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 CLCA2 9635 broad.mit.edu 37 1 86898058 86898058 + Silent SNP A A G rs141878978 byFrequency TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr1:86898058A>G ENST00000370565.4 + 5 753 c.591A>G c.(589-591)tcA>tcG p.S197S NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 197 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TTAGGTGTTCATCTGACATCA 0.333 7 87 --- --- --- --- SPR 6697 broad.mit.edu 37 2 73115592 73115592 + Missense_Mutation SNP G G A TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr2:73115592G>A ENST00000234454.5 + 2 527 c.454G>A c.(454-456)Gtg>Atg p.V152M SPR_ENST00000498749.1_3'UTR NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 152 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 CAACAGAACCGTGGTTAACAT 0.562 OREG0014704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 75 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141232707 141232707 + Splice_Site SNP C C T rs77794732 TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr2:141232707C>T ENST00000389484.3 - 60 10596 c.9625G>A c.(9625-9627)Gtc>Atc p.V3209I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3209 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.V3209F(2) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGACCAACCTTTGTGTCTA 0.289 TSP Lung(27;0.18) 13 89 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152381049 152381049 + Missense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr2:152381049C>T ENST00000397345.3 - 152 22556 c.22354G>A c.(22354-22356)Gca>Aca p.A7452T NEB_ENST00000427231.2_Missense_Mutation_p.A7452T|NEB_ENST00000603639.1_Missense_Mutation_p.A7452T|NEB_ENST00000409198.1_Missense_Mutation_p.A5751T|NEB_ENST00000172853.10_Missense_Mutation_p.A5751T|NEB_ENST00000604864.1_Missense_Mutation_p.A7452T NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 5751 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) TGTTTGGCTGCCTGTGTGGCC 0.507 4 129 --- --- --- --- ABCB11 8647 broad.mit.edu 37 2 169826554 169826554 + Splice_Site SNP C C A TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr2:169826554C>A ENST00000263817.6 - 15 1934 c.e15+1 NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTTCCACAAACCTTACTCAGC 0.512 4 87 --- --- --- --- AOX1 316 broad.mit.edu 37 2 201515849 201515849 + Missense_Mutation SNP T T G TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr2:201515849T>G ENST00000374700.2 + 26 3241 c.3000T>G c.(2998-3000)aaT>aaG p.N1000K AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1000 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) ATGCAGAGAATTATTGGAAGA 0.478 10 110 --- --- --- --- SPHKAP 80309 broad.mit.edu 37 2 228860280 228860280 + Missense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr2:228860280C>T ENST00000392056.3 - 8 4625 c.4579G>A c.(4579-4581)Gaa>Aaa p.E1527K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1527 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGTTGTCTTCCTCATTGGCA 0.572 4 133 --- --- --- --- GMPPB 29925 broad.mit.edu 37 3 49760869 49760869 + Missense_Mutation SNP T T G TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr3:49760869T>G ENST00000480687.1 - 3 282 c.166A>C c.(166-168)Atg>Ctg p.M56L GMPPB_ENST00000308388.6_Missense_Mutation_p.M56L|GMPPB_ENST00000308375.6_Missense_Mutation_p.M56L|AMIGO3_ENST00000535833.1_5'UTR Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 56 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACCTGCGACATGTAGCTCACG 0.627 10 64 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79254489 79254489 + Missense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr4:79254489C>T ENST00000264895.6 + 19 2641 c.2201C>T c.(2200-2202)cCt>cTt p.P734L FRAS1_ENST00000325942.6_Missense_Mutation_p.P734L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 734 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GACTGTGGGCCTTCCCATGTG 0.522 10 13 --- --- --- --- TAAR8 83551 broad.mit.edu 37 6 132874168 132874168 + Missense_Mutation SNP G G T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr6:132874168G>T ENST00000275200.1 + 1 337 c.337G>T c.(337-339)Gca>Tca p.A113S NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 113 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CTGTGATGTGGCATTTTGTTA 0.478 6 193 --- --- --- --- RAD54B 25788 broad.mit.edu 37 8 95416419 95416419 + Missense_Mutation SNP T T C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr8:95416419T>C ENST00000336148.5 - 6 954 c.830A>G c.(829-831)aAt>aGt p.N277S NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) ACAGTTCTTATTGAATACCCA 0.353 Direct reversal of damage;Homologous recombination 28 58 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113237027 113237027 + Missense_Mutation SNP G G T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr8:113237027G>T ENST00000297405.5 - 71 11341 c.11097C>A c.