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 MTMR2 8898 broad.mit.edu 37 11 95571268 95571268 + Missense_Mutation SNP C C G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr11:95571268C>G ENST00000393223.3 - 15 2029 c.1367G>C c.(1366-1368)aGa>aCa p.R456T MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 528 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTCTTTTCCTCTCTGTTGTTC 0.368000 6 53 0 0 1 0 0 PLCXD1 55344 broad.mit.edu 37 X 215818 215818 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chrX:215818C>T ENST00000381657.2 + 7 1302 c.788C>T c.(787-789)gCg>gTg p.A263V PLCXD1_ENST00000399012.1_Missense_Mutation_p.A263V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A263V NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 263 intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TACGTTCTGGCGCACCCGTCC 0.667000 6 18 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 99 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23376958 23376958 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:23376958T>C ENST00000400181.4 + 4 760 c.656T>C c.(655-657)aTt>aCt p.I219T RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 199 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TTTCCAGATATTATCAGTGGA 0.433000 5 44 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793787 17793787 + Silent SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr11:17793787G>A ENST00000379472.3 + 2 1176 c.1146G>A c.(1144-1146)acG>acA p.T382T KCNC1_ENST00000265969.6_Silent_p.T382T NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 382 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T382T(1) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GTGAGCACACGCACTTTAAGA 0.602000 3 37 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91977213 91977213 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:91977213T>C ENST00000428239.1 + 5 654 c.395T>C c.(394-396)aTt>aCt p.I132T CDC7_ENST00000430031.2_Missense_Mutation_p.I104T|CDC7_ENST00000234626.6_Missense_Mutation_p.I132T NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 132 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) CATGTAGTTATTGCTATGCCA 0.323000 5 82 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 4 22 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518235 108518235 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr13:108518235C>T ENST00000375915.2 - 1 848 c.710G>A c.(709-711)gGg>gAg p.G237E NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 237 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ACTGGACAACCCCGAGAACAA 0.537000 3 49 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109801533 109801533 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:109801533C>T ENST00000271332.3 + 2 3851 c.3790C>T c.(3790-3792)Cgg>Tgg p.R1264W NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1264 EGF-like 1; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGTGCTCTTCCGGCCCATCCA 0.697000 3 17 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87126109 87126109 + Splice_Site SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr8:87126109C>T ENST00000285393.3 + 2 444 c.302_splice c.e2+1 p.T101_splice CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 101 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding p.T101M(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 ACCTATATGACGTAAGTGATG 0.453000 6 77 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 3 54 0 0 1 0 0 RSPO3 84870 broad.mit.edu 37 6 127469958 127469958 + Missense_Mutation SNP G G C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr6:127469958G>C ENST00000356698.4 + 2 852 c.263G>C c.(262-264)cGa>cCa p.R88P RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.R88P NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 88 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) TATGGAACTCGATATCCAGAT 0.363000 3 61 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164494 151164494 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr3:151164494G>A ENST00000282466.3 - 4 3274 c.3275C>T c.(3274-3276)gCt>gTt p.A1092V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1092 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAATGTCAGCTTTGGGGAA 0.483000 10 81 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21249774 21249774 + Silent SNP A A G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:21249774A>G ENST00000233242.1 - 15 2257 c.2130T>C c.(2128-2130)ttT>ttC p.F710F APOB_ENST00000399256.4_Silent_p.F710F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 710 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTCTGGGAAAAATCCTTGCT 0.423000 9 42 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41201771 41201771 + Missense_Mutation SNP C C G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr5:41201771C>G ENST00000263413.3 - 3 453 c.189G>C c.(187-189)caG>caC p.Q63H C6_ENST00000337836.5_Missense_Mutation_p.Q63H NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 63 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCTGCAAATCTGTTCACAAA 0.423000 3 55 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994252 91994252 + Silent SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:91994252G>A ENST00000450295.1 - 16 2732 c.1956C>T c.(1954-1956)ccC>ccT p.P652P SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 652 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding p.P652P(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGGCCACTACGGGCTTTGGAA 0.557000 8 137 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141571318 141571318 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:141571318G>A ENST00000389484.3 - 32 6238 c.5267C>T c.(5266-5268)aCc>aTc p.T1756I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1756 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTATTTATGGTTCCATTCCC 0.348000 TSP Lung(27;0.18) 3 55 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71139678 71139678 + Silent SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr10:71139678C>T ENST00000448642.2 + 14 1586 c.1197C>T c.(1195-1197)tcC>tcT p.S399S HK1_ENST00000359426.6_Silent_p.S364S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.S368S|HK1_ENST00000298649.3_Silent_p.S363S|HK1_ENST00000360289.2_Silent_p.S352S P19367 HXK1_HUMAN hexokinase 1 364 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 TGGAGCCGTCCGATGATGACT 0.547000 12 70 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239157852 239157852 + Splice_Site SNP T T G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:239157852T>G ENST00000254657.3 - 22 3748 c.3467_splice c.e22-1 p.N1157_splice AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 1157 CRY binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GCTTCTAAATTTCTTCGCAAG 0.393000 3 71 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18053797 18053797 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr17:18053797G>A ENST00000205890.5 + 36 7605 c.7267G>A c.(7267-7269)Ggt>Agt p.G2423S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2423 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGGCCAGCCCGGTGGAGGCAG 0.617000 8 63 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107547843 107547843 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:107547843C>T ENST00000374736.3 - 49 6873 c.6479G>A c.(6478-6480)gGa>gAa p.G2160E NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2160 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAATGCAAGTCCAAAGAAATC 0.438000 4 82 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73441529 73441529 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr14:73441529G>A ENST00000556143.1 - 10 2665 c.1945C>T c.