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 TRIOBP 11078 broad.mit.edu 37 22 38121968 38121968 + Silent SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr22:38121968A>G ENST00000406386.3 + 7 3660 c.3405A>G c.(3403-3405)ttA>ttG p.L1135L RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1135 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTTCCCTCTTATTCCAGGACC 0.642000 40 49 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43142587 43142587 + Missense_Mutation SNP A A C TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr20:43142587A>C ENST00000342374.4 - 2 291 c.134T>G c.(133-135)aTt>aGt p.I45S SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S|SERINC3_ENST00000468234.1_5'UTR NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 45 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) CAGGAGGAGAATGAAAGCATA 0.448000 30 49 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55268923 55268923 + Missense_Mutation SNP T T G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr7:55268923T>G ENST00000275493.2 + 25 3166 c.2989T>G c.(2989-2991)Ttc>Gtc p.F997V EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 997 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGACTCCAACTTCTACCGTGC 0.522000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 38 71 0 0 1 0 0 TGFB1 7040 broad.mit.edu 37 19 41838078 41838078 + Silent SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr19:41838078G>A ENST00000221930.5 - 6 1835 c.969C>T c.(967-969)ctC>ctT p.L323L NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 323 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) GGCAGGGCCCGAGGCAGAAGT 0.622000 5 41 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897169 175897169 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr4:175897169G>A ENST00000359240.3 + 5 1163 c.493G>A c.(493-495)Gga>Aga p.G165R ADAM29_ENST00000404450.4_Missense_Mutation_p.G165R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G165R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G165R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 165 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.G165R(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CATGAGATCCGGATTTATGCA 0.378000 30 54 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561191 145561191 + Silent SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:145561191G>A ENST00000355594.4 + 10 966 c.879G>A c.(877-879)ccG>ccA p.P293P NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 293 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGAAGACCCGTGCTCGGAGG 0.552000 14 14 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553754 19553754 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr14:19553754G>A ENST00000409832.3 + 1 390 c.338G>A c.(337-339)gGc>gAc p.G113D NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 113 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGGGGGAGCGGCAAGAGCAAA 0.597000 7 845 0 0 1 0 0 MEDAG 84935 broad.mit.edu 37 13 31498491 31498491 + Silent SNP A A T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr13:31498491A>T ENST00000380482.4 + 5 1156 c.831A>T c.(829-831)tcA>tcT p.S277S TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA NM_032849.3 NP_116238.2 mesenteric estrogen-dependent adipogenesis p.S277S(1) CACCCAGATCATCTCTGACAG 0.363000 31 52 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656394 240656394 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:240656394C>T ENST00000318160.4 - 2 648 c.382G>A c.(382-384)Gtc>Atc p.V128I NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 128 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) ACGGAGGTGACGCGCTGGGGC 0.622000 41 40 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 8 46 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73229024 73229024 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr17:73229024G>A ENST00000447371.2 + 14 1395 c.971G>A c.(970-972)cGt>cAt p.R324H NUP85_ENST00000540768.1_Missense_Mutation_p.R95H|NUP85_ENST00000541827.1_Missense_Mutation_p.R446H|NUP85_ENST00000245544.4_Missense_Mutation_p.R492H|NUP85_ENST00000579298.1_Missense_Mutation_p.R447H|NUP85_ENST00000579324.1_Missense_Mutation_p.R380H Q9BW27 NUP85_HUMAN nucleoporin 85kDa 492 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TGGAGCATCCGTGCTAAGGAT 0.567000 8 74 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976367 131976367 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr2:131976367C>T ENST00000356920.5 + 1 486 c.392C>T c.(391-393)cCc>cTc p.P131L PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 131 ATP binding TTCATGGAGCCCAGGTACCAC 0.602000 5 96 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56515973 56515973 + Silent SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr6:56515973G>A ENST00000370754.5 - 10 1184 c.1185C>T c.(1183-1185)taC>taT p.Y395Y DST_ENST00000312431.6_Silent_p.Y217Y|DST_ENST00000421834.2_Silent_p.Y217Y|DST_ENST00000370769.4_Silent_p.Y217Y|DST_ENST00000370788.2_Silent_p.Y217Y|DST_ENST00000361203.3_Silent_p.Y217Y Q03001 DYST_HUMAN dystonin 217 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTCTGCTACGTAAAAAGCAT 0.358000 9 17 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803480 142803480 + RNA SNP T T C TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:142803480T>C ENST00000423385.1 - 0 1485 GATTTTAATATTCTGTACATT 0.343000 4 45 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32069683 32069683 + Missense_Mutation SNP G G T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr5:32069683G>T ENST00000438447.1 + 15 2848 c.2460G>T c.