(11095-11097)aaC>aaA p.N3699K CSMD3_ENST00000352409.3_Missense_Mutation_p.N3629K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3659K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3530K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3699 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCGTGTTCAAGTTGGGATCAA 0.433 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 54 122 --- --- --- --- PTGS1 5742 broad.mit.edu 37 9 125154632 125154632 + Missense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr9:125154632C>T ENST00000362012.2 + 11 1614 c.1609C>T c.(1609-1611)Ccc>Tcc p.P537S PTGS1_ENST00000223423.4_Missense_Mutation_p.P500S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P428S|PTGS1_ENST00000540753.1_Missense_Mutation_p.P475S NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2 NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 537 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCTAGGGAATCCCATCTGTTC 0.522 6 94 --- --- --- --- SOHLH1 402381 broad.mit.edu 37 9 138591340 138591340 + Translation_Start_Site SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr9:138591340C>T ENST00000298466.5 - 0 34 SOHLH1_ENST00000425225.1_De_novo_Start_InFrame NM_001012415.2 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) AGCGACCCCACGCGCACGGCC 0.677 5 4 --- --- --- --- GPR158 57512 broad.mit.edu 37 10 25464746 25464746 + Missense_Mutation SNP A A C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr10:25464746A>C ENST00000376351.3 + 1 756 c.397A>C c.(397-399)Acc>Ccc p.T133P GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 133 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GACACACGCCACCAACTTCCT 0.652 5 78 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89692911 89692911 + Missense_Mutation SNP G G T rs121909241 TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr10:89692911G>T ENST00000371953.3 + 5 1752 c.395G>T c.(394-396)gGt>gTt p.G132V NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 132 Phosphatase tensin-type. G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACGAACTGGTGTAATGATA 0.398 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 14 51 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123970988 123970988 + Missense_Mutation SNP T T G TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr10:123970988T>G ENST00000369005.1 + 9 7388 c.7048T>G c.(7048-7050)Ttt>Gtt p.F2350V TACC2_ENST00000513429.1_Missense_Mutation_p.F496V|TACC2_ENST00000368999.1_Missense_Mutation_p.F428V|TACC2_ENST00000360561.3_Missense_Mutation_p.F428V|TACC2_ENST00000369000.1_Missense_Mutation_p.F54V|TACC2_ENST00000334433.3_Missense_Mutation_p.F2350V|TACC2_ENST00000369004.3_Missense_Mutation_p.F428V|TACC2_ENST00000453444.2_Missense_Mutation_p.F2354V|TACC2_ENST00000260733.3_Missense_Mutation_p.F428V|TACC2_ENST00000369001.1_Missense_Mutation_p.F54V|TACC2_ENST00000515603.1_Missense_Mutation_p.F2305V|TACC2_ENST00000515273.1_Missense_Mutation_p.F2354V|TACC2_ENST00000358010.1_Missense_Mutation_p.F496V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2350 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TTTTAACCCTTTTTCTTCCAC 0.468 22 152 --- --- --- --- UBQLNL 143630 broad.mit.edu 37 11 5537357 5537357 + Silent SNP G G A TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr11:5537357G>A ENST00000380184.1 - 1 578 c.315C>T c.(313-315)ggC>ggT p.G105G HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 105 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GAGATCTGGAGCCCTGCTTGG 0.542 6 82 --- --- --- --- RAG1 5896 broad.mit.edu 37 11 36597054 36597054 + Missense_Mutation SNP G G C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr11:36597054G>C ENST00000299440.5 + 2 2312 c.2200G>C c.(2200-2202)Gat>Cat p.D734H NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 734 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TACTCTTTGTGATGCCACCCG 0.498 Familial Hemophagocytic Lymphohistiocytosis 10 80 --- --- --- --- PEX16 9409 broad.mit.edu 37 11 45937359 45937359 + Nonsense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr11:45937359C>T ENST00000241041.3 - 4 271 c.254G>A c.(253-255)tGg>tAg p.W85* PEX16_ENST00000378750.5_Nonsense_Mutation_p.W85*|PEX16_ENST00000532681.1_5'UTR|PEX16_ENST00000532554.1_Intron NM_004813.2|NM_057174.2 NP_004804.1|NP_476515 Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 85 ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding large_intestine(2)|lung(2)|ovary(2)|skin(1) 7 GBM - Glioblastoma multiforme(35;0.223) CACGCTCAGCCATGTCAGCAG 0.632 10 128 --- --- --- --- OR4A5 81318 broad.mit.edu 37 11 51412102 51412102 + Missense_Mutation SNP C C A TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr11:51412102C>A ENST00000319760.6 - 1 346 c.294G>T c.