 35 0 0 0.000442599 0 0 C6 729 broad.mit.edu 37 5 41160404 41160404 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:41160404C>T ENST00000263413.3 - 11 1788 c.1524G>A c.(1522-1524)agG>agA p.R508R C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.R508R NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 508 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.R508S(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCAAAGCTTTCCTGAGGTTGT 0.522000 11 59 0 0 0.000978159 0 0 OR10J5 127385 broad.mit.edu 37 1 159505246 159505246 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:159505246C>T ENST00000334857.2 - 1 596 c.552G>A c.(550-552)atG>atA p.M184I NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AAGAAAGTTTCATGACTGGGT 0.393000 17 54 0 0 0.00074312 0 0 RBM4B 83759 broad.mit.edu 37 11 66436569 66436569 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:66436569G>A ENST00000525754.1 - 2 1274 c.606C>T c.(604-606)acC>acT p.T202T RBM4B_ENST00000310046.4_Silent_p.T202T|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 202 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 CGTAGCCCATGGTGTAAGGTG 0.512000 20 9 0 0 0.00152264 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208509 140208509 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140208509C>T ENST00000529310.1 + 1 947 c.833C>T c.(832-834)tCa>tTa p.S278L PCDHA6_ENST00000527624.1_Missense_Mutation_p.S278L|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.S278L(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCAATTTCATATTCTTTT 0.388000 15 73 0 0 0.000422831 0 0 RPA1 6117 broad.mit.edu 37 17 1783889 1783889 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:1783889G>A ENST00000254719.5 + 12 1255 c.1145G>A c.(1144-1146)cGa>cAa p.R382Q NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 382 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 AAAGGAGCCCGAGTCTCTGAT 0.483000 Nucleotide excision repair (NER) 27 29 0 0 0.000720815 0 0 PTPRT 11122 broad.mit.edu 37 20 40790031 40790031 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:40790031C>T ENST00000373198.3 - 18 2944 c.2709G>A c.(2707-2709)atG>atA p.M903I PTPRT_ENST00000373190.1_Missense_Mutation_p.M880I|PTPRT_ENST00000373193.3_Missense_Mutation_p.M884I|PTPRT_ENST00000373187.1_Missense_Mutation_p.M881I|PTPRT_ENST00000356100.2_Missense_Mutation_p.M890I|PTPRT_ENST00000373184.1_Missense_Mutation_p.M871I|PTPRT_ENST00000373201.1_Missense_Mutation_p.M871I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 881 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCCTCTCTTCATCTGCGTGA 0.562000 12 30 0 0 0.00136819 0 0 PSD3 23362 broad.mit.edu 37 8 18622975 18622975 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:18622975G>A ENST00000440756.2 - 9 2264 c.2162C>T c.(2161-2163)tCc>tTc p.S721F PSD3_ENST00000327040.8_Missense_Mutation_p.S719F|PSD3_ENST00000286485.8_Missense_Mutation_p.S185F|PSD3_ENST00000523619.1_Missense_Mutation_p.S654F Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 720 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CAGATCCTTGGAGAAATCAAC 0.398000 23 69 0 0 0.000878237 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317117 30317117 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:30317117C>T ENST00000375377.1 - 3 2061 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 654 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCTTCTGGTTCCCCTAGATCT 0.517000 7 40 0 0 8.12818e-05 0 0 PRR16 51334 broad.mit.edu 37 5 120021835 120021835 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:120021835G>A ENST00000379551.2 + 3 634 c.277G>A c.(277-279)Gtc>Atc p.V93I PRR16_ENST00000505123.1_Missense_Mutation_p.V46I|PRR16_ENST00000446965.1_Missense_Mutation_p.V46I|PRR16_ENST00000407149.2_Missense_Mutation_p.V116I NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 116 endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TATCCTCACGGTCCTGAGAAA 0.522000 33 29 0 0 0.000409698 0 0 PGD 5226 broad.mit.edu 37 1 10468150 10468150 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:10468150C>T ENST00000538557.1 + 6 677 c.433C>T c.(433-435)Caa>Taa p.Q145* PGD_ENST00000541529.1_Nonsense_Mutation_p.Q136*|PGD_ENST00000270776.8_Nonsense_Mutation_p.Q158* P52209 6PGD_HUMAN phosphogluconate dehydrogenase 158 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GACCATCTTCCAAGGCATTGC 0.498000 17 99 0 0 0.00074312 0 0 WWP2 11060 broad.mit.edu 37 16 69965485 69965485 + Splice_Site SNP T T C TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:69965485T>C ENST00000359154.2 + 15 1694 c.e15+2 WWP2_ENST00000542271.1_Splice_Site|WWP2_ENST00000356003.2_Splice_Site|WWP2_ENST00000568684.1_Splice_Site|WWP2_ENST00000544162.1_Splice_Site|WWP2_ENST00000448661.1_Splice_Site NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTCCAACAGGTTAGATCATGG 0.507000 23 64 0 0 0.00047179 0 0 SHANK1 50944 broad.mit.edu 37 19 51217085 51217085 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:51217085G>A ENST00000293441.1 - 5 780 c.762C>T c.(760-762)gcC>gcT p.A254A SHANK1_ENST00000391814.1_Silent_p.A254A|SHANK1_ENST00000359082.3_Silent_p.A254A NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 254 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GGGCGCATGCGGCCTTATGCA 0.637000 17 16 0 0 0.00074312 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116067573 116067573 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:116067573C>T ENST00000369271.3 - 10 1363 c.1063G>A c.(1063-1065)Gag>Aag p.E355K AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E355K|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E408K NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 355 PH 2. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CTGGATGTCTCGAGGGACCTC 0.542000 5 26 0 0 0.000602214 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740766 37740766 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:37740766C>T ENST00000539465.1 + 15 2834 c.2241C>T c.(2239-2241)ccC>ccT p.P747P FRMPD1_ENST00000377765.3_Silent_p.P747P|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.P616P|FRMPD1_ENST00000536622.1_Silent_p.P569P Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 747 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AGGCCCAGCCCAGTTCCATGC 0.642000 5 6 0 0 0.000602214 0 0 LARP1B 55132 broad.mit.edu 37 4 129099679 129099679 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:129099679C>T ENST00000326639.6 + 14 1989 c.1778C>T c.(1777-1779)tCt>tTt p.S593F LARP1B_ENST00000441387.1_Missense_Mutation_p.S593F|LARP1B_ENST00000354456.3_Missense_Mutation_p.S12F|LARP1B_ENST00000264584.5_Missense_Mutation_p.S534F NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 593 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GTTCCAGAATCTCCTAGAATT 0.378000 67 167 0 0 0.000781405 0 0 DAB1 1600 broad.mit.edu 37 1 57476912 57476912 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:57476912G>A ENST00000371236.2 - 13 1741 c.1478C>T c.