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 CD44 960 broad.mit.edu 37 11 35232956 35232956 + Silent SNP T T C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr11:35232956T>C ENST00000428726.2 + 14 1893 c.1770T>C c.(1768-1770)acT>acC p.T590T CD44_ENST00000449691.2_Silent_p.T547T|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000437706.2_Intron|CD44_ENST00000434472.2_Silent_p.T277T|CD44_ENST00000433892.2_Silent_p.T341T|CD44_ENST00000433354.2_Silent_p.T562T|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Silent_p.T547T|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 590 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CTGCAGTTACTGTTGGAGATT 0.398000 8 262 0 0 0.038147 0 0 GPATCH1 55094 broad.mit.edu 37 19 33592467 33592467 + Missense_Mutation SNP T T C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr19:33592467T>C ENST00000170564.2 + 9 1381 c.1067T>C c.(1066-1068)tTa>tCa p.L356S NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 356 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TCTAAACCTTTATCTTCTAAG 0.308000 3 93 0 0 0.009096 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 6 26 0 0 0.021553 0 0 HOXC12 3228 broad.mit.edu 37 12 54348806 54348806 + Silent SNP G G T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr12:54348806G>T ENST00000243103.3 + 1 189 c.93G>T c.(91-93)gcG>gcT p.A31A NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 31 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 ACTTCCGCGCGTCCGGGGCGC 0.652000 6 45 5.18039e-06 5.52575e-06 0.038147 1 0 OFD1 8481 broad.mit.edu 37 X 13778527 13778527 + Nonsense_Mutation SNP A A T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chrX:13778527A>T ENST00000380567.1 + 17 2400 c.1528A>T c.(1528-1530)Aga>Tga p.R510* OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Nonsense_Mutation_p.R610*|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R650* O75665 OFD1_HUMAN oral-facial-digital syndrome 1 650 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAAGGCTTTCAGAAGTTACCA 0.478000 42 138 0 0 0.086207 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68248225 68248225 + Missense_Mutation SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr14:68248225A>G ENST00000347230.4 - 22 4532 c.4394T>C c.(4393-4395)cTg>cCg p.L1465P ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L1465P NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1465 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CACGGGAAACAGGTATTGCCA 0.498000 3 157 0 0 0.115264 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83349287 83349287 + Missense_Mutation SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr4:83349287G>A ENST00000295470.5 - 3 833 c.658C>T c.(658-660)Ccc>Tcc p.P220S HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.P101S|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.P101S|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.P220S NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like GCCCTTTTGGGATCTATCAAT 0.373000 6 120 0 0 0.021553 0 0 ANXA1 301 broad.mit.edu 37 9 75775259 75775259 + Silent SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr9:75775259A>G ENST00000376911.1 + 4 1233 c.351A>G c.(349-351)caA>caG p.Q117Q ANXA1_ENST00000257497.6_Silent_p.Q117Q P04083 ANXA1_HUMAN annexin A1 117 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) CTCCAGCGCAATTTGATGCTG 0.428000 3 152 0 0 0.009096 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746748 77746748 + Missense_Mutation SNP C C T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr2:77746748C>T ENST00000409088.3 - 3 661 c.247G>A c.(247-249)Ggc>Agc p.G83S LRRTM4_ENST00000409911.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G84S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G83S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G83S NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 83 integral to membrane p.G83C(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TGGTTAAGGCCGGCAAACTGA 0.403000 4 122 0 0 0.009096 0 0 FAM64A 54478 broad.mit.edu 37 17 6348539 6348539 + Missense_Mutation SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr17:6348539G>A ENST00000572447.1 + 2 218 c.109G>A c.(109-111)Gag>Aag p.E37K FAM64A_ENST00000576056.1_Missense_Mutation_p.E37K|FAM64A_ENST00000572595.2_Missense_Mutation_p.E37K|FAM64A_ENST00000571373.1_Missense_Mutation_p.E37K|FAM64A_ENST00000250056.8_Missense_Mutation_p.E37K|FAM64A_ENST00000570337.2_Missense_Mutation_p.E37K NM_019013.2 NP_061886.2 Q9BSJ6 FA64A_HUMAN family with sequence similarity 64, member A 37 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) CAGCCATCAGGAGACCTCTGT 0.647000 22 32 0 0 0.069288 0 0 LAMA5 3911 broad.mit.edu 37 20 60886750 60886750 + Silent SNP C C T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr20:60886750C>T ENST00000252999.3 - 71 9792 c.9726G>A c.(9724-9726)ccG>ccA p.P3242P NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3242 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGAGCCTCGGGGGCCCCT 0.667000 5 5 0 0 0.021553 0 0 PHEX 5251 broad.mit.edu 37 X 22112115 22112115 + Silent SNP T T G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chrX:22112115T>G ENST00000379374.4 + 7 1312 c.747T>G c.(745-747)ctT>ctG p.L249L PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Silent_p.L249L|PHEX_ENST00000535894.1_Silent_p.L152L NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 249 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 GGGATGCCCTTTACAAGTTCA 0.413000 23 233 0 0 0.091800 0 0 TBC1D5 9779 broad.mit.edu 37 3 17349528 17349528 + Missense_Mutation SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr3:17349528A>G ENST00000253692.7 - 14 2758 c.1094T>C c.