(292-294)caG>caT p.Q98H NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CTATAAATAGCTGGCCCATGC 0.433 21 38 --- --- --- --- CATSPER1 117144 broad.mit.edu 37 11 65793293 65793293 + Silent SNP G G A TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr11:65793293G>A ENST00000312106.5 - 1 695 c.558C>T c.(556-558)ccC>ccT p.P186P NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 186 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 ACTCACTGTAGGGATTGGGTC 0.602 5 55 --- --- --- --- TMEM136 219902 broad.mit.edu 37 11 120198157 120198157 + Silent SNP T T C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr11:120198157T>C ENST00000375095.2 + 2 248 c.7T>C c.(7-9)Tta>Cta p.L3L TMEM136_ENST00000529187.1_Silent_p.L25L|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000314475.2_Silent_p.L25L NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1 NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1 Q6ZRR5 TM136_HUMAN transmembrane protein 136 3 integral to membrane endometrium(1)|lung(2)|ovary(1) 4 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) CAGGATGGCATTAGCTCTGTG 0.448 8 68 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711235 6711235 + Missense_Mutation SNP T T C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr12:6711235T>C ENST00000309577.6 - 4 492 c.329A>G c.(328-330)tAt>tGt p.Y110C CHD4_ENST00000544040.1_Missense_Mutation_p.Y103C|CHD4_ENST00000357008.2_Missense_Mutation_p.Y110C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y107C Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 110 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCCAGGAGTATAGTCGCTGCC 0.552 9 39 --- --- --- --- METTL25 84190 broad.mit.edu 37 12 82796857 82796857 + Silent SNP T T C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr12:82796857T>C ENST00000248306.3 + 5 1296 c.1227T>C c.(1225-1227)agT>agC p.S409S METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 GAGTTTGCAGTGTGGGTTGTT 0.393 7 45 --- --- --- --- MDGA2 161357 broad.mit.edu 37 14 47600938 47600938 + Missense_Mutation SNP A A C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr14:47600938A>C ENST00000426342.1 - 5 756 c.10T>G c.(10-12)Ttt>Gtt p.F4V MDGA2_ENST00000439988.3_Missense_Mutation_p.F302V|MDGA2_ENST00000399232.2_Missense_Mutation_p.F233V|MDGA2_ENST00000357362.3_Missense_Mutation_p.F4V NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 233 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GACAGTCTAAACGACACCATC 0.318 32 99 --- --- --- --- GPR114 221188 broad.mit.edu 37 16 57608859 57608859 + Silent SNP A A T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr16:57608859A>T ENST00000340339.4 + 11 1864 c.1341A>T c.(1339-1341)gcA>gcT p.A447A GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Silent_p.A447A NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 447 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 GGGCGGATGCACCAAGTGTCA 0.652 4 29 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9085673 9085673 + Missense_Mutation SNP T T C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr19:9085673T>C ENST00000397910.4 - 1 6345 c.6142A>G c.(6142-6144)Atc>Gtc p.I2048V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2048 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 CAGGAAGTGATTGCATTCCTC 0.483 4 115 --- --- --- --- OR10H3 26532 broad.mit.edu 37 19 15852463 15852463 + Silent SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr19:15852463C>T ENST00000305892.1 + 1 261 c.261C>T c.(259-261)ctC>ctT p.L87L NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTGATCTGCTCTTCACCCATC 0.512 11 294 --- --- --- --- CTC-260F20.3 0 broad.mit.edu 37 19 19627082 19627082 + Missense_Mutation SNP C C T TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr19:19627082C>T ENST00000555938.1 + 1 47 c.35C>T c.(34-36)cCg>cTg p.P12L NDUFA13_ENST00000512771.3_Missense_Mutation_p.P12L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.P12L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.P95L|NDUFA13_ENST00000507754.4_Missense_Mutation_p.P12L|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P12L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000503283.1_Missense_Mutation_p.P12L GACATGCCTCCGCCGGGGGGC 0.617 16 36 --- --- --- --- DYRK1B 9149 broad.mit.edu 37 19 40316880 40316880 + Missense_Mutation SNP G G C TCGA-KK-A8I6-01A-11D-A364-08 TCGA-KK-A8I6-11A-12D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b09465a0-6766-4401-8ab3-1f7b0ba892cd 05ab92d0-9cba-4cd0-9f18-31dd0ef37394 g.chr19:40316880G>C ENST00000593685.1 - 10 1926 c.1458C>G c.(1456-1458)agC>agG p.S486R DYRK1B_ENST00000348817.3_Missense_Mutation_p.S458R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S458R|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S486R|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S446R Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 486 Interaction with RANBP9. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) AATATCGGTTGCTGTAGCGGT 0.612 25 42 --- --- --- ---