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 C1orf177 163747 broad.mit.edu 37 1 55280638 55280638 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr1:55280638G>A uc001cyb.3 + 8 1030 c.976G>A c.(976-978)GTC>ATC p.V326I C1orf177_uc001cya.3_Missense_Mutation_p.V326I NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 326 0 ATGCAAACCCGTCAACCAGCC 0.552 FCRL4 83417 broad.mit.edu 37 1 157551332 157551332 + Missense_Mutation SNP C T T rs150354637 TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr1:157551332C>T uc001fqw.2 - 7 1374 c.1238G>A c.(1237-1239)CGG>CAG p.R413Q FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 413 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TGACTTCCTCCGACGCCAGCA 0.602 PAPPA2 60676 broad.mit.edu 37 1 176661413 176661413 + Silent SNP T C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr1:176661413T>C uc001gkz.2 + 6 3747 c.2583T>C c.(2581-2583)ACT>ACC p.T861T PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 861 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGTCCCTCACTATCCACTGGC 0.502 RAB3GAP2 25782 broad.mit.edu 37 1 220335581 220335581 + Missense_Mutation SNP A C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr1:220335581A>C uc010puk.1 - 28 3348 c.3184T>G c.(3184-3186)TTA>GTA p.L1062V RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.L6V NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 1062 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CTTTTAACTAAGAACGTATTC 0.284 ARMC3 219681 broad.mit.edu 37 10 23297794 23297794 + Missense_Mutation SNP A G G TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr10:23297794A>G uc001irm.3 + 16 2062 c.1979A>G c.(1978-1980)AAA>AGA p.K660R ARMC3_uc010qcv.1_Missense_Mutation_p.K653R|ARMC3_uc010qcw.1_Missense_Mutation_p.K397R NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 660 binding 0 ATAGAAGACAAATCAGAGCCA 0.378 PTEN 5728 broad.mit.edu 37 10 89711900 89711900 + Missense_Mutation SNP G A A rs121913294 TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr10:89711900G>A uc001kfb.2 + 7 1549 c.518G>A c.(517-519)CGC>CAC p.R173H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 173 Phosphatase tensin-type. R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4). 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.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 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) AGTCAGAGGCGCTATGTGTAT 0.348 R173H(RL952_ENDOMETRIUM) 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) ST5 6764 broad.mit.edu 37 11 8752166 8752166 + Frame_Shift_Del DEL C - - TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr11:8752166delC uc001mgt.2 - 3 857 c.671delG c.(670-672)GGCfs p.G224fs ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 224 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCTCCGGAGGCCCTTGAAATC 0.642 OR8J3 81168 broad.mit.edu 37 11 55904404 55904404 + Missense_Mutation SNP G C C rs143365733 byFrequency TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr11:55904404G>C uc010riz.1 - 1 791 c.791C>G c.(790-792)ACC>AGC p.T264S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TGAGTGGTTGGTTTGGGGCTG 0.428 SLC22A20 440044 broad.mit.edu 37 11 64981482 64981482 + Missense_Mutation SNP C A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr11:64981482C>A uc010roc.1 + 1 136 c.133C>A c.(133-135)CCC>ACC p.P45T SLC22A20_uc010rob.1_Missense_Mutation_p.P45T NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 45 Extracellular (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 GGCCGCTGTCCCCCCCCACCA 0.692 TIGD3 220359 broad.mit.edu 37 11 65124539 65124539 + Missense_Mutation SNP C G G TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr11:65124539C>G uc001odo.3 + 2 1423 c.1260C>G c.(1258-1260)GAC>GAG p.D420E NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 420 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 AGAAGGGGGACAGAGAGGGTG 0.587 ITGB7 3695 broad.mit.edu 37 12 53590514 53590514 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr12:53590514C>T uc009zmv.2 - 5 736 c.665G>A c.