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 LONRF2 164832 broad.mit.edu 37 2 100903492 100903492 + Missense_Mutation SNP G G C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:100903492G>C uc002tal.4 - 10 2594 c.1954C>G c.(1954-1956)Ctc>Gtc p.L652V LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 652 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GAATCGTGGAGAGCGGCAAGT 0.488000 3 35 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940615 144940615 + Silent SNP G G A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr8:144940615G>A uc003zaa.1 - 0 6820 c.6807C>T c.(6805-6807)acC>acT p.T2269T NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2269 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) TGACGAAGCCGGTGGCCGCCT 0.716000 7 55 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700311 77700311 + Missense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr4:77700311C>T uc011cbx.2 + 10 6925 c.5972C>T c.(5971-5973)aCa>aTa p.T1991I SHROOM3_uc003hkg.3_Missense_Mutation_p.T1769I NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 1991 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ATTTTCCCAACATTAACCTCT 0.448000 4 51 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801027 67801027 + Missense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr13:67801027C>T uc001vik.3 - 1 2238 c.1546G>A c.(1546-1548)Gat>Aat p.D516N PCDH9_uc001vil.3_Missense_Mutation_p.D516N|PCDH9_uc010thl.2_Missense_Mutation_p.D516N|PCDH9_uc001vin.3_Missense_Mutation_p.D516N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA. 516 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CGGTCCAGATCAAAGAAGGAG 0.433000 4 80 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74293735 74293735 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chrX:74293735G>T uc004ebz.3 - 6 940 c.915C>A c.(913-915)taC>taA p.Y305* ABCB7_uc010nlt.3_Nonsense_Mutation_p.Y264*|ABCB7_uc004eca.3_Nonsense_Mutation_p.Y304*|ABCB7_uc011mqn.2_Nonsense_Mutation_p.Y278*|ABCB7_uc010nls.3_Nonsense_Mutation_p.Y265* NM_004299 NP_004290 O75027 ABCB7_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA. 304 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TGAATGCTGTGTATGTACCAA 0.373000 4 55 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68181159 68181159 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr11:68181159C>T uc001ont.3 + 11 2581 c.2506C>T c.(2506-2508)Cag>Tag p.Q836* LRP5_uc009ysg.3_Nonsense_Mutation_p.Q246* NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 836 Beta-propeller 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCATGCAGGTCAGGAGCGGGT 0.607000 4 50 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451448 38451448 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr5:38451448A>G uc003jlc.2 + 19 2945 c.2599A>G c.(2599-2601)Agg>Ggg p.R867G EGFLAM_uc003jlb.2_Missense_Mutation_p.R859G|EGFLAM_uc003jle.2_Missense_Mutation_p.R625G|EGFLAM_uc003jlf.2_Missense_Mutation_p.R225G|EGFLAM_uc003jlg.2_Missense_Mutation_p.R2G NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 867 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse p.G867D(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGTGTTCATGAGGTTTAAAAC 0.473000 3 100 0 0 1 0 0 USP46 64854 broad.mit.edu 37 4 53492228 53492228 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr4:53492228T>C uc003gzn.3 - 3 703 c.518A>G c.(517-519)cAg>cGg p.Q173R USP46_uc003gzm.4_Missense_Mutation_p.Q166R|USP46_uc011bzr.2_Missense_Mutation_p.Q150R|USP46_uc011bzs.2_Missense_Mutation_p.Q57R NM_022832 NP_073743 P62068 UBP46_HUMAN Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA. 173 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) AAGCGTTCCCTGAAAAATCTC 0.383000 3 56 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138374244 138374244 + Missense_Mutation SNP T T A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr3:138374244T>A uc011bmq.2 - 21 3200 c.3200A>T c.(3199-3201)gAc>gTc p.D1067V PIK3CB_uc011bmn.2_Missense_Mutation_p.D579V|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518V|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654V|PIK3CB_uc003est.1_Non-coding_Transcript NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 1067 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.D1067V(2) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGATCTGTAGTCTTTCCGAAC 0.408000 5 65 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77452176 77452177 + Missense_Mutation DNP TC TC AT TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr5:77452176_77452177TC>AT uc003kfj.3 - 13 1503_1504 c.1378_1379GA>AT c.(1378-1380)gaa>ATa p.E460I NM_003664 NP_003655 O00203 AP3B1_HUMAN Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA. 460 endocytosis|melanosome organization Golgi apparatus|clathrin coated vesicle membrane|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AACCACACTTTCAGCAACAACT 0.297000 Hermansky-Pudlak syndrome 7 76 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685767 248685767 + Missense_Mutation SNP G G T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr1:248685767G>T uc001ien.1 + 0 820 c.820G>T c.