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 ACAP3 116983 broad.mit.edu 37 1 1229020 1229020 + Frame_Shift_Del DEL A - - TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr1:1229020delA uc001aeb.2 - 24 2503 c.2429delT c.(2428-2430)CTGfs p.L810fs ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 810 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 GCTGCCCGCCAGGGCGCCCGG 0.721 KPRP 448834 broad.mit.edu 37 1 152732806 152732806 + Missense_Mutation SNP C T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr1:152732806C>T uc001fal.1 + 2 800 c.742C>T c.(742-744)CGC>TGC p.R248C NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 248 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGAACAGCACCGCTCTCGGAG 0.612 OR10Z1 128368 broad.mit.edu 37 1 158577000 158577000 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr1:158577000G>A uc010pio.1 + 1 772 c.772G>A c.(772-774)GTG>ATG p.V258M NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGCTTCCTTCGTGTACCTGAG 0.493 SPTA1 6708 broad.mit.edu 37 1 158650498 158650498 + Missense_Mutation SNP C G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr1:158650498C>G uc001fst.1 - 5 752 c.553G>C c.(553-555)GAG>CAG p.E185Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 185 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCACCTAGCTCCACTGATGTC 0.448 ZNF496 84838 broad.mit.edu 37 1 247464286 247464286 + Silent SNP C T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr1:247464286C>T uc001ico.2 - 9 1764 c.1299G>A c.(1297-1299)AAG>AAA p.K433K ZNF496_uc009xgv.2_Silent_p.K469K|ZNF496_uc001icp.2_Silent_p.K433K NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 433 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) ACTCGTGCGGCTTCTCCTGCT 0.617 OR2T34 127068 broad.mit.edu 37 1 248737752 248737752 + Missense_Mutation SNP C A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr1:248737752C>A uc001iep.1 - 1 307 c.307G>T c.(307-309)GGG>TGG p.G103W NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 103 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCTGGATCCCACAGCCTGAC 0.562 OR5P2 120065 broad.mit.edu 37 11 7818165 7818165 + Missense_Mutation SNP C T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr11:7818165C>T uc001mfp.1 - 1 325 c.325G>A c.(325-327)GTC>ATC p.V109I NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V109I(1) ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCAGAAGGACGCATTCGACT 0.483 TMEM41B 440026 broad.mit.edu 37 11 9305021 9305021 + Missense_Mutation SNP A G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr11:9305021A>G uc001mhm.2 - 7 1134 c.826T>C c.(826-828)TCT>CCT p.S276P TMEM41B_uc001mhn.1_Missense_Mutation_p.S276P NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN transmembrane protein 41B isoform 1 276 Helical; (Potential). integral to membrane 0 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) GGCAGAATAGAAAGAACAGCC 0.358 CASP1 834 broad.mit.edu 37 11 104900443 104900443 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr11:104900443G>A uc010rve.1 - 6 828 c.811C>T c.(811-813)CCA>TCA p.P271S CASP1_uc001pig.2_Missense_Mutation_p.P178S|CASP1_uc001pik.2_Missense_Mutation_p.P234S|CASP1_uc010rvf.1_Missense_Mutation_p.P178S|CASP1_uc010rvg.1_Missense_Mutation_p.P250S|CASP1_uc010rvh.1_Missense_Mutation_p.P178S|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.P271S|CASP1_uc009yxi.2_Missense_Mutation_p.P250S|CASP1_uc010rvj.1_Missense_Mutation_p.P271S|CASP1_uc009yxj.2_Missense_Mutation_p.P116S|CASP1_uc010rvk.1_Missense_Mutation_p.P232S NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 271 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TTCAAACTTGGGCAGTTCTTG 0.448 MARS 4141 broad.mit.edu 37 12 57910320 57910320 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr12:57910320G>A uc001sog.2 + 21 2682 c.2659G>A c.(2659-2661)GAG>AAG p.E887K MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 887 WHEP-TRS. methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GGCTGTAGCTGAGGGGAAACC 0.433 DDIT3 1649 broad.mit.edu 37 12 57911096 57911096 + Missense_Mutation SNP C A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr12:57911096C>A uc001soi.2 - 3 274 c.94G>T c.(94-96)GAT>TAT p.D32Y MARS_uc001sof.1_RNA|DDIT3_uc009zps.2_Missense_Mutation_p.D55Y|DDIT3_uc009zpt.2_Missense_Mutation_p.D55Y NM_004083 NP_004074 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 32 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding p.D32Y(1) FUS/DDIT3(623)|EWSR1/DDIT3(43) soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1) 671 CCATTTTCATCTGAAGACAGG 0.493 T FUS liposarcoma PIP4K2C 79837 broad.mit.edu 37 12 57994645 57994645 + Missense_Mutation SNP G T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr12:57994645G>T uc001sou.2 + 8 996 c.865G>T c.