(2458-2460)gaG>gaT p.E820D PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D O15018 PDZD2_HUMAN PDZ domain containing 2 820 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGGTTTCCGAGCAGGAAATGG 0.413000 5 35 0.184627 0.184627 1 1 0 MRGPRX1 259249 broad.mit.edu 37 11 18955897 18955897 + Silent SNP C C G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr11:18955897C>G ENST00000302797.3 - 1 659 c.435G>C c.(433-435)ctG>ctC p.L145L MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 145 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGGCCCAGAGCAGGACACACA 0.597000 28 25 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 47 0 0 1 0 0 MTCH2 23788 broad.mit.edu 37 11 47660327 47660327 + Missense_Mutation SNP C C T rs140836301 byFrequency TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr11:47660327C>T ENST00000302503.3 - 3 360 c.203G>A c.(202-204)cGc>cAc p.R68H MTCH2_ENST00000542981.1_5'UTR NM_014342.3 NP_055157.1 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 68 R -> S (in dbSNP:rs34072236). transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 GAACAACCCGCGCCTCCCATC 0.423000 23 22 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 6 65 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877697 130877697 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr2:130877697G>A ENST00000357462.5 - 1 485 c.392C>T c.(391-393)cCc>cTc p.P131L POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 131 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GTGGTACCTGGGCTCCATGAA 0.592000 38 60 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967195 4967195 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chrY:4967195G>A ENST00000333703.4 + 5 2056 c.1543G>A c.(1543-1545)Gac>Aac p.D515N PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D526N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D526N NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 526 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AACGGATGCAGACAGTGGGCC 0.473000 15 40 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108469017 108469017 + Missense_Mutation SNP G G T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr10:108469017G>T ENST00000263054.6 - 7 1114 c.1107C>A c.(1105-1107)gaC>gaA p.D369E SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 369 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CAATCAAAGAGTCTGGGTCAA 0.388000 30 49 3.99451e-17 4.44672e-17 1 1 0 COL19A1 1310 broad.mit.edu 37 6 70854121 70854121 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr6:70854121G>A ENST00000322773.4 + 24 1748 c.1646G>A c.(1645-1647)gGt>gAt p.G549D COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 549 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGAGAACATGGTATCCCAGGA 0.358000 5 160 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238698 3238698 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chrX:3238698C>T ENST00000217939.6 - 5 5182 c.5028G>A c.(5026-5028)ttG>ttA p.L1676L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1676 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGACATGTGCAATGGGAGAG 0.418000 14 141 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 6 29 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 6 65 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42267091 42267091 + Missense_Mutation SNP C C A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr13:42267091C>A ENST00000379310.3 - 30 3650 c.3582G>T c.(3580-3582)ttG>ttT p.L1194F VWA8_ENST00000478987.1_5'UTR NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TAGTATCTAACAACAGGATAA 0.383000 10 23 2.74318e-10 2.89014e-10 1 1 0 ESPNP 0 broad.mit.edu 37 1 17026476 17026476 + RNA SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:17026476C>T ENST00000492551.1 - 0 1209 NR_026567.1 CGGCTGGAGTCCTGCCTCCGT 0.736000 3 15 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46492135 46492135 + Missense_Mutation SNP G G T rs141357150 by1000genomes TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr3:46492135G>T ENST00000231751.4 - 7 1027 c.732C>A c.(730-732)gaC>gaA p.D244E LTF_ENST00000426532.2_Missense_Mutation_p.D200E|LTF_ENST00000417439.1_Missense_Mutation_p.D244E NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 244 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) ACTCATACTCGTCCCTTTCAG 0.562000 62 79 4.96364e-44 5.63183e-44 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22363305 22363305 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr19:22363305G>A ENST00000397121.2 - 3 1531 c.1214C>T c.(1213-1215)tCc>tTc p.S405F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GAGCTTTGAGGATGAGTTGGA 0.423000 50 73 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155253687 155253687 + Missense_Mutation SNP G G T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr4:155253687G>T ENST00000357232.3 - 9 2175 c.2176C>A c.(2176-2178)Cag>Aag p.Q726K DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 726 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TATAATAGCTGTCCATTCTTT 0.383000 35 37 4.65686e-17 5.08805e-17 1 1 0 KDM4B 23030 broad.mit.edu 37 19 5039897 5039897 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr19:5039897C>T ENST00000159111.4 + 4 410 c.192C>T c.(190-192)gaC>gaT p.D64D KDM4B_ENST00000536461.1_Silent_p.D64D|KDM4B_ENST00000381759.4_Silent_p.D64D NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 64 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ATGACATCGACGACGTGGTGA 0.612000 23 56 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84205796 84205796 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr9:84205796C>T ENST00000376499.3 - 16 2817 c.1753G>A c.