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 CMPK1 51727 broad.mit.edu 37 1 47838725 47838725 + Silent SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr1:47838725C>T uc001cri.2 + 3 566 c.417C>T c.(415-417)ACC>ACT p.T139T CMPK1_uc010omp.1_Silent_p.T90T|CMPK1_uc010omq.1_RNA NM_016308 NP_057392 P30085 KCY_HUMAN UMP-CMP kinase 1 isoform a 107 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity ovary(1) 1 Gemcitabine(DB00441) GGAACAAGACCATGGATGGGA 0.388 DDAH1 23576 broad.mit.edu 37 1 85790448 85790448 + Missense_Mutation SNP G A A TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr1:85790448G>A uc001dlb.2 - 5 877 c.716C>T c.(715-717)CCG>CTG p.P239L DDAH1_uc001dlc.2_Missense_Mutation_p.P136L|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.P139L|DDAH1_uc009wco.2_Missense_Mutation_p.P136L NM_012137 NP_036269 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 239 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding 0 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) ATACTCTTCCGGGGTTCGGTG 0.473 PKN2 5586 broad.mit.edu 37 1 89294277 89294277 + Missense_Mutation SNP G A A TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr1:89294277G>A uc001dmn.2 + 19 2875 c.2533G>A c.(2533-2535)GTG>ATG p.V845M PKN2_uc010osp.1_Missense_Mutation_p.V829M|PKN2_uc010osq.1_Missense_Mutation_p.V688M|PKN2_uc009wcv.2_Missense_Mutation_p.V797M|PKN2_uc010osr.1_Missense_Mutation_p.V510M NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 845 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GGGCCTTGGCGTGCTTATATA 0.383 OR14C36 127066 broad.mit.edu 37 1 248512862 248512862 + Silent SNP G A A rs143199703 TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr1:248512862G>A uc010pzl.1 + 1 786 c.786G>A c.(784-786)GCG>GCA p.A262A NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A262A(1) ovary(1)|central_nervous_system(1)|skin(1) 3 GGCCACCTGCGATACCTGCAG 0.463 CRY2 1408 broad.mit.edu 37 11 45891983 45891983 + Silent SNP G A A TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr11:45891983G>A uc010rgn.1 + 9 1534 c.1512G>A c.(1510-1512)GTG>GTA p.V504V CRY2_uc009ykw.2_Silent_p.V422V|CRY2_uc010rgo.1_Silent_p.V226V NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 483 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 TCATTGGTGTGGACTACCCAC 0.532 P2RX2 22953 broad.mit.edu 37 12 133197851 133197853 + In_Frame_Del DEL TAC - - TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr12:133197851_133197853delTAC uc001ukj.1 + 9 916_918 c.916_918delTAC c.(916-918)TACdel p.Y307del P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukk.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 307 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GTTTGCCAAATACTACAAGATCA 0.606 RIPK3 11035 broad.mit.edu 37 14 24808471 24808471 + Missense_Mutation SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr14:24808471C>T uc001wpb.2 - 3 431 c.221G>A c.(220-222)CGC>CAC p.R74H RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 74 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity central_nervous_system(2)|ovary(1)|lung(1) 4 GBM - Glioblastoma multiforme(265;0.0181) CCCTTCTAGGCGCAGCACGAA 0.577 MYH1 4619 broad.mit.edu 37 17 10404048 10404048 + Missense_Mutation SNP G A A TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr17:10404048G>A uc002gmo.2 - 28 3854 c.3760C>T c.(3760-3762)CGC>TGC p.R1254C uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1254 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCTAGAGCGCGGCACATCTTT 0.448 ACTN4 81 broad.mit.edu 37 19 39205183 39205183 + Silent SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr19:39205183C>T uc002oja.1 + 9 953 c.894C>T c.