(1477-1479)tCc>tTc p.S493F DAB1_ENST00000371234.4_Missense_Mutation_p.S493F|DAB1_ENST00000371231.1_Missense_Mutation_p.S526F|DAB1_ENST00000439789.2_Missense_Mutation_p.S407F|DAB1_ENST00000414851.2_Missense_Mutation_p.S475F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S491F O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 526 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 AGATGATTTGGATGGAGAGCT 0.478000 12 76 0 0 0.000219431 0 0 PREX2 80243 broad.mit.edu 37 8 69058566 69058566 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:69058566C>T ENST00000288368.4 + 34 4487 c.4210C>T c.(4210-4212)Cat>Tat p.H1404Y NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1404 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTTTAAAATTCATCCTGTTCT 0.318000 30 47 0 0 0.00178596 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182679059 182679059 + Missense_Mutation SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:182679059G>T ENST00000292782.4 - 4 628 c.475C>A c.(475-477)Cag>Aag p.Q159K DCUN1D1_ENST00000469954.1_Missense_Mutation_p.Q144K NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 159 DCUN1. ubiquitin ligase complex protein binding p.Q159K(1) endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) AAAGTAAACTGGTAAAAATCC 0.313000 10 338 0.000442599 0.00408131 0.000442599 1 0 EIF2AK1 27102 broad.mit.edu 37 7 6064348 6064348 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:6064348C>T ENST00000199389.6 - 15 1995 c.1849G>A c.(1849-1851)Gac>Aac p.D617N EIF2AK1_ENST00000536084.1_Missense_Mutation_p.D493N NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 617 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) ACCCCTTTGTCTTGAGAAAGG 0.378000 22 45 0 0 0.00047179 0 0 TDRD5 163589 broad.mit.edu 37 1 179561892 179561892 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:179561892C>T ENST00000444136.1 + 2 392 c.142C>T c.(142-144)Ctt>Ttt p.L48F TDRD5_ENST00000294848.8_Missense_Mutation_p.L48F|TDRD5_ENST00000367614.1_Missense_Mutation_p.L48F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 48 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ACTCCGAATCCTTGGGTATCG 0.478000 44 71 0 0 0.000781405 0 0 OR10T2 128360 broad.mit.edu 37 1 158368576 158368576 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:158368576C>T ENST00000334438.1 - 1 680 c.681G>A c.(679-681)ctG>ctA p.L227L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGGGGATCTTCAGGATGGTGT 0.458000 22 34 0 0 0.00047179 0 0 NNMT 4837 broad.mit.edu 37 11 114168772 114168772 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:114168772A>G ENST00000535401.1 + 4 518 c.254A>G c.(253-255)gAc>gGc p.D85G RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.D85G P40261 NNMT_HUMAN nicotinamide N-methyltransferase 85 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) GTCGTCACTGACTACTCAGAC 0.527000 12 40 0 0 0.000422831 0 0 GSX2 170825 broad.mit.edu 37 4 54966537 54966537 + Nonsense_Mutation SNP C C A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:54966537C>A ENST00000326902.2 + 1 340 c.26C>A c.(25-27)tCg>tAg p.S9* FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Nonsense_Mutation_p.S9* NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 9 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) TATGTCGACTCGCTCATCATC 0.647000 8 10 0.000274275 0.00253828 0.000274275 1 0 ZNRF4 148066 broad.mit.edu 37 19 5456123 5456123 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:5456123C>T ENST00000222033.4 + 1 698 c.621C>T c.(619-621)atC>atT p.I207I NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 207 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GGGGCCAGATCGCCATCCCCT 0.682000 34 28 0 0 0.000953801 0 0 TAAR6 319100 broad.mit.edu 37 6 132891606 132891606 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:132891606G>A ENST00000275198.1 + 1 146 c.146G>A c.(145-147)gGa>gAa p.G49E NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 49 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GCTGTGTTTGGAAACCTCCTG 0.527000 29 26 0 0 0.000339439 0 0 HERC2 8924 broad.mit.edu 37 15 28420712 28420712 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:28420712G>A ENST00000261609.7 - 64 9885 c.9777C>T c.(9775-9777)atC>atT p.I3259I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3259 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.I3259I(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCACATGCACGATCTTCTTCC 0.637000 10 9 0 0 0.000978159 0 0 ADD3 120 broad.mit.edu 37 10 111860448 111860448 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:111860448C>T ENST00000277900.8 + 2 402 c.37C>T c.(37-39)Cct>Tct p.P13S ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.P13S|ADD3_ENST00000356080.4_Missense_Mutation_p.P13S NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 13 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GATTACCACTCCTCCTCCTCC 0.433000 12 24 0 0 0.000308642 0 0 ITLN1 55600 broad.mit.edu 37 1 160851073 160851073 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:160851073C>T ENST00000326245.3 - 5 550 c.435G>A c.(433-435)aaG>aaA p.K145K ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 145 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGCCCAGGTCCTTGGCCTGGA 0.597000 19 47 0 0 0.00152264 0 0 LCA5L 150082 broad.mit.edu 37 21 40783685 40783685 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr21:40783685C>T ENST00000358268.2 - 7 1547 c.1019G>A c.(1018-1020)cGa>cAa p.R340Q LCA5L_ENST00000288350.3_Missense_Mutation_p.R340Q|LCA5L_ENST00000380671.2_Missense_Mutation_p.R340Q|WRB_ENST00000541890.1_Intron O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 340 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) TTTAAGTATTCGATGACTATA 0.294000 8 40 0 0 0.000442599 0 0 SHANK2 22941 broad.mit.edu 37 11 70505938 70505938 + Missense_Mutation SNP T T G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:70505938T>G ENST00000338508.4 - 23 2058 c.2059A>C c.(2059-2061)Att>Ctt p.I687L SHANK2_ENST00000357171.3_Missense_Mutation_p.I98L|SHANK2_ENST00000409161.1_Missense_Mutation_p.I97L|SHANK2_ENST00000449833.2_Missense_Mutation_p.I98L|SHANK2_ENST00000449116.2_Missense_Mutation_p.I98L|SHANK2_ENST00000423696.2_Missense_Mutation_p.I307L|SHANK2_ENST00000409530.1_Missense_Mutation_p.I97L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 307 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCTACCTCAATCAAGAAGTCC 0.602000 8 13 0 0 0.000442599 0 0 SYT3 84258 broad.mit.edu 37 19 51135965 51135965 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:51135965C>T ENST00000338916.4 - 2 885 c.252G>A c.