(1753-1755)Gat>Aat p.D585N NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 585 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ACCTTGGAATCGGGGCTGATG 0.607000 40 50 0 0 1 0 0 KDM5D 8284 broad.mit.edu 37 Y 21883102 21883102 + Silent SNP C C A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chrY:21883102C>A ENST00000541639.1 - 13 1847 c.1560G>T c.(1558-1560)gtG>gtT p.V520V KDM5D_ENST00000382806.2_Silent_p.V432V|KDM5D_ENST00000317961.4_Silent_p.V489V NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 489 JmjC. chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) ACAGCCAGGGCACCTTCATGC 0.478000 25 6 1.66031e-10 1.78105e-10 1 1 0 ABRA 137735 broad.mit.edu 37 8 107782091 107782091 + Missense_Mutation SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr8:107782091A>G ENST00000311955.3 - 1 382 c.328T>C c.(328-330)Tcc>Ccc p.S110P NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 110 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) ACCGTTTTGGACACCTCTTTC 0.562000 5 61 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070695 141070695 + RNA SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr9:141070695G>A ENST00000503395.1 + 0 1470 p.R105H(1) GCCAAGGGACGCTACACCGAA 0.592000 3 15 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129031 68129031 + Missense_Mutation SNP G G A TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr17:68129031G>A ENST00000585558.1 + 4 1296 c.908G>A c.(907-909)cGc>cAc p.R303H KCNJ16_ENST00000283936.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R307H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R268H Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 268 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) GCCCTTGACCGCAAAGCAGTA 0.428000 4 180 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 52 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43706090 43706090 + Missense_Mutation SNP A A G TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr21:43706090A>G ENST00000398437.1 + 9 1545 c.1397A>G c.(1396-1398)aAc>aGc p.N466S ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 320 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) ACCTACCACAACCCAGCAGAT 0.517000 74 81 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9538335 9538335 + Missense_Mutation SNP C C G rs34102290 TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr20:9538335C>G ENST00000378429.3 - 8 2209 c.1663G>C c.(1663-1665)Gct>Cct p.A555P PAK7_ENST00000378423.1_Missense_Mutation_p.A555P|PAK7_ENST00000353224.5_Missense_Mutation_p.A555P NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 555 Protein kinase. A -> S (in dbSNP:rs34102290). ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TAGGAGAGAGCTCTCAGAACT 0.423000 29 47 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205033529 205033529 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:205033529C>T ENST00000331830.4 + 11 1604 c.1320C>T c.(1318-1320)tgC>tgT p.C440C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 440 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTATCCCCTGCCAGCCCCGGG 0.637000 4 185 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725832 55725832 + Silent SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr12:55725832C>T ENST00000379667.1 + 1 348 c.348C>T c.(346-348)tcC>tcT p.S116S NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CTGCCATGTCCTATGACCGCT 0.438000 53 74 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100701287 100701287 + Nonsense_Mutation SNP C C T rs148704443 TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr7:100701287C>T ENST00000306151.4 + 13 13508 c.13444C>T c.(13444-13446)Cga>Tga p.R4482* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4482 R -> Q (in dbSNP:rs9656065). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTTTCAGATCCGAATTCAGAG 0.473000 12 33 0 0 1 0 0 SRSF12 135295 broad.mit.edu 37 6 89814872 89814872 + Missense_Mutation SNP C C T TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr6:89814872C>T ENST00000452027.2 - 4 575 c.382G>A c.(382-384)Gga>Aga p.G128R NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 128 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 CTATTTCTTCCCCATGAAGAA 0.383000 4 11 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 44 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034614 17034615 + RNA INS - - CC TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr1:17034614_17034615insCC ENST00000492551.1 - 0 194 NR_026567.1 TCAGCGCCTCACCCCCTCCGAG 0.728 2 4 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 8 51 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 8 --- --- --- --- ZNF285 26974 broad.mit.edu 37 19 44891010 44891010 + Frame_Shift_Del DEL G G - rs150792548 byFrequency TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chr19:44891010delG ENST00000330997.4 - 4 1461 c.1397delC c.(1396-1398)ggfs p.A466fs ZNF285_ENST00000544719.2_Frame_Shift_Del_p.A466fs|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.A473fs|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 p.A466G(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 AGAGCTATACGCAAAATCCTT 0.418 8 79 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129148368 129148369 + Frame_Shift_Ins INS - - C TCGA-YL-A8SP-01B-11D-A377-08 TCGA-YL-A8SP-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8746255-e8ec-4692-8a09-0a6438f5efa6 5d447810-0a8c-4047-90aa-835f4f42134d g.chrX:129148368_129148369insC ENST00000540052.1 + 3 1664_1665 c.1620_1621insC c.(1618-1623)gcccgafs p.R541fs BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.R541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.R541fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.R541fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 541 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCCAGCCTGCACCCGATGGGGT 0.624 7 105 --- --- --- ---