(1945-1947)Cgg>Tgg p.R649W ZFYVE1_ENST00000555072.1_Missense_Mutation_p.R234W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R649W|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.R234W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R635W NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 649 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding p.R649W(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TCACAGACCCGCACTGGCGCA 0.627000 3 45 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109793213 109793213 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:109793213G>A ENST00000271332.3 + 1 573 c.512G>A c.(511-513)cGg>cAg p.R171Q NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 171 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGTGGGCGTCGGAAAAGGAAT 0.632000 4 23 0 0 1 0 0 RSPO3 84870 broad.mit.edu 37 6 127471649 127471649 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr6:127471649G>A ENST00000356698.4 + 3 957 c.368G>A c.(367-369)gGa>gAa p.G123E RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 123 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) TTACACCTTGGAAAGTGCCTT 0.373000 4 51 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 55 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 3 23 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964647 3964647 + Silent SNP G G T rs144975421 byFrequency TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr19:3964647G>T ENST00000545797.2 - 3 648 c.405C>A c.(403-405)atC>atA p.I135I DAPK3_ENST00000301264.3_Silent_p.I135I O43293 DAPK3_HUMAN death-associated protein kinase 3 135 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAGTGTGCGATGCGCTTAG 0.642000 13 74 1.05317e-09 1.07766e-09 1 1 0 HAS2 3037 broad.mit.edu 37 8 122626638 122626638 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr8:122626638G>A ENST00000303924.4 - 4 1907 c.1370C>T c.(1369-1371)aCa>aTa p.T457I NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 457 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTTGTTTATTGTTGCAATTGC 0.428000 9 216 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976593 41976593 + Silent SNP C C T rs139361589 TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:41976593C>T ENST00000372584.1 - 8 7761 c.6747G>A c.(6745-6747)tcG>tcA p.S2249S HIVEP3_ENST00000429157.2_Silent_p.S2249S|HIVEP3_ENST00000372583.1_Silent_p.S2250S|HIVEP3_ENST00000247584.5_Silent_p.S2250S|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2250 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGGAGGCTGACGAGCTCTCAG 0.682000 4 28 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131103658 131103658 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:131103658C>T ENST00000259239.3 + 7 1370 c.662C>T c.(661-663)gCa>gTa p.A221V IMP4_ENST00000409935.1_Missense_Mutation_p.A221V NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 221 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) ATCACCTTCGCAAACCAGGAC 0.572000 7 22 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704344 60704344 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr11:60704344C>T ENST00000005286.4 + 11 3193 c.3040C>T c.(3040-3042)Cgc>Tgc p.R1014C TMEM132A_ENST00000453848.2_Missense_Mutation_p.R1013C NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 1013 Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.R1014C(1) breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TGAGGAGCTTCGCAACTACAT 0.647000 3 26 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8931882 8931882 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr19:8931882T>C ENST00000601372.1 - 7 932 c.221A>G c.(220-222)gAg>gGg p.E74G ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G Q96NG5 ZN558_HUMAN zinc finger protein 558 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CCTGCAGTTCTCCAGCATCAC 0.512000 4 28 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107547844 107547844 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:107547844C>T ENST00000374736.3 - 49 6872 c.6478G>A c.(6478-6480)Gga>Aga p.G2160R NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2160 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding p.G2160R(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATGCAAGTCCAAAGAAATCC 0.433000 4 83 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541842 32541842 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:32541842T>C ENST00000360538.2 - 3 2797 c.2681A>G c.(2680-2682)aAg>aGg p.K894R TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 894 Interaction with UBE2I.|Lys-rich. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ATGGTGTttcttatgcttctt 0.373000 19 94 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74385943 74385943 + RNA SNP T T A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr16:74385943T>A ENST00000429810.2 - 0 809 CTCACCATTTTGGGAGGCAGC 0.512000 8 39 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121702371 121702371 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr4:121702371C>T ENST00000264808.3 - 12 1610 c.1370G>A c.(1369-1371)aGa>aAa p.R457K PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 457 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTTCTTGTGTCTTTCATGAAC 0.393000 11 41 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590508 156590508 + Silent SNP C C G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr5:156590508C>G ENST00000302938.4 - 2 863 c.768G>C c.(766-768)ggG>ggC p.G256G NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 256 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTCAGCAGCCCCTGGAGTGC 0.582000 7 48 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981695 89981695 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr5:89981695C>T ENST00000405460.2 + 29 6469 c.6373C>T c.(6373-6375)Cca>Tca p.P2125S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2125 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTCTCAGCACCAATTGTCCG 0.433000 3 16 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103477 55103479 + In_Frame_Del DEL CAC CAC - TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr18:55103477_55103479delCAC ENST00000491143.2 + 1 561_563 c.529_531delCAC c.(529-531)del p.H184del NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 184 Poly-His. organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ccaccatccgcaccaccaccacc 0.655 3 6 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 2 4 --- --- --- --- KRTAP10-7 386675 broad.mit.edu 37 21 46020656 46020670 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - rs36208679 TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr21:46020656_46020670delCTGCTGCGCCCCCAG ENST00000380102.2 + 1 160_174 c.135_149delCTGCTGCGCCCCCAG c.(133-150)ccc>cc p.PCCAPS45del TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 45 30 X 5 AA repeats of C-C-X(3). keratin filament p.S50_P54delSCCAP(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 3 5 --- --- --- --- TLR8 51311 broad.mit.edu 37 X 12937492 12937492 + Frame_Shift_Del DEL A A - TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chrX:12937492delA ENST00000218032.6 + 2 420 c.333delA c.(331-333)tcfs p.S111fs TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 111 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTATACAATCAAATGGCTTGA 0.418 22 46 --- --- --- ---