(250-252)cgG>cgA p.R84R SYT3_ENST00000600079.1_Silent_p.R84R|SYT3_ENST00000544769.1_Silent_p.R84R|SYT3_ENST00000593901.1_Silent_p.R84R NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 84 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CTCCCTTGTCCCGCCAGGGCA 0.657000 15 34 0 0 0.000422831 0 0 ITGA1 3672 broad.mit.edu 37 5 52216260 52216260 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:52216260C>T ENST00000282588.6 + 17 2712 c.2254C>T c.(2254-2256)Cga>Tga p.R752* NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 752 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CATCACAGTTCGAAAATCAGA 0.378000 15 30 0 0 0.000308642 0 0 UBXN10 127733 broad.mit.edu 37 1 20517722 20517722 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:20517722C>T ENST00000375099.3 + 2 752 c.668C>T c.(667-669)aCc>aTc p.T223I NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 223 UBX. endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 GATTTGCAAACCATTGTTGCT 0.493000 12 71 0 0 0.000219431 0 0 DNAJA3 9093 broad.mit.edu 37 16 4494683 4494683 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:4494683C>T ENST00000262375.6 + 7 1027 c.950C>T c.(949-951)aCc>aTc p.T317I DNAJA3_ENST00000355296.4_Missense_Mutation_p.T317I|DNAJA3_ENST00000431375.2_Missense_Mutation_p.T164I NM_005147.5 NP_005138.3 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 317 activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 GATGGCCAGACCGTGAGGATG 0.572000 7 23 0 0 0.000157383 0 0 SLC10A7 84068 broad.mit.edu 37 4 147204355 147204355 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:147204355G>A ENST00000432059.2 - 9 1043 c.797C>T c.(796-798)tCc>tTc p.S266F SLC10A7_ENST00000335472.7_Missense_Mutation_p.S279F|SLC10A7_ENST00000507030.1_Missense_Mutation_p.S279F|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.S279F Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 279 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) CAATGTAAGGGATTTGTGTGT 0.333000 20 29 0 0 0.00047179 0 0 HCP5 10866 broad.mit.edu 37 6 31431476 31431476 + RNA SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:31431476G>A ENST00000414046.2 + 0 548 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 gcacaggaacgaggccttggg 0.552000 16 44 0 0 0.00074312 0 0 SNORD114-26 767606 broad.mit.edu 37 14 101453405 101453405 + RNA SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr14:101453405G>A ENST00000363543.1 + 0 23 NR_003219.1 GAGCACTGGTGGAGTATGAGT 0.388000 29 35 0 0 0.00178596 0 0 MSLNL 401827 broad.mit.edu 37 16 824895 824895 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:824895C>T ENST00000293892.3 - 7 1676 c.1677G>A c.(1675-1677)ctG>ctA p.L559L MSLNL_ENST00000442466.1_Silent_p.L208L Q96KJ4 MSLNL_HUMAN mesothelin-like 208 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGGCAGCGGTCAGCCGGGGGC 0.692000 8 13 0 0 0.000274275 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787510 73787510 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:73787510G>A ENST00000342056.2 + 5 1216 c.818G>A c.(817-819)gGa>gAa p.G273E KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 273 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGGTACATAGGATTTTTGGTT 0.348000 10 45 0 0 0.000442599 0 0 BTNL8 79908 broad.mit.edu 37 5 180335918 180335918 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:180335918G>A ENST00000231229.4 + 2 616 c.382G>A c.(382-384)Gag>Aag p.E128K BTNL8_ENST00000508408.1_Missense_Mutation_p.E128K|BTNL8_ENST00000340184.4_Missense_Mutation_p.E128K|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 128 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-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) GGCCATCTGGGAGCTACAGGT 0.428000 41 150 0 0 0.000680045 0 0 E2F2 1870 broad.mit.edu 37 1 23836608 23836608 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:23836608G>A ENST00000361729.2 - 7 1504 c.1078C>T c.(1078-1080)Cca>Tca p.P360S NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 360 Poly-Pro.|Transactivation (Potential). G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) GGAGGCGGTGGGGCCTGCTGG 0.642000 10 9 0 0 0.000442599 0 0 TUBA1C 84790 broad.mit.edu 37 12 49666155 49666155 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr12:49666155C>T ENST00000301072.6 + 4 770 c.495C>T c.(493-495)tcC>tcT p.S165S RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.S235S NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 165 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 GCAAGAAGTCCAAGCTGGAGT 0.547000 20 12 0 0 0.00121646 0 0 HAPLN2 60484 broad.mit.edu 37 1 156593853 156593853 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:156593853G>A ENST00000255039.1 + 4 747 c.340G>A c.(340-342)Gtc>Atc p.V114I NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 114 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGCCTCCCTGGTCATCGCGGG 0.687000 9 15 0 0 0.000673444 0 0 CYLC2 1539 broad.mit.edu 37 9 105767612 105767612 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:105767612A>T ENST00000374798.3 + 5 769 c.699A>T c.(697-699)gaA>gaT p.E233D CYLC2_ENST00000487798.1_Missense_Mutation_p.E233D NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 233 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CAGCCATAGAATTACAAGCTG 0.388000 16 20 0 0 0.000422831 0 0 AIFM2 84883 broad.mit.edu 37 10 71873973 71873973 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:71873973G>A ENST00000307864.1 - 9 1296 c.1083C>T c.(1081-1083)gtC>gtT p.V361V AIFM2_ENST00000373248.1_Silent_p.V361V NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 361 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 AGCTCGTAGAGACGAACAGGT 0.602000 9 18 0 0 0.000274275 0 0 ASXL3 80816 broad.mit.edu 37 18 31319761 31319761 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:31319761C>T ENST00000269197.5 + 11 2393 c.2393C>T c.(2392-2394)aCc>aTc p.T798I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 798 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 GAGAACCTTACCTCCCAGCAG 0.473000 11 23 0 0 0.000978159 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900681 151900681 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:151900681G>A ENST00000393900.3 - 3 473 c.120C>T c.(118-120)tcC>tcT p.S40S MAGEA12_ENST00000357916.4_Silent_p.S40S|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S40S NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 40 Poly-Ser. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TAGAGGAGGAGGAGGCAGTCT 0.642000 22 5 0 0 0.000295444 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368401 86368401 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:86368401G>A ENST00000400286.2 - 2 2841 c.2243C>T c.(2242-2244)tCc>tTc p.S748F NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 748 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATCTTGGAAGGATAAAAATTC 0.368000 54 168 0 0 0.000781405 0 0 SCN9A 6335 broad.mit.edu 37 2 167060918 167060918 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:167060918C>T ENST00000303354.6 - 25 4798 c.4458G>A c.