(892-894)TAC>TAT p.Y298Y ACTN4_uc010egc.1_Silent_p.Y298Y NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 298 Spectrin 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGAGGACTACGAGAAGCTGG 0.582 SPHK2 56848 broad.mit.edu 37 19 49132916 49132916 + Silent SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr19:49132916C>T uc002pjr.2 + 7 2217 c.1851C>T c.(1849-1851)GGC>GGT p.G617G SPHK2_uc010xzt.1_Silent_p.G558G|SPHK2_uc002pjs.2_Silent_p.G617G|SPHK2_uc002pjt.2_Silent_p.G411G|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.G581G|SPHK2_uc002pjw.2_Silent_p.G679G NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 617 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CACCACGCGGCGTGCTCACAG 0.682 NLRP5 126206 broad.mit.edu 37 19 56539737 56539737 + Missense_Mutation SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr19:56539737C>T uc002qmj.2 + 7 2138 c.2138C>T c.(2137-2139)CCG>CTG p.P713L NLRP5_uc002qmi.2_Missense_Mutation_p.P694L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 713 LRR 1. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTGTGGCTTCCGATTAACCAG 0.493 MZF1 7593 broad.mit.edu 37 19 59081801 59081801 + Missense_Mutation SNP C G G TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr19:59081801C>G uc002qto.2 - 3 1051 c.490G>C c.(490-492)GAG>CAG p.E164Q LOC100131691_uc002qtm.2_RNA|MZF1_uc002qtn.2_Missense_Mutation_p.E164Q|MZF1_uc010euu.1_Missense_Mutation_p.E205Q NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 164 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GGCCCAGGCTCTGGAGTTGGA 0.582 MX1 4599 broad.mit.edu 37 21 42812934 42812934 + Missense_Mutation SNP G A A TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr21:42812934G>A uc002yzh.2 + 11 1659 c.712G>A c.(712-714)GAG>AAG p.E238K MX1_uc002yzi.2_Missense_Mutation_p.E238K|MX1_uc010goq.2_Missense_Mutation_p.E238K NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 238 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GGTGGACCCCGAGGGAGACAG 0.632 PLCD1 5333 broad.mit.edu 37 3 38051499 38051499 + Missense_Mutation SNP G C C TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr3:38051499G>C uc003chn.2 - 8 1307 c.1183C>G c.(1183-1185)CTG>GTG p.L395V PLCD1_uc003chm.2_Missense_Mutation_p.L416V NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 395 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TGCTGCTCCAGTGTGCAGTGG 0.647 MTMR12 54545 broad.mit.edu 37 5 32230234 32230234 + Missense_Mutation SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr5:32230234C>T uc003jhq.2 - 16 2064 c.1894G>A c.(1894-1896)GAG>AAG p.E632K MTMR12_uc010iuk.2_Missense_Mutation_p.E578K|MTMR12_uc010iul.2_Missense_Mutation_p.E522K NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 632 Myotubularin phosphatase. cytoplasm phosphatase activity ovary(1) 1 TCGGGCCCCTCGATATGCGGT 0.493 PHF1 5252 broad.mit.edu 37 6 33380059 33380059 + Silent SNP C T T TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr6:33380059C>T uc003oeh.2 + 2 255 c.19C>T c.(19-21)CTG>TTG p.L7L PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Silent_p.L7L|PHF1_uc010jux.2_5'UTR NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 7 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) GCCCCCCCGGCTGAGCCGCTC 0.592 COL21A1 81578 broad.mit.edu 37 6 56044496 56044496 + Missense_Mutation SNP T C C TCGA-08-0386-01A-01D-1492-08 TCGA-08-0386-11A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 90bf7f8f-4b8c-410f-afa6-2b439ec82f97 868f58c2-6cf1-4ae3-8a35-daf8ab5ad727 g.chr6:56044496T>C uc003pcs.2 - 3 752 c.520A>G c.(520-522)ACA>GCA p.T174A COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 174 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GCATCTTCTGTTTCTGAACCA 0.398