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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TGFBR3 7049 broad.mit.edu 37 1 92177890 92177890 + Missense_Mutation SNP G G T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr1:92177890G>T uc001doh.2 - 13 2542 c.2076C>A c.(2074-2076)TTC>TTA p.F692L TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.F650L|TGFBR3_uc001doi.2_Missense_Mutation_p.F691L|TGFBR3_uc001doj.2_Missense_Mutation_p.F691L NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 692 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGACAGGCTTGAAGACAAAGC 0.473 NA 8 67 7.48243e-07 8.55135e-07 0.058154 1 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr1:158592861G>A uc001fst.1 - 43 6231 c.6032C>T c.(6031-6033)GCC>GTC p.A2011V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2011 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483 NA 6 381 0 0 0.02938 0 0 FOSL1 8061 broad.mit.edu 37 11 65660407 65660407 + Nonsense_Mutation SNP C C A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr11:65660407C>A uc001ogg.1 - 4 953 c.766G>T c.(766-768)GGA>TGA p.G256* FOSL1_uc010ros.1_Nonsense_Mutation_p.G154* NM_005438 NP_005429 P15407 FOSL1_HUMAN FOS-like antigen 1 256 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 READ - Rectum adenocarcinoma(159;0.168) GATGGGTCTCCGCTGCTGCTG 0.612 NA 3 42 0.00909568 0.0095744 0.009096 1 0 TMPRSS13 84000 broad.mit.edu 37 11 117784512 117784512 + Silent SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr11:117784512G>A uc001prs.1 - 5 882 c.789C>T c.(787-789)TGC>TGT p.C263C TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.C263C NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 258 Extracellular (Potential).|SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CCAGCTGCTGGCAGGTCTTCT 0.537 NA 13 55 0 0 0.020292 0 0 GPHB5 122876 broad.mit.edu 37 14 63784452 63784452 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:63784452C>T uc010apu.2 - 1 112 c.112G>A c.(112-114)GTG>ATG p.V38M GPHB5_uc001xgc.2_Missense_Mutation_p.V28M NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 38 extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) AACTCCCTCACGGCACAGCCC 0.622 NA 5 47 0 0 0.014758 0 0 SPTB 6710 broad.mit.edu 37 14 65268073 65268073 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:65268073C>T uc001xht.2 - 6 747 c.693G>A c.(691-693)CGG>CGA p.R231R SPTB_uc001xhr.2_Silent_p.R231R|SPTB_uc001xhs.2_Silent_p.R231R|SPTB_uc001xhu.2_Silent_p.R231R NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 231 Actin-binding.|CH 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCAGGTTGTGCCGGGCATTGG 0.602 NA OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 52 0 0 0.004672 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709637 22709637 + Missense_Mutation SNP T T G rs140467724 by1000genomes TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr15:22709637T>G uc010axw.2 - 10 1148 c.250A>C c.(250-252)AAC>CAC p.N84H GOLGA8DP_uc010axx.2_Missense_Mutation_p.N84H|uc010tzw.1_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E 0 CCCATCTGGTTTTTGAGTTTG 0.547 NA 4 180 0 0 0.014758 0 0 C15orf42 90381 broad.mit.edu 37 15 90167027 90167027 + Silent SNP A A C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr15:90167027A>C uc002boe.2 + 20 3486 c.3486A>C c.(3484-3486)TCA>TCC p.S1162S C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1162 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ACTCCTCCTCACCCGGCCATG 0.473 NA 9 109 0 0 0.069234 0 0 NKD1 85407 broad.mit.edu 37 16 50667219 50667219 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr16:50667219G>A uc002egg.1 + 10 1164 c.940G>A c.