(4456-4458)atG>atA p.M1486I SCN9A_ENST00000409435.1_Missense_Mutation_p.M1485I|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1474I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.M1486I Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1485 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCAGCTTTTTCATTGCATTAT 0.308000 29 50 0 0 0.000409698 0 0 LTBP1 4052 broad.mit.edu 37 2 33589287 33589287 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:33589287G>A ENST00000404816.2 + 30 4757 c.4404G>A c.(4402-4404)atG>atA p.M1468I LTBP1_ENST00000407925.1_Missense_Mutation_p.M1142I|LTBP1_ENST00000272273.5_Missense_Mutation_p.M366I|LTBP1_ENST00000404525.1_Missense_Mutation_p.M1089I|LTBP1_ENST00000354476.3_Missense_Mutation_p.M1469I|LTBP1_ENST00000402934.1_Missense_Mutation_p.M1087I|LTBP1_ENST00000390003.4_Missense_Mutation_p.M1143I|LTBP1_ENST00000418533.2_Missense_Mutation_p.M1100I Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1468 EGF-like 16; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTTAAGATATGGATGAATGTC 0.398000 28 38 0 0 0.000692331 0 0 TDRD6 221400 broad.mit.edu 37 6 46659662 46659662 + Missense_Mutation SNP C C T rs146723237 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:46659662C>T ENST00000544460.1 + 1 4051 c.3797C>T c.(3796-3798)cCc>cTc p.P1266L TDRD6_ENST00000316081.6_Missense_Mutation_p.P1266L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1266 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCTGAGACACCCTTGAAAACA 0.358000 28 55 0 0 0.00106085 0 0 CPAMD8 27151 broad.mit.edu 37 19 17013547 17013547 + Silent SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:17013547G>T ENST00000443236.1 - 35 4769 c.4738C>A c.(4738-4740)Cga>Aga p.R1580R NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1533 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CAGTCTCCTCGGGAACCCTCA 0.657000 4 44 0.000602214 0.00553325 0.000602214 1 0 EXD1 161829 broad.mit.edu 37 15 41483766 41483766 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:41483766C>T ENST00000314992.5 - 8 754 c.564G>A c.(562-564)caG>caA p.Q188Q EXD1_ENST00000458580.2_Silent_p.Q246Q NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 188 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 CCATGGAAAACTGAAGTACAT 0.378000 16 16 0 0 0.00188189 0 0 TMEM51 55092 broad.mit.edu 37 1 15546075 15546075 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:15546075C>T ENST00000428417.1 + 3 1044 c.598C>T c.(598-600)Ccg>Tcg p.P200S TMEM51_ENST00000376008.2_Missense_Mutation_p.P200S|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Missense_Mutation_p.P200S|TMEM51_ENST00000376014.3_Missense_Mutation_p.P200S NM_001136217.1 NP_001129689.1 Q9NW97 TMM51_HUMAN transmembrane protein 51 200 integral to membrane breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2) 14 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) ACGACTGAAACCGCTGAAAGT 0.537000 29 33 0 0 0.00127121 0 0 ATP4A 495 broad.mit.edu 37 19 36045841 36045841 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:36045841C>T ENST00000262623.3 - 16 2492 c.2464G>A c.(2464-2466)Gaa>Aaa p.E822K NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 822 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GTGCAGAGTTCGATGAAGAGG 0.562000 12 25 0 0 0.00185496 0 0 CYTIP 9595 broad.mit.edu 37 2 158272256 158272256 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:158272256C>T ENST00000264192.3 - 8 1134 c.1013G>A c.(1012-1014)cGa>cAa p.R338Q CYTIP_ENST00000540637.1_Missense_Mutation_p.R232Q NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 338 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GAGTTGCTTTCGGACACTTCC 0.483000 26 28 0 0 0.00178596 0 0 OSBPL2 9885 broad.mit.edu 37 20 60847181 60847181 + Splice_Site SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:60847181G>A ENST00000313733.3 + 5 461 c.258_splice c.e5-1 p.E87_splice OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Splice_Site_p.E75_splice NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 87 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) ATCTTTCCAGGAGCTGTCCAA 0.597000 7 14 0 0 8.12818e-05 0 0 RASAL3 64926 broad.mit.edu 37 19 15562704 15562704 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:15562704C>T ENST00000343625.6 - 18 3018 c.2938G>A c.(2938-2940)Gat>Aat p.D980N NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 980 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 TGGACAGCATCCCTCAGCTGA 0.607000 8 19 0 0 0.000157383 0 0 CUX1 1523 broad.mit.edu 37 7 101840249 101840249 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:101840249C>T ENST00000360264.3 + 15 1611 c.1591C>T c.(1591-1593)Caa>Taa p.Q531* CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q520*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.Q520*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q520*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q418*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q418*|CUX1_ENST00000393824.3_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 520 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CATATCTTCCCAAAGTCCATT 0.522000 12 57 0 0 0.00136819 0 0 TMEM145 284339 broad.mit.edu 37 19 42818469 42818469 + Nonsense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:42818469C>T ENST00000598766.1 + 2 166 c.166C>T c.(166-168)Cga>Tga p.R56* TMEM145_ENST00000301204.3_Nonsense_Mutation_p.R56*|TMEM145_ENST00000601020.1_3'UTR Q8NBT3 TM145_HUMAN transmembrane protein 145 56 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GGATTACGGCCGACTGGACTT 0.567000 16 66 0 0 0.000566183 0 0 CCDC102B 79839 broad.mit.edu 37 18 66504023 66504023 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:66504023G>A ENST00000360242.5 + 2 140 c.23G>A c.(22-24)cGa>cAa p.R8Q CCDC102B_ENST00000319445.6_Missense_Mutation_p.R8Q|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R8Q|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R8Q|CCDC102B_ENST00000577772.1_3'UTR NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 8 p.R8Q(1) breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TCCATACATCGATTAATTGAG 0.398000 22 30 0 0 0.00152264 0 0 FAM117A 81558 broad.mit.edu 37 17 47788722 47788722 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:47788722C>T ENST00000240364.2 - 8 1336 c.1257G>A c.(1255-1257)cgG>cgA p.R419R RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Silent_p.R147R NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 419 Pro-rich. haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 CCGGATCCTTCCGAGGTGGTG 0.637000 5 30 0 0 0.00116845 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239571 1239571 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:1239571A>T ENST00000324642.3 + 6 862 c.739A>T c.