(1093-1095)gTa>gCa p.V365A TBC1D5_ENST00000429924.2_Missense_Mutation_p.V317A|TBC1D5_ENST00000446818.2_Missense_Mutation_p.V365A|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.V365A NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 365 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GATATAATCTACTAAACCCAG 0.463000 3 83 0 0 0.115264 0 0 STXBP5 0 broad.mit.edu 37 6 147685192 147685192 + Missense_Mutation SNP C C T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr6:147685192C>T ENST00000367481.3 + 23 2971 c.2863C>T c.(2863-2865)Cgg>Tgg p.R955W STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 991 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding p.R955W(1)|p.R991W(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TACCAATATGCGGATAGCCAG 0.363000 5 296 0 0 0.029380 0 0 NEO1 4756 broad.mit.edu 37 15 73528814 73528814 + Missense_Mutation SNP A A G TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr15:73528814A>G ENST00000339362.5 + 9 1865 c.1418A>G c.(1417-1419)tAc>tGc p.Y473C NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.Y473C|NEO1_ENST00000261908.6_Missense_Mutation_p.Y473C|NEO1_ENST00000558964.1_Missense_Mutation_p.Y473C Q92859 NEO1_HUMAN neogenin 1 473 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AACCTTACCTACTCTGTGTTC 0.562000 4 239 0 0 0.021553 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 100 0 0 0.009096 0 0 PPOX 5498 broad.mit.edu 37 1 161140206 161140206 + Missense_Mutation SNP G G C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr1:161140206G>C ENST00000367999.4 + 10 1261 c.995G>C c.(994-996)gGa>gCa p.G332A PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G77A|PPOX_ENST00000352210.5_Missense_Mutation_p.G332A|PPOX_ENST00000495483.1_3'UTR NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 332 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAGGGATTTGGACATTTGGTG 0.557000 3 104 0 0 0.115264 0 0 CLCN6 1185 broad.mit.edu 37 1 11888618 11888618 + Missense_Mutation SNP G G C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr1:11888618G>C ENST00000346436.6 + 12 1110 c.1058G>C c.(1057-1059)tGt>tCt p.C353S CLCN6_ENST00000376496.3_Missense_Mutation_p.C353S|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331S NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 353 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ACATTCAACTGTCTGAACAAG 0.537000 4 399 0 0 0.014758 0 0 SNHG6 0 broad.mit.edu 37 8 67834750 67834750 + RNA SNP G G A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr8:67834750G>A ENST00000364849.1 - 0 40 SNORD87_ENST00000522478.1_RNA NR_002598.1 ACCTCAGCTGGGTAAACGGCA 0.308000 4 112 0 0 0.009096 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 49 81 0 0 0.139131 0 0 C5orf42 65250 broad.mit.edu 37 5 37169637 37169637 + Missense_Mutation SNP T T A TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr5:37169637T>A ENST00000274258.7 - 34 6716 c.3129A>T c.(3127-3129)ttA>ttT p.L1043F C5orf42_ENST00000425232.2_Missense_Mutation_p.L2163F|C5orf42_ENST00000508244.1_Missense_Mutation_p.L2163F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2163 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTAATTGACATAAAGGAATAC 0.368000 40 63 0 0 0.117977 0 0 KMT2A 4297 broad.mit.edu 37 11 118374769 118374769 + Missense_Mutation SNP A A T TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr11:118374769A>T ENST00000534358.1 + 27 8185 c.8162A>T c.(8161-8163)gAt>gTt p.D2721V KMT2A_ENST00000354520.4_Missense_Mutation_p.D2680V|KMT2A_ENST00000389506.5_Missense_Mutation_p.D2718V NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCACAGTTGGATGGTGTTGAT 0.428000 5 64 0 0 0.021553 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370150 35370151 + Frame_Shift_Ins INS - - C TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr1:35370150_35370151insC ENST00000373347.1 - 3 1102_1103 c.834_835insG c.(832-837)agccccfs p.S278fs DLGAP3_ENST00000235180.4_Frame_Shift_Ins_p.S278fs O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 278 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TCCCCAGGGGGCCTCCCACCCG 0.673 7 162 --- --- --- --- RP11-262H14.3 0 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 4 5 --- --- --- --- ZNF268 10795 broad.mit.edu 37 12 133780834 133780834 + Frame_Shift_Del DEL C C - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr12:133780834delC ENST00000536435.2 + 6 2892 c.2562delC c.(2560-2562)cafs p.H854fs ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.H854fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.H693fs NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 854 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TTCTTGTACACCAGAGAATGC 0.413 2 4 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 5 6 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93976693 93976694 + RNA INS - - GTGT rs61308508 by1000genomes TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr15:93976693_93976694insGTGT ENST00000543286.1 + 0 545 CCTAAAtgtgcgtgtgtgtgtg 0.475 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 10 87 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944580 19944580 + RNA DEL T T - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr19:19944580delT ENST00000591884.1 + 0 520 ATGTTTAATCttttttttttt 0.378 3 5 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 7 220 --- --- --- --- SLC9B1P1 0 broad.mit.edu 37 Y 13501672 13501674 + In_Frame_Del DEL AAT AAT - TCGA-DJ-A13P-01A-11D-A10S-08 TCGA-DJ-A13P-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d67fb1e-4411-4aca-8d9a-f76dad5e03fb 541aed7f-ed74-4214-b7d3-85c7dc551738 g.chrY:13501672_13501674delAAT ENST00000331172.6 - 4 534_536 c.535_537delATT c.(535-537)del p.I179del TCTTACCAACAATATTTGATTCA 0.241 5 2 --- --- --- ---