(664-666)CGC>CAC p.R222H ITGB7_uc001scc.2_Missense_Mutation_p.R222H|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 222 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 TGACTGGCAGCGCTCCAGCCG 0.622 LHFP 10186 broad.mit.edu 37 13 40175282 40175282 + Silent SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr13:40175282G>A uc001uxf.2 - 2 583 c.72C>T c.(70-72)TGC>TGT p.C24C NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 24 integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) AGAACCCCACGCAGGAGGTGG 0.537 T HMGA2 lipoma C14orf182 283551 broad.mit.edu 37 14 50472507 50472507 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr14:50472507C>T uc001wxi.1 - 1 1732 c.11G>A c.(10-12)CGG>CAG p.R4Q NM_001012706 NP_001012724 A1A4T8 CN182_HUMAN hypothetical protein LOC283551 4 0 GGTTGCCATCCGACCTGTCAT 0.507 TDRD9 122402 broad.mit.edu 37 14 104493271 104493271 + Missense_Mutation SNP T C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr14:104493271T>C uc001yom.3 + 28 3307 c.3277T>C c.(3277-3279)TCC>CCC p.S1093P TDRD9_uc001yon.3_Missense_Mutation_p.S831P NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 1093 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GTCCTACGAGTCCAAGGTGTG 0.582 PLCB2 5330 broad.mit.edu 37 15 40596215 40596215 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr15:40596215G>A uc001zld.2 - 2 450 c.149C>T c.(148-150)ACG>ATG p.T50M PLCB2_uc010bbo.2_Missense_Mutation_p.T50M|PLCB2_uc010ucm.1_Missense_Mutation_p.T50M|PLCB2_uc001zle.3_Missense_Mutation_p.T50M NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 50 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) ACTTTGATACGTCCAGTATAA 0.527 RPAP1 26015 broad.mit.edu 37 15 41810014 41810014 + Silent SNP T C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr15:41810014T>C uc001zod.2 - 24 4138 c.4014A>G c.(4012-4014)ACA>ACG p.T1338T RPAP1_uc001zoc.2_Silent_p.T357T NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1338 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CCAGCAGCCATGTTTTCTGCA 0.562 ABCC1 4363 broad.mit.edu 37 16 16225756 16225756 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr16:16225756C>T uc010bvi.2 + 27 4105 c.3930C>T c.(3928-3930)CTC>CTT p.L1310L ABCC1_uc010bvj.2_Silent_p.L1251L|ABCC1_uc010bvk.2_Silent_p.L1254L|ABCC1_uc010bvl.2_Silent_p.L1310L|ABCC1_uc010bvm.2_Silent_p.L1195L|ABCC1_uc002del.3_Silent_p.L1204L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1310 ABC transporter 2.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACTTCGTTCTCAGGCACATCA 0.607 RLTPR 146206 broad.mit.edu 37 16 67683169 67683169 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr16:67683169C>T uc002etn.2 + 19 1821 c.1701C>T c.(1699-1701)GAC>GAT p.D567D RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.1_Silent_p.D531D NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 567 LRR 12. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) AGACCCTGGACGACGTCCTGC 0.637 DRG2 1819 broad.mit.edu 37 17 18007951 18007951 + Missense_Mutation SNP A T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:18007951A>T uc002gsh.1 + 11 965 c.910A>T c.(910-912)ACA>TCA p.T304S DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.T304S NM_001388 NP_001379 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 304 signal transduction GTP binding ovary(1) 1 all_neural(463;0.228) GCCAGACTTCACAGACGCCAT 0.607 FAM18B 51030 broad.mit.edu 37 17 18708852 18708852 + Splice_Site SNP A G G rs2589696 TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:18708852A>G uc002gum.2 + 7 617 c.592_splice c.e7-2 p.N198_splice FAM18B_uc002gun.2_Splice_Site_p.N134_splice NM_016078 NP_057162 Q9NYZ1 F18B1_HUMAN hypothetical protein LOC51030 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967) TGTCTTTTGCAGAACACTGGA 0.368 SLFN12 55106 broad.mit.edu 37 17 33749828 33749828 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:33749828C>T uc002hji.3 - 2 597 c.220G>A c.