(739-741)Att>Ttt p.I247F SLC6A18_ENST00000296821.4_Intron NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 247 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCAGATGCACATTCTCCAGAA 0.562000 15 53 0 0 0.00074312 0 0 VWA3A 146177 broad.mit.edu 37 16 22130237 22130237 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:22130237G>A ENST00000389398.5 + 12 1101 c.1005G>A c.(1003-1005)cgG>cgA p.R335R VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 335 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) ACACCAGCCGGGACATGGATG 0.607000 10 25 0 0 0.00136819 0 0 DNAJC16 23341 broad.mit.edu 37 1 15892468 15892468 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:15892468C>T ENST00000375847.3 + 12 1817 c.1653C>T c.(1651-1653)ttC>ttT p.F551F DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Silent_p.F551F|DNAJC16_ENST00000375838.1_Silent_p.F551F NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 551 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TCATCCTCTTCGGCACTGTCA 0.428000 153 247 0 0 0.000781405 0 0 FSCN3 29999 broad.mit.edu 37 7 127235784 127235784 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:127235784C>T ENST00000265825.5 + 2 787 c.568C>T c.(568-570)Cac>Tac p.H190Y FSCN3_ENST00000420086.2_Missense_Mutation_p.H56Y NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 190 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 TGGATGCTACCACCTGGAGAC 0.587000 29 35 0 0 0.000409698 0 0 EPHB6 2051 broad.mit.edu 37 7 142568069 142568069 + Missense_Mutation SNP C C G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:142568069C>G ENST00000392957.2 + 18 3497 c.2710C>G c.(2710-2712)Cgg>Ggg p.R904G EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.R627G|EPHB6_ENST00000442129.1_Missense_Mutation_p.R904G NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 904 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.R889W(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGACCGTGCCCGGCGGCCTCA 0.582000 25 90 0 0 0.00106085 0 0 PCLO 27445 broad.mit.edu 37 7 82583769 82583769 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:82583769G>A ENST00000423517.2 - 5 6837 c.6500C>T c.(6499-6501)tCg>tTg p.S2167L PCLO_ENST00000333891.8_Missense_Mutation_p.S2167L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2098 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGAAGGCTCCGAGTAGGTCAA 0.413000 18 60 0 0 0.00188189 0 0 ACSM1 116285 broad.mit.edu 37 16 20638573 20638573 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:20638573C>T ENST00000219151.4 - 11 1528 c.318G>A c.(316-318)aaG>aaA p.K106K ACSM1_ENST00000307493.4_Silent_p.K455K|ACSM1_ENST00000520010.1_Silent_p.K455K Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 455 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding p.K106K(1)|p.K455K(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CTTCATCCATCTTACCTCTGT 0.507000 47 220 0 0 0.000781405 0 0 TSNAX-DISC1 100303453 broad.mit.edu 37 1 231673041 231673041 + Silent SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:231673041A>G ENST00000602962.1 + 3 362 c.204A>G c.(202-204)aaA>aaG p.K68K TSNAX_ENST00000602825.1_3'UTR|TSNAX_ENST00000366639.4_Silent_p.K68K TTGAAAGTAAAAGGACAATTT 0.333000 25 38 0 0 0.00127121 0 0 ZBBX 79740 broad.mit.edu 37 3 167083704 167083704 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:167083704C>T ENST00000392766.2 - 6 583 c.243G>A c.(241-243)atG>atA p.M81I ZBBX_ENST00000455345.2_Missense_Mutation_p.M81I|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.M81I|ZBBX_ENST00000392764.1_Missense_Mutation_p.M52I|ZBBX_ENST00000307529.5_Missense_Mutation_p.M81I NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 81 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTTGTGACATCATATATGATT 0.289000 12 52 0 0 0.000219431 0 0 FRMPD1 22844 broad.mit.edu 37 9 37719095 37719095 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr9:37719095G>A ENST00000539465.1 + 6 1031 c.438G>A c.(436-438)gaG>gaA p.E146E FRMPD1_ENST00000377765.3_Silent_p.E146E|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.E15E|FRMPD1_ENST00000536622.1_5'UTR Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 146 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TCCTGACCGAGGAGAAGAGAG 0.463000 16 15 0 0 0.00074312 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252393 145252393 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:145252393C>T ENST00000377976.1 - 1 138 c.139G>A c.(139-141)Gag>Aag p.E47K NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 47 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGGTATTCCTCCTTTGGTGAC 0.498000 43 49 0 0 0.000781405 0 0 MGAM 8972 broad.mit.edu 37 7 141747655 141747655 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:141747655G>A ENST00000475668.2 + 22 2623 c.2569G>A c.(2569-2571)Gat>Aat p.D857N MGAM_ENST00000549489.2_Missense_Mutation_p.D857N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 857 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTTTTCTGGGATAATGGGGA 0.448000 4 17 0 0 0.00116845 0 0 CCDC37 348807 broad.mit.edu 37 3 126154442 126154442 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:126154442G>A ENST00000393425.1 + 16 1771 c.1672G>A c.(1672-1674)Gag>Aag p.E558K CCDC37_ENST00000352312.1_Missense_Mutation_p.E557K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E558K|CCDC37_ENST00000506204.1_3'UTR Q494V2 CCD37_HUMAN coiled-coil domain containing 37 557 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GATCCTACAGGAGGAGCATCT 0.582000 11 44 0 0 0.00074312 0 0 DUSP13 51207 broad.mit.edu 37 10 76868835 76868835 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:76868835G>A ENST00000372702.3 - 1 144 c.81C>T c.(79-81)ctC>ctT p.L27L DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Silent_p.L27L|DUSP13_ENST00000607009.1_5'UTR Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 27 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTGCCCGCAGGAGCTCCTCCA 0.637000 6 12 0 0 8.12818e-05 0 0 TREH 11181 broad.mit.edu 37 11 118529397 118529397 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:118529397C>T ENST00000529101.1 - 14 1636 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K TREH_ENST00000530256.1_Missense_Mutation_p.E408K|TREH_ENST00000264029.4_Missense_Mutation_p.E531K|TREH_ENST00000397925.1_Missense_Mutation_p.E500K|TREH_ENST00000525958.1_Missense_Mutation_p.E500K O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 531 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) ACCTGAACTTCATATTCTCCT 0.627000 4 0 0 0 0.000602214 0 0 MIOS 54468 broad.mit.edu 37 7 7646670 7646670 + Missense_Mutation SNP A A G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:7646670A>G ENST00000340080.4 + 13 2996 c.2575A>G c.