(820-822)Gtt>Ttt p.V274F NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGAAAGTTTGTTTCTCTTTT 0.438000 9 73 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829670 72829670 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr16:72829670T>C uc002fck.3 - 8 7584 c.6911A>G c.(6910-6912)cAg>cGg p.Q2304R ZFHX3_uc002fcl.3_Missense_Mutation_p.Q1390R NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2304 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCCCTCTCCCTGATTCTCATA 0.443000 3 129 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129905423 129905423 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr10:129905423T>C uc001lke.3 - 12 4876 c.4681A>G c.(4681-4683)Aaa>Gaa p.K1561E MKI67_uc001lkf.3_Missense_Mutation_p.K1201E|MKI67_uc009yav.1_Missense_Mutation_p.K1136E|MKI67_uc009yaw.1_Missense_Mutation_p.K711E NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 1561 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGGTCCAGTTTCTGCACTGGA 0.493000 17 192 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76868831 76868831 + Missense_Mutation SNP G G A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr10:76868831G>A uc001jww.3 - 0 140 c.85C>T c.(85-87)Cgg>Tgg p.R29W SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Missense_Mutation_p.R29W|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR NM_001007272 NP_057448 Q6B8I1 MDSP_HUMAN Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA. 29 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) TTCCCTGCCCGCAGGAGCTCC 0.642000 3 39 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35930194 35930194 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr10:35930194T>C uc001iyz.1 - 0 169 c.164A>G c.(163-165)aAt>aGt p.N55S NM_031866 NP_114072 Q9H461 FZD8_HUMAN Homo sapiens frizzled family receptor 8 (FZD8), mRNA. 55 FZ. T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development Golgi apparatus|cell projection|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GTTGAACTGATTGGGCATGTA 0.617000 3 33 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74878302 74878302 + Missense_Mutation SNP G G A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr17:74878302G>A uc002jti.3 + 1 387 c.284G>A c.(283-285)cGc>cAc p.R95H MGAT5B_uc002jtg.4_Missense_Mutation_p.R84H|MGAT5B_uc002jth.3_Missense_Mutation_p.R84H NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 84 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGGTGAAGCGCATGGACGCA 0.672000 6 21 0 0 1 0 0 RTKN 6242 broad.mit.edu 37 2 74656958 74656958 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:74656958A>G uc002sle.3 - 5 869 c.752T>C c.(751-753)gTt>gCt p.V251A RTKN_uc002slc.3_Missense_Mutation_p.V238A|RTKN_uc002sld.3_Missense_Mutation_p.V201A NM_001015055 NP_001015056 Q9BST9 RTKN_HUMAN Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA. 251 Rho protein signal transduction|apoptosis|regulation of anti-apoptosis intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 GCCTTACCCAACAACTGGGGT 0.602000 4 43 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104071536 104071536 + Silent SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr9:104071536C>T uc004bbb.3 + 4 828 c.429C>T c.(427-429)aaC>aaT p.N143N LPPR1_uc011lvi.2_Silent_p.N119N|LPPR1_uc004bbc.3_Silent_p.N143N|LPPR1_uc010mtc.3_Silent_p.N127N NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 143 integral to membrane catalytic activity TTTTTGTAAACGCCGGACAAG 0.418000 9 71 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245799 167245799 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr3:167245799A>G uc003fev.1 - 10 1661 c.1357T>C c.(1357-1359)Tgt>Cgt p.C453R WDR49_uc003feu.1_Missense_Mutation_p.C278R|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 453 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GAGTTAAGACAGTACTCCTGA 0.353000 7 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 3 55 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225739448 225739448 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:225739448T>C uc010fwz.1 - 8 1191 c.952A>G c.(952-954)Act>Gct p.T318A DOCK10_uc002vob.2_Missense_Mutation_p.T312A|DOCK10_uc002vod.1_Missense_Mutation_p.T318A NM_014689 NP_055504 Q96BY6 DOC10_HUMAN Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA. 318 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CATTCACAAGTTACAGAATTA 0.373000 11 114 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220162111 220162111 + Silent SNP C C G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:220162111C>G uc002vkz.3 - 13 2173 c.1932G>C c.(1930-1932)cgG>cgC p.R644R PTPRN_uc010zlc.2_Silent_p.R554R|PTPRN_uc002vla.3_Silent_p.R615R NM_002846 NP_001186693 Q16849 PTPRN_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA. 644 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GACCCTCTGCCCGGTTGAACA 0.627000 6 56 0 0 1 0 0