(220-222)GGA>AGA p.G74R SLFN12_uc002hjj.3_Missense_Mutation_p.G74R|SLFN12_uc010cts.2_Missense_Mutation_p.G74R NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 74 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTCCTATTCCATCTTTTGTA 0.363 SLFN12 55106 broad.mit.edu 37 17 33749831 33749831 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:33749831C>T uc002hji.3 - 2 594 c.217G>A c.(217-219)GAT>AAT p.D73N SLFN12_uc002hjj.3_Missense_Mutation_p.D73N|SLFN12_uc010cts.2_Missense_Mutation_p.D73N NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 73 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTATTCCATCTTTTGTATAA 0.368 LYZL6 57151 broad.mit.edu 37 17 34261842 34261842 + Silent SNP G T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:34261842G>T uc002hkj.1 - 4 555 c.405C>A c.(403-405)GGC>GGA p.G135G LYZL6_uc002hkk.1_Silent_p.G135G NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 135 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAGTGGCCGGCCTGAACAGT 0.537 HOXB9 3219 broad.mit.edu 37 17 46703491 46703491 + Missense_Mutation SNP G C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:46703491G>C uc002inx.2 - 1 345 c.141C>G c.(139-141)TTC>TTG p.F47L NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 47 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGCACGAGGGGAACTCCAGGT 0.687 HOXB9 3219 broad.mit.edu 37 17 46703538 46703538 + Nonsense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:46703538G>A uc002inx.2 - 1 298 c.94C>T c.(94-96)CAG>TAG p.Q32* NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 32 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTCGCGTACTGGCCAGAAGGA 0.622 CACNG1 786 broad.mit.edu 37 17 65041001 65041001 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:65041001C>T uc002jfu.2 + 1 296 c.225C>T c.(223-225)CCC>CCT p.P75P NM_000727 NP_000718 Q06432 CCG1_HUMAN voltage-dependent calcium channel gamma-1 75 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) TCACCCTGCCCGGGGGTAACG 0.637 KIF19 124602 broad.mit.edu 37 17 72345359 72345359 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr17:72345359G>A uc002jkm.3 + 10 1222 c.1084G>A c.(1084-1086)GCC>ACC p.A362T KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 362 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CTACCACATCGCCCAGTACAC 0.642 LAMA1 284217 broad.mit.edu 37 18 6978310 6978310 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr18:6978310C>T uc002knm.2 - 43 6169 c.6075G>A c.(6073-6075)ACG>ACA p.T2025T LAMA1_uc010wzj.1_Silent_p.T1501T NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2025 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTCCCTCAGCGTGCTCACCG 0.537 SETBP1 26040 broad.mit.edu 37 18 42530386 42530386 + Missense_Mutation SNP G T T rs146321232 TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr18:42530386G>T uc010dni.2 + 4 1377 c.1081G>T c.(1081-1083)GCA>TCA p.A361S NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 361 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGCCCAGAAAGCATTTGACAA 0.478 Schinzel-Giedion_syndrome ZNF254 9534 broad.mit.edu 37 19 24309636 24309636 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr19:24309636C>T uc002nru.2 + 4 968 c.834C>T c.(832-834)TCC>TCT p.S278S ZNF254_uc010xrk.1_Silent_p.S193S NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 278 C2H2-type 3. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TTAATCGATCCTCAAATCTTA 0.378 MEGF8 1954 broad.mit.edu 37 19 42861568 42861568 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr19:42861568G>A uc002otl.3 + 27 5277 c.4642G>A c.(4642-4644)GTG>ATG p.V1548M MEGF8_uc002otm.3_Missense_Mutation_p.V1156M NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1615 Extracellular (Potential).|Kelch 8. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CCCCCAGACCGTGGAGCTGCC 0.652 DUXA 503835 broad.mit.edu 37 19 57669795 57669795 + Silent SNP T C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr19:57669795T>C uc002qoa.1 - 4 384 c.339A>G c.