(2575-2577)Atg>Gtg p.M859V MIOS_ENST00000405785.1_Missense_Mutation_p.M859V NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 859 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGTAAATGTATGCAGTTGGA 0.408000 35 39 0 0 0.000437636 0 0 TSSK2 23617 broad.mit.edu 37 22 19119841 19119841 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr22:19119841G>A ENST00000399635.2 + 1 1521 c.929G>A c.(928-930)cGg>cAg p.R310Q DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 310 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CCCGACCACCGGCCCGACCAC 0.642000 12 21 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9083532 9083532 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:9083532G>A ENST00000397910.4 - 1 8486 c.8283C>T c.(8281-8283)ttC>ttT p.F2761F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2761 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 AACTCTGACTGAATACAAGGG 0.498000 9 55 0 0 0.000442599 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815096 106815096 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr8:106815096G>A ENST00000407775.2 + 8 3036 c.2786G>A c.(2785-2787)gGa>gAa p.G929E ZFPM2_ENST00000378472.4_Missense_Mutation_p.G660E|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G797E|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G797E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 929 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCCCCCAATGGAAACTTATTT 0.423000 13 28 0 0 0.000219431 0 0 DPYD 1806 broad.mit.edu 37 1 97658661 97658661 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:97658661C>T ENST00000370192.3 - 20 2686 c.2586G>A c.(2584-2586)ggG>ggA p.G862G DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 862 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GAACTGGTTTCCCTTTCTGGT 0.438000 26 45 0 0 0.000878237 0 0 CHRNA4 1137 broad.mit.edu 37 20 61987436 61987436 + Splice_Site SNP C C T rs146651027 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:61987436C>T ENST00000370263.4 - 4 495 c.273_splice c.e4-1 p.E92_splice CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 92 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCGTGCCACTCCTGGATGAGG 0.697000 4 12 0 0 0.00024832 0 0 EPHB4 2050 broad.mit.edu 37 7 100404068 100404068 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr7:100404068G>A ENST00000358173.3 - 14 2926 c.2458C>T c.(2458-2460)Ccg>Tcg p.P820S EPHB4_ENST00000360620.3_Missense_Mutation_p.P820S NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 820 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TCCCAGTACGGCCTCTCCCCA 0.567000 7 36 0 0 0.000157383 0 0 FGF2 2247 broad.mit.edu 37 4 123797575 123797575 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:123797575C>T ENST00000264498.3 + 2 745 c.677C>T c.(676-678)gCt>gTt p.A226V NM_002006.4 NP_001997.5 P09038 FGF2_HUMAN fibroblast growth factor 2 (basic) 226 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 8 Pentosan Polysulfate(DB00686) AGATTACTGGCTTCTGTAAGC 0.363000 22 36 0 0 0.000375601 0 0 SRRM2 23524 broad.mit.edu 37 16 2815721 2815721 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:2815721C>T ENST00000301740.8 + 11 5741 c.5192C>T c.(5191-5193)tCt>tTt p.S1731F NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1731 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CCCTCAGTGTCTTCCCCGGAG 0.592000 13 15 0 0 0.000308642 0 0 EXO1 9156 broad.mit.edu 37 1 242023851 242023851 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:242023851G>A ENST00000366548.3 + 9 1382 c.789G>A c.(787-789)atG>atA p.M263I EXO1_ENST00000518483.1_Missense_Mutation_p.M263I|EXO1_ENST00000348581.5_Missense_Mutation_p.M263I NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 263 Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ATCTCAAGATGAATATCACGG 0.363000 Editing and processing nucleases 53 70 0 0 0.000781405 0 0 KCNK6 9424 broad.mit.edu 37 19 38817597 38817597 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:38817597C>T ENST00000263372.3 + 2 794 c.687C>T c.(685-687)ccC>ccT p.P229P NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 229 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CTGGCCAGCCCTACCGGGCCC 0.627000 19 47 0 0 0.000375601 0 0 ATP1A3 478 broad.mit.edu 37 19 42482346 42482346 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:42482346G>A ENST00000545399.1 - 13 1955 c.1802C>T c.(1801-1803)gCc>gTc p.A601V ATP1A3_ENST00000602133.1_Missense_Mutation_p.A558V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A599V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A588V NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 588 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GTCAGGGACGGCTGCCCGGGG 0.642000 12 14 0 0 0.000219431 0 0 LILRA1 11024 broad.mit.edu 37 19 55107797 55107797 + Missense_Mutation SNP C C T rs143023552 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:55107797C>T ENST00000251372.3 + 7 1284 c.1102C>T c.(1102-1104)Cgt>Tgt p.R368C LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 368 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGCCCCCCTCCGTCTCAGATC 0.577000 17 49 0 0 0.000958276 0 0 CREBZF 58487 broad.mit.edu 37 11 85375616 85375616 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:85375616G>A ENST00000527447.1 - 1 530 c.304C>T c.(304-306)Ctg>Ttg p.L102L CREBZF_ENST00000398294.2_Silent_p.L20L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 102 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) AGCCCAGACAGAAAGTCCATA 0.711000 32 33 0 0 0.000692331 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730862 140730862 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140730862C>T ENST00000523390.1 + 1 1035 c.1035C>T c.(1033-1035)ttC>ttT p.F345F PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGACATTCATGTCCTTCT 0.443000 8 20 0 0 0.000157383 0 0 DNAH8 1769 broad.mit.edu 37 6 38810452 38810452 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:38810452C>T ENST00000359357.3 + 33 4221 c.3967C>T c.(3967-3969)Cca>Tca p.P1323S DNAH8_ENST00000449981.2_Missense_Mutation_p.P1540S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1323S dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCGTAAACTTCCAAAAGGACT 0.328000 32 56 0 0 0.000491102 0 0 TENM3 55714 broad.mit.edu 37 4 183522260 183522260 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr4:183522260C>T ENST00000511685.1 + 4 818 c.695C>T c.(694-696)tCc>tTc p.S232F TENM3_ENST00000406950.2_Missense_Mutation_p.S232F teneurin transmembrane protein 3 ACACCCGAGTCCGTCCAGCTG 0.532000 33 56 0 0 0.00148497 0 0 OR2B6 26212 broad.mit.edu 37 6 27925712 27925712 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:27925712G>A ENST00000244623.1 + 1 694 c.694G>A c.