(940-942)GAC>AAC p.D314N NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 314 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CCAAGGCGTGGACCCGGCCTC 0.632 NA 16 92 0 0 0.038395 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr18:14513675T>C uc010dln.2 - 10 1973 c.1519A>G c.(1519-1521)AAA>GAA p.K507E POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 507 Potential. skin(3) 3 GAATTCATTTTCTTTTCAGCC 0.284 NA 3 62 0 0 0.004672 0 0 EMR1 2015 broad.mit.edu 37 19 6919679 6919679 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr19:6919679G>A uc002mfw.2 + 13 1579 c.1541G>A c.(1540-1542)CGA>CAA p.R514Q EMR1_uc010dvc.2_Missense_Mutation_p.R514Q|EMR1_uc010dvb.2_Missense_Mutation_p.R462Q|EMR1_uc010xji.1_Missense_Mutation_p.R373Q|EMR1_uc010xjj.1_Missense_Mutation_p.R337Q NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 514 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) ATGAATTCTCGAGTCGTTGGG 0.473 NA 18 82 0 0 0.043863 0 0 ZNF420 147923 broad.mit.edu 37 19 37619247 37619247 + Missense_Mutation SNP T T C TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr19:37619247T>C uc002ofl.2 + 5 1569 c.1354T>C c.(1354-1356)TGT>CGT p.C452R NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 452 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTAAAGAATGTGGAAAAAC 0.403 NA 8 42 0 0 0.047766 0 0 SP140L 93349 broad.mit.edu 37 2 231222646 231222646 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr2:231222646C>T uc010fxm.1 + 3 325 c.234C>T c.(232-234)CTC>CTT p.L78L SP140_uc010zma.1_RNA|SP140L_uc010fxn.1_5'UTR NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 78 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1) 1 TTGAGGGCCTCCGCGATCGGG 0.358 NA 36 224 0 0 0.104719 0 0 C2orf57 165100 broad.mit.edu 37 2 232458074 232458074 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr2:232458074G>A uc002vrz.2 + 1 463 c.412G>A c.(412-414)GCG>ACG p.A138T NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 138 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GTCACAAATGGCGAGTGTTCC 0.572 NA 5 78 0 0 0.021553 0 0 SSTR4 6754 broad.mit.edu 37 20 23016703 23016703 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr20:23016703G>A uc002wsr.2 + 1 647 c.583G>A c.(583-585)GCC>ACC p.A195T NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 195 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGGCGGCCAGGCCGTGGCCTG 0.662 Esophageal Squamous(15;850 1104 16640) NA 9 30 0 0 0.105934 0 0 MRPL39 54148 broad.mit.edu 37 21 26965143 26965143 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr21:26965143G>A uc002ylo.2 - 8 916 c.902C>T c.(901-903)TCT>TTT p.S301F MRPL39_uc002yln.2_Missense_Mutation_p.S301F NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 301 mitochondrial ribosome nucleotide binding 0 AACAGGTAAAGACACGCCCTG 0.378 NA 13 54 0 0 0.055883 0 0 PHF21B 112885 broad.mit.edu 37 22 45309828 45309828 + Silent SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr22:45309828C>T uc003bfn.2 - 5 856 c.705G>A c.(703-705)CAG>CAA p.Q235Q PHF21B_uc003bfm.2_Silent_p.Q31Q|PHF21B_uc011aqk.1_Silent_p.Q181Q|PHF21B_uc011aql.1_Silent_p.Q193Q|PHF21B_uc011aqm.1_Silent_p.Q181Q NM_138415 NP_612424 Q96EK2 PF21B_HUMAN PHD finger protein 21B isoform 1 235 zinc ion binding ovary(2)|skin(1) 3 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GCACTTGAGGCTGAATGATGA 0.378 NA 17 95 0 0 0.049695 0 0 KIF9 64147 broad.mit.edu 37 3 47288871 47288871 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr3:47288871C>T uc010hjp.2 - 13 1829 c.1225G>A c.(1225-1227)GAG>AAG p.E409K KIF9_uc003cqx.2_Missense_Mutation_p.E409K|KIF9_uc003cqy.2_Missense_Mutation_p.E409K|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 409 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACGTCGATCTCGTCCAGTGTC 0.592 Colon(44;962 1147 15977 24541) NA 10 59 0 0 0.09319 0 0 AFF1 4299 broad.mit.edu 37 4 87968334 87968334 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr4:87968334C>T uc003hqj.3 + 3 1033 c.626C>T c.