(337-339)TTA>TTG p.L113L NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 113 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TGAGAGTGTGTAACTGAGAGG 0.488 OTOF 9381 broad.mit.edu 37 2 26686908 26686908 + Missense_Mutation SNP C T T rs143889717 TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr2:26686908C>T uc002rhk.2 - 40 5154 c.5027G>A c.(5026-5028)CGC>CAC p.R1676H OTOF_uc010yla.1_Missense_Mutation_p.R406H|OTOF_uc002rhh.2_Missense_Mutation_p.R909H|OTOF_uc002rhi.2_Missense_Mutation_p.R986H|OTOF_uc002rhj.2_Missense_Mutation_p.R909H NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1676 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGCCTGCGCGGGGGATGTC 0.667 TTN 7273 broad.mit.edu 37 2 179463526 179463526 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr2:179463526C>T uc010zfg.1 - 240 49431 c.49207G>A c.(49207-49209)GTG>ATG p.V16403M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10098M|TTN_uc010zfi.1_Missense_Mutation_p.V10031M|TTN_uc010zfj.1_Missense_Mutation_p.V9906M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17330 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGGACCCACGCCAGCAGCA 0.428 CPS1 1373 broad.mit.edu 37 2 211469880 211469880 + Missense_Mutation SNP G C C TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr2:211469880G>C uc002vee.3 + 17 2023 c.1891G>C c.(1891-1893)GAA>CAA p.E631Q CPS1_uc010fur.2_Missense_Mutation_p.E637Q|CPS1_uc010fus.2_Missense_Mutation_p.E180Q NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 631 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGGTTGGAAAGAAATAGAATA 0.408 COL4A4 1286 broad.mit.edu 37 2 227917071 227917071 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr2:227917071G>A uc010zlt.1 - 32 3572 c.2918C>T c.(2917-2919)ACA>ATA p.T973I NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 973 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTCCCCAGGTGTTCCCTTTTG 0.403 TASP1 55617 broad.mit.edu 37 20 13514755 13514755 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr20:13514755C>T uc002woi.2 - 9 826 c.709G>A c.(709-711)GCT>ACT p.A237T TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.A214T|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 237 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 ACAACCACAGCGCCTACCGTG 0.507 REM1 28954 broad.mit.edu 37 20 30070268 30070268 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr20:30070268G>A uc002wwa.2 + 4 886 c.602G>A c.(601-603)CGC>CAC p.R201H NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 201 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GACTTGGCCCGCTGCCGAGAA 0.612 TRPM2 7226 broad.mit.edu 37 21 45826547 45826547 + Missense_Mutation SNP C A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr21:45826547C>A uc002zet.1 + 20 3074 c.2861C>A c.(2860-2862)GCC>GAC p.A954D TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc010gpt.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 954 Helical; (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCCAAGCAGGCCATCCTCATC 0.607 CNTN6 27255 broad.mit.edu 37 3 1427473 1427473 + Missense_Mutation SNP A G G rs143460057 TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr3:1427473A>G uc003boz.2 + 20 2963 c.2696A>G c.(2695-2697)AAA>AGA p.K899R CNTN6_uc011asj.1_Missense_Mutation_p.K827R|CNTN6_uc003bpa.2_Missense_Mutation_p.K899R NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 899 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTTACCACCAAAAAGTCTCGT 0.453 CCR5 1234 broad.mit.edu 37 3 46414783 46414783 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr3:46414783C>T uc003cpo.3 + 3 512 c.390C>T c.(388-390)GTC>GTT p.V130V CCR5_uc010hjd.2_Silent_p.V130V NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 130 Cytoplasmic (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) ACCTGGCTGTCGTCCATGCTG 0.478 STAB1 23166 broad.mit.edu 37 3 52543899 52543899 + Silent SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr3:52543899C>T uc003dej.2 + 23 2435 c.2361C>T c.