(694-696)Gaa>Aaa p.E232K NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACAGTCTGCTGAAGGTCGACA 0.438000 37 75 0 0 0.00111076 0 0 INSRR 3645 broad.mit.edu 37 1 156815164 156815164 + Splice_Site SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:156815164C>T ENST00000368195.3 - 11 2612 c.2216_splice c.e11+1 p.R739_splice NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 739 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCTGCTCACCTTTGGGGGCT 0.667000 9 26 0 0 0.000673444 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092777 30092777 + RNA SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:30092777C>T ENST00000567636.1 + 0 1152 NR_003558.1 GAACTGACTCCTCTTCAAGCC 0.438000 12 27 0 0 0.000978159 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069943 57069943 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:57069943G>A ENST00000532437.1 - 6 4984 c.4673C>T c.(4672-4674)tCc>tTc p.S1558F TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1558F Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1558 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTCAATGAAGGAGAAGTCCTG 0.637000 4 5 0 0 0.00024832 0 0 F13A1 2162 broad.mit.edu 37 6 6305692 6305692 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:6305692C>T ENST00000264870.3 - 3 476 c.211G>A c.(211-213)Gaa>Aaa p.E71K NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 71 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTGTTGTTTTCATACTTGTCA 0.453000 24 43 0 0 0.00127121 0 0 BSN 8927 broad.mit.edu 37 3 49662727 49662727 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr3:49662727C>T ENST00000296452.4 + 2 658 c.544C>T c.(544-546)Ccc>Tcc p.P182S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 182 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CACGTCGACCCCCAGCCAGCC 0.592000 8 24 0 0 0.000157383 0 0 TBCD 6904 broad.mit.edu 37 17 80887047 80887047 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:80887047C>T ENST00000355528.4 + 31 2882 c.2752C>T c.(2752-2754)Cgt>Tgt p.R918C TBCD_ENST00000539345.2_Missense_Mutation_p.R918C NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 918 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TGACCGTTTCCGTGCTCACGC 0.607000 14 18 0 0 0.00074312 0 0 UNC5B 219699 broad.mit.edu 37 10 73046583 73046583 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:73046583C>T ENST00000335350.6 + 5 1106 c.690C>T c.(688-690)atC>atT p.I230I UNC5B_ENST00000373192.4_Silent_p.I230I NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 230 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCAAGAACATCGTGGCCAAAC 0.637000 25 55 0 0 0.00178596 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503169 140503169 + Missense_Mutation SNP T T G TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140503169T>G ENST00000194152.1 + 1 1589 c.1589T>G c.(1588-1590)gTg>gGg p.V530G NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGTTCCGCGTGGGCGCCTCA 0.672000 11 49 0 0 0.00136819 0 0 DUSP8 1850 broad.mit.edu 37 11 1578618 1578618 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr11:1578618G>A ENST00000397374.3 - 7 1135 c.1008C>T c.(1006-1008)acC>acT p.T336T DUSP8_ENST00000331588.4_Silent_p.T336T NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 336 Pro-rich.|Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) CGCTCTCTGAGGTAGGTGGTG 0.801000 12 11 0 0 0.000422831 0 0 RCAN2 10231 broad.mit.edu 37 6 46216633 46216633 + Splice_Site SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:46216633C>T ENST00000371374.1 - 3 417 c.225_splice c.e3-1 p.E76_splice RCAN2_ENST00000330430.6_Splice_Site_p.E30_splice|RCAN2_ENST00000306764.7_Splice_Site_p.E76_splice|RCAN2_ENST00000405162.1_Splice_Site_p.E76_splice NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 30 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding p.E30K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TCAAATTTTTCCTGATAAAAA 0.368000 5 27 0 0 0.00116845 0 0 AGAP7 653268 broad.mit.edu 37 10 51465643 51465643 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:51465643C>T ENST00000374095.5 - 7 938 c.813G>A c.(811-813)ggG>ggA p.G271G NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 271 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 TCAGCCATTTCCCACTTCGCT 0.458000 7 142 0 0 0.000978159 0 0 OR1G1 8390 broad.mit.edu 37 17 3030147 3030147 + Silent SNP C C T rs146714964 byFrequency TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:3030147C>T ENST00000328890.2 - 1 728 c.699G>A c.(697-699)ggG>ggA p.G233G NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CTTTCCGCTTCCCCTGAGCTG 0.488000 16 22 0 0 0.00121646 0 0 RASGRF2 5924 broad.mit.edu 37 5 80366339 80366339 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:80366339G>A ENST00000265080.4 + 4 639 c.572G>A c.(571-573)cGa>cAa p.R191Q RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 191 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.R191Q(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ACCAAAGAACGAATGCGACCT 0.423000 15 67 0 0 0.000566183 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761086 121761086 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:121761086G>A ENST00000261367.7 + 7 2611 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000379536.2_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 348 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AATTCACGACGAAAATGGAAA 0.438000 21 95 0 0 0.000586117 0 0 TTN 7273 broad.mit.edu 37 2 179611971 179611971 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:179611971G>A ENST00000360870.5 - 46 15378 c.15156C>T c.(15154-15156)tcC>tcT p.S5052S TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1159 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGGGGTGTGGAGTATCTTT 0.483000 8 27 0 0 0.000157383 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533586 29533586 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr22:29533586C>T ENST00000400338.2 + 6 941 c.888C>T c.(886-888)gtC>gtT p.V296V KREMEN1_ENST00000407188.1_Silent_p.V294V|KREMEN1_ENST00000327813.5_Silent_p.V296V|KREMEN1_ENST00000400335.4_Silent_p.V296V Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 294 CUB. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 CCTTCAACGTCTCTCTGGACT 0.547000 15 30 0 0 0.000422831 0 0 SDK2 54549 broad.mit.edu 37 17 71354325 71354325 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:71354325C>T ENST00000392650.3 - 40 5486 c.5486G>A c.(5485-5487)gGc>gAc p.G1829D SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.G1810D NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1829 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GATGGGCACGCCAGGCGGTCC 0.647000 42 101 0 0 0.000437636 0 0 ACE 1636 broad.mit.edu 37 17 61564371 61564371 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:61564371G>A ENST00000577647.1 + 4 565 c.520G>A c.