(625-627)CCC>CTC p.P209L AFF1_uc011ccx.1_Missense_Mutation_p.P150L|AFF1_uc003hqh.1_Missense_Mutation_p.P216L|AFF1_uc011ccy.1_Missense_Mutation_p.P216L|AFF1_uc011ccz.1_Missense_Mutation_p.P216L|AFF1_uc003hqk.3_Missense_Mutation_p.P209L|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 209 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCCCAGTTCCCCCTTTGTCA 0.522 NA 20 103 0 0 0.043863 0 0 FGA 2243 broad.mit.edu 37 4 155508070 155508070 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr4:155508070C>T uc003iod.1 - 5 569 c.511G>A c.(511-513)GTG>ATG p.V171M FGA_uc003ioe.1_Missense_Mutation_p.V171M|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 171 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCAATGTCCACCTAGAGAGAG 0.393 NSCLC(143;340 1922 20892 22370 48145) NA 14 49 0 0 0.024245 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482147 140482147 + Missense_Mutation SNP C C G rs144773246 byFrequency TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr5:140482147C>G uc003lio.2 + 1 1914 c.1914C>G c.(1912-1914)CAC>CAG p.H638Q uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 638 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCCAAGCACAGGCTGGTGG 0.697 NA 3 49 0 0 0.004672 0 0 SCML4 256380 broad.mit.edu 37 6 108042097 108042097 + Missense_Mutation SNP C C A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr6:108042097C>A uc010kdf.2 - 6 1034 c.783G>T c.(781-783)TTG>TTT p.L261F SCML4_uc003prz.3_Missense_Mutation_p.L203F|SCML4_uc011eam.1_Missense_Mutation_p.L261F|SCML4_uc003pry.3_Missense_Mutation_p.L19F|SCML4_uc003psa.3_Missense_Mutation_p.L232F NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) AGGAGGGGTGCAAGGAGCCCC 0.622 NA 12 64 0.00010058 0.000111755 0.09319 1 0 MED23 9439 broad.mit.edu 37 6 131944569 131944569 + Silent SNP A A G TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr6:131944569A>G uc003qcs.1 - 5 492 c.318T>C c.(316-318)ACT>ACC p.T106T MED23_uc003qcq.2_Silent_p.T106T|MED23_uc003qct.1_Silent_p.T106T|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 106 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CCCACTCAAGAGTGTCAGAGT 0.363 NA 3 108 0 0 0.009096 0 0 VPS13B 157680 broad.mit.edu 37 8 100836132 100836132 + Missense_Mutation SNP A A G TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr8:100836132A>G uc003yiv.2 + 51 9442 c.9331A>G c.(9331-9333)ATA>GTA p.I3111V VPS13B_uc003yiw.2_Missense_Mutation_p.I3086V NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3111 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAAGACTACAATAATCAATAA 0.318 Colon(161;2205 2542 7338 31318) NA 29 113 0 0 0.037714 0 0 TBL1X 6907 broad.mit.edu 37 X 9661224 9661224 + Silent SNP C C T rs142039049 TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:9661224C>T uc010ndq.2 + 10 1295 c.927C>T c.(925-927)GAC>GAT p.D309D TBL1X_uc004csq.3_Silent_p.D258D|TBL1X_uc010ndr.2_Silent_p.D258D|TBL1X_uc004csr.2_Silent_p.D309D|TBL1X_uc004css.2_Silent_p.D260D NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 309 WD 2. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) GTTCATATGACGGTTTTGCAA 0.522 NA 15 103 0 0 0.038395 0 0 NHS 4810 broad.mit.edu 37 X 17394368 17394368 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:17394368G>A uc004cxx.2 + 1 826 c.488G>A c.(487-489)CGC>CAC p.R163H NHS_uc011mix.1_Missense_Mutation_p.R163H NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 163 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) ACCCACCGCCGCGTCTGGGCG 0.716 NA 3 2 0 0 0.004672 0 0 CHM 1121 broad.mit.edu 37 X 85219008 85219008 + Missense_Mutation SNP G G A TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:85219008G>A uc004eet.2 - 5 394 c.364C>T c.