(2359-2361)GTC>GTT p.V787V NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 787 Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCGGCTGTGTCCATGGTCTCT 0.632 KDR 3791 broad.mit.edu 37 4 55984940 55984940 + Nonsense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr4:55984940C>T uc003has.2 - 3 491 c.189G>A c.(187-189)TGG>TGA p.W63* KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.1_Nonsense_Mutation_p.W63* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 63 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GATTATTGGGCCAAAGCCAGT 0.448 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) HELT 391723 broad.mit.edu 37 4 185941817 185941817 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr4:185941817C>T uc011ckq.1 + 4 875 c.875C>T c.(874-876)CCC>CTC p.P292L HELT_uc011cko.1_Missense_Mutation_p.P207L|HELT_uc003ixa.3_Missense_Mutation_p.P206L|HELT_uc011ckp.1_Missense_Mutation_p.P150L NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 292 Pro-rich. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CAGCACAGCCCCTTCCTGACA 0.736 KDM1B 221656 broad.mit.edu 37 6 18213891 18213891 + Missense_Mutation SNP C A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr6:18213891C>A uc003nco.1 + 12 1454 c.1379C>A c.(1378-1380)GCC>GAC p.A460D KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 663 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 TTGCAGATTGCCTTGCAATTT 0.463 VPS52 6293 broad.mit.edu 37 6 33232605 33232605 + Missense_Mutation SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr6:33232605G>A uc003odm.1 - 13 1564 c.1354C>T c.(1354-1356)CGG>TGG p.R452W VPS52_uc003odn.1_Missense_Mutation_p.R263W NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 452 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 TTACGGAACCGGAGAACAATG 0.483 TFAP2B 7021 broad.mit.edu 37 6 50810943 50810943 + Silent SNP C A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr6:50810943C>A uc003pag.2 + 7 1387 c.1221C>A c.(1219-1221)GCC>GCA p.A407A NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 407 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) GCTTCGGCGCCCCGGCCATTT 0.627 TRIP6 7205 broad.mit.edu 37 7 100466151 100466151 + Missense_Mutation SNP C T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr7:100466151C>T uc003uww.2 + 4 568 c.398C>T c.(397-399)ACG>ATG p.T133M TRIP6_uc010lhk.1_RNA NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 133 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) GCCTACCGCACGGGCTCCCTG 0.637 GRM8 2918 broad.mit.edu 37 7 126086220 126086220 + Silent SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr7:126086220G>A uc003vlr.2 - 9 2948 c.2637C>T c.(2635-2637)GGC>GGT p.G879G GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 879 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTTTCACCTCGCCATTTGGTC 0.453 HNSCC(24;0.065) RAB11FIP1 80223 broad.mit.edu 37 8 37732071 37732071 + Silent SNP G A A TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chr8:37732071G>A uc003xkm.1 - 3 1628 c.1584C>T c.(1582-1584)TCC>TCT p.S528S RAB11FIP1_uc010lvz.1_Silent_p.S376S|RAB11FIP1_uc003xkn.1_Silent_p.S528S|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.S376S NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 528 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CCCTCGGAGAGGAAATTGGAG 0.547 MID2 11043 broad.mit.edu 37 X 107160914 107160914 + Missense_Mutation SNP G T T TCGA-06-0882-01A-01W-0424-08 TCGA-06-0882-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 385a3692-3208-479f-9f39-37fb65501b80 4ed08351-1e32-42e5-b009-e2f723cedfc5 g.chrX:107160914G>T uc004enl.2 + 7 1953 c.1380G>T c.(1378-1380)GAG>GAT p.E460D MID2_uc004enk.2_Intron NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 460 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 TGTGGCCAGAGATAAGGAAAT 0.468