(520-522)Gaa>Aaa p.E174K ACE_ENST00000290866.4_Missense_Mutation_p.E748K|ACE_ENST00000413513.3_Missense_Mutation_p.E174K|ACE_ENST00000290863.6_Missense_Mutation_p.E174K|ACE_ENST00000490216.2_Missense_Mutation_p.E174K|ACE_ENST00000428043.1_Missense_Mutation_p.E748K|ACE_ENST00000421982.2_Missense_Mutation_p.E58K P12821 ACE_HUMAN angiotensin I converting enzyme 748 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GTTGGATATGGAAACCACCTA 0.592000 40 55 0 0 0.000781405 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181796 140181796 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr5:140181796C>T ENST00000522353.2 + 1 1014 c.1014C>T c.(1012-1014)ctC>ctT p.L338L PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCTACTCGAAATTGTGG 0.398000 31 35 0 0 0.000409698 0 0 ZNF556 80032 broad.mit.edu 37 19 2878181 2878181 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:2878181G>A ENST00000586426.1 + 4 1309 c.1222G>A c.(1222-1224)Ggg>Agg p.G408R ZNF556_ENST00000307635.2_Missense_Mutation_p.G409R Q9HAH1 ZN556_HUMAN zinc finger protein 556 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTTCAGGCGGGCTTTGCTC 0.458000 39 44 0 0 0.000437636 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163784 161163784 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:161163784G>A ENST00000367996.4 - 5 1917 c.1489C>T c.(1489-1491)Ccc>Tcc p.P497S NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 497 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTGTGCGGGCCCGCAGGGT 0.672000 15 22 0 0 0.000566183 0 0 COL4A1 1282 broad.mit.edu 37 13 110826835 110826835 + Missense_Mutation SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:110826835G>A ENST00000375820.4 - 39 3485 c.3364C>T c.(3364-3366)Ctc>Ttc p.L1122F NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1122 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AATCCTGGGAGGCCTTTGTCA 0.493000 13 28 0 0 0.00074312 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399359 89399359 + RNA SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr2:89399359C>T ENST00000479981.1 - 0 370 GGGAGGGTAACTATTATACTG 0.512000 8 30 0 0 0.00136819 0 0 B4GALT5 9334 broad.mit.edu 37 20 48273116 48273116 + Missense_Mutation SNP A A T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:48273116A>T ENST00000371711.4 - 2 426 c.239T>A c.(238-240)gTa>gAa p.V80E NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 80 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) TGAGTCATTTACACTGCTGTT 0.433000 19 199 0 0 0.00047179 0 0 ATP7B 540 broad.mit.edu 37 13 52542601 52542601 + Silent SNP G G A rs138962570 by1000genomes TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:52542601G>A ENST00000242839.4 - 4 1842 c.1686C>T c.(1684-1686)tcC>tcT p.S562S ATP7B_ENST00000418097.2_Silent_p.S562S|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.S451S|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Silent_p.S562S|ATP7B_ENST00000448424.2_Silent_p.S562S NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 562 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TGTTGCCATCGGAGCCTGCGT 0.502000 Wilson disease 7 12 0 0 0.000157383 0 0 LSS 4047 broad.mit.edu 37 21 47627360 47627360 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr21:47627360G>A ENST00000397728.3 - 15 1527 c.1449C>T c.(1447-1449)ctC>ctT p.L483L LSS_ENST00000356396.4_Silent_p.L483L|LSS_ENST00000457828.2_Silent_p.L403L|LSS_ENST00000522411.1_Silent_p.L472L NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 483 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CAGCATCGCAGAGCCGTTCTC 0.612000 4 13 0 0 0.00116845 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687116 68687116 + Silent SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr10:68687116C>T ENST00000361320.4 + 2 1020 c.442C>T c.(442-444)Ctg>Ttg p.L148L 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 3 148 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 GCTGCATTCTCTGGGATCTGA 0.438000 20 91 0 0 0.00188189 0 0 PIK3C3 5289 broad.mit.edu 37 18 39613899 39613899 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr18:39613899C>T ENST00000262039.4 + 16 1903 c.1817C>T c.(1816-1818)cCg>cTg p.P606L PIK3C3_ENST00000593098.1_Missense_Mutation_p.P91L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.P543L NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 606 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 GGAATAATTCCGGAAACAGCT 0.358000 TSP Lung(28;0.18) 15 45 0 0 0.000566183 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79056996 79056996 + Silent SNP G G A TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:79056996G>A ENST00000388820.4 - 20 4530 c.4320C>T c.(4318-4320)tcC>tcT p.S1440S NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1440 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CATCCCGGCCGGAGCTACAGC 0.716000 6 5 0 0 0.00116845 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 3 3 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 3 6 --- --- --- --- CKAP2 26586 broad.mit.edu 37 13 53048016 53048016 + Frame_Shift_Del DEL T T - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr13:53048016delT ENST00000378037.5 + 8 1692 c.1602delT c.(1600-1602)agfs p.S534fs CKAP2_ENST00000490903.1_Frame_Shift_Del_p.S485fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.S533fs NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 534 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) AAGAAGTCAGTATTGAAGATA 0.323 35 42 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974511 93974511 + RNA DEL T T - rs57286078 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr15:93974511delT ENST00000543286.1 + 0 545 GGCTGGGTTCttttttttttt 0.433 5 11 --- --- --- --- WWP2 11060 broad.mit.edu 37 16 69973005 69973005 + Frame_Shift_Del DEL G G - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr16:69973005delG ENST00000359154.2 + 22 2520 c.2419delG c.(2419-2421)ggfs p.G808fs WWP2_ENST00000356003.2_Frame_Shift_Del_p.G808fs|WWP2_ENST00000448661.1_Frame_Shift_Del_p.G808fs|WWP2_ENST00000542271.1_Frame_Shift_Del_p.G692fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Frame_Shift_Del_p.G369fs NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 808 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTGCCCGTCGGGGGATTTGC 0.597 2 4 --- --- --- --- KRT17P1 147228 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 4 5 --- --- --- --- TBC1D17 79735 broad.mit.edu 37 19 50390749 50390750 + Frame_Shift_Del DEL CT CT - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr19:50390749_50390750delCT ENST00000221543.5 + 14 1760_1761 c.1461_1462delCT c.(1459-1464)ggctfs p.GS487fs TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.GS454fs NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 487 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) AGGACTCCGGCTCTCTCTGCTT 0.594 9 18 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50a13ad0-be19-4cd6-8081-ec07e81a25d5 b01288ef-1511-49c4-89f3-8c2e983d5b52 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 6 --- --- --- ---