(364-366)CAT>TAT p.H122Y CHM_uc011mqz.1_5'UTR NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 122 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) ACAAGAGCATGATTTTTCTGC 0.403 NA 12 60 0 0 0.09319 0 0 L1CAM 3897 broad.mit.edu 37 X 153132164 153132164 + Missense_Mutation SNP C C T TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chrX:153132164C>T uc004fjb.2 - 18 2479 c.2371G>A c.(2371-2373)GTC>ATC p.V791I L1CAM_uc004fjc.2_Missense_Mutation_p.V791I|L1CAM_uc010nuo.2_Missense_Mutation_p.V786I NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 791 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGCTGTTGACGGCCTGGACT 0.632 NA 10 79 0 0 0.069234 0 0 MAX 4149 broad.mit.edu 37 14 65544746 65544748 + In_Frame_Del DEL CCG CCG - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 CCG CCG - - CCG CCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr14:65544746_65544748delCCG uc001xif.1 - 4 348_350 c.178_180delCGG c.(178-180)CGGdel p.R60del MAX_uc001xic.1_Intron|MAX_uc001xie.1_In_Frame_Del_p.R60del|MAX_uc010aql.1_Intron|MAX_uc001xig.1_In_Frame_Del_p.R51del|MAX_uc001xih.1_RNA|MAX_uc001xii.1_In_Frame_Del_p.R51del|MAX_uc001xij.1_In_Frame_Del_p.R60del NM_002382 NP_002373 P61244 MAX_HUMAN MAX protein isoform a 60 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(1) 1 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GGATTTGGGCCCGGGATGCCTGT 0.502 NA 33 28 --- --- --- --- NA NA NA NA NA CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr17:45219612delA uc002ild.3 - 11 1488 c.1361delT c.(1360-1362)CTAfs p.L454fs CDC27_uc002ile.3_Frame_Shift_Del_p.L460fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 454 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 lung(2)|breast(2)|ovary(1) 5 TGCTTTTTGTAGATTAAAGGC 0.308 NA 10 47 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242466 55242474 + In_Frame_Del DEL GAATTAAGA GAATTAAGA - rs121913426 TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 GAATTAAGA GAATTAAGA - - GAATTAAGA GAATTAAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr7:55242466_55242474delGAATTAAGA uc003tqk.2 + 19 2482_2490 c.2236_2244delGAATTAAGA c.(2236-2244)GAATTAAGAdel p.ELR746del EGFR_uc010kzg.1_In_Frame_Del_p.ELR701del|EGFR_uc011kco.1_In_Frame_Del_p.ELR693del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 746_748 Cytoplasmic (Potential).|Protein kinase. R -> P (found in a lung cancer sample).|Missing (found in a lung cancer sample).|Missing (found in a lung cancer sample). 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 p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 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) CGCTATCAAGGAATTAAGAGAAGCAACAT 0.478 E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 26 69 --- --- --- --- NA NA NA NA NA GTF2I 2969 broad.mit.edu 37 7 74114596 74114608 + Frame_Shift_Del DEL CACAGTGGTACCT CACAGTGGTACCT - TCGA-75-6212-01A-11D-1753-08 TCGA-75-6212-10A-01D-1753-08 CACAGTGGTACCT CACAGTGGTACCT - - CACAGTGGTACCT CACAGTGGTACCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0f2af4c9-05a8-4c97-ac2d-af9241b4ea64 20817c66-3be1-4450-8be9-a922838cec1f g.chr7:74114596_74114608delCACAGTGGTACCT uc003uau.2 + 5 763_775 c.393_405delCACAGTGGTACCT c.(391-405)TCCACAGTGGTACCTfs p.S131fs GTF2I_uc003uat.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uav.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uaw.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uay.2_Frame_Shift_Del_p.S131fs|GTF2I_uc003uax.2_Frame_Shift_Del_p.S131fs|uc003uaz.2_RNA NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 131_135 GTF2I-like 1. negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TAGGCAAATCCACAGTGGTACCTGTACCATATG 0.46 NA 11 96 --- --- --- --- NA NA NA NA NA