(865-867)GAC>TAC p.D289Y PIP4K2C_uc001sot.2_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.1_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.1_Missense_Mutation_p.D241Y NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 289 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) AGGCATCCACGACATCATTCG 0.552 PIP4K2C 79837 broad.mit.edu 37 12 57994848 57994848 + Missense_Mutation SNP C G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr12:57994848C>G uc001sou.2 + 8 1199 c.1068C>G c.(1066-1068)ATC>ATG p.I356M PIP4K2C_uc001sot.2_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.1_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.1_Missense_Mutation_p.I308M NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 356 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) TCTATGCCATCCGGAGTGCTG 0.562 TSPAN31 6302 broad.mit.edu 37 12 58140433 58140433 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr12:58140433G>A uc001spt.2 + 4 528 c.374G>A c.(373-375)AGA>AAA p.R125K TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_Missense_Mutation_p.R47K NM_005981 NP_005972 Q12999 TSN31_HUMAN sarcoma amplified sequence 125 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane|membrane fraction 0 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GAACTGGAAAGAAGTTTTGAT 0.448 TPTE2 93492 broad.mit.edu 37 13 20066995 20066995 + Missense_Mutation SNP A T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr13:20066995A>T uc001umd.2 - 4 325 c.114T>A c.(112-114)AGT>AGA p.S38R TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.S38R|TPTE2_uc001ume.2_Missense_Mutation_p.S38R|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 38 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CTCACCTTTTACTGATAGGTG 0.388 CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T - - TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr14:21884031delT uc001was.1 - 6 1009 c.915delA c.(913-915)AAAfs p.K305fs CHD8_uc001war.1_Frame_Shift_Del_p.K201fs NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 PCNX 22990 broad.mit.edu 37 14 71495452 71495452 + Missense_Mutation SNP A C C TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr14:71495452A>C uc001xmo.2 + 16 3948 c.3502A>C c.(3502-3504)ATC>CTC p.I1168L PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1168 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTACAGTTTTATCTGTAGCAT 0.308 TJP1 7082 broad.mit.edu 37 15 30003151 30003151 + Missense_Mutation SNP T C C TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr15:30003151T>C uc001zcr.2 - 24 4731 c.4256A>G c.(4255-4257)TAT>TGT p.Y1419C TJP1_uc010azl.2_Missense_Mutation_p.Y1407C|TJP1_uc001zcq.2_Missense_Mutation_p.Y1343C|TJP1_uc001zcs.2_Missense_Mutation_p.Y1339C NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1419 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GATGGGTTCATAGCGTTTCTC 0.512 ARNT2 9915 broad.mit.edu 37 15 80883952 80883952 + Silent SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr15:80883952G>A uc002bfr.2 + 18 2128 c.1962G>A c.(1960-1962)TCG>TCA p.S654S ARNT2_uc010unm.1_Silent_p.S643S|ARNT2_uc002bfs.2_Silent_p.S643S NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 654 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GGCGGCCCTCGGAAGTCTGGT 0.567 RSL1D1 26156 broad.mit.edu 37 16 11931690 11931690 + Missense_Mutation SNP G T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr16:11931690G>T uc002dbp.1 - 9 1500 c.1427C>A c.(1426-1428)ACC>AAC p.T476N RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 476 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 TTTTTTGGGGGTGTGGGAAGC 0.353 SMG1 23049 broad.mit.edu 37 16 18875133 18875133 + Silent SNP A T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr16:18875133A>T uc002dfm.2 - 25 3897 c.3534T>A c.(3532-3534)TCT>TCA p.S1178S SMG1_uc010bwb.2_Silent_p.S1038S NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1178 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CCTCAGGGGAAGAGTCAGTCG 0.388 TP53 7157 broad.mit.edu 37 17 7577558 7577566 + In_Frame_Del DEL GGAACTGTT - - rs28934573 TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr17:7577558_7577566delGGAACTGTT uc002gim.2 - 7 909_917 c.715_723delAACAGTTCC c.(715-723)AACAGTTCCdel p.NSS239del TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.2_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 239_241 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). S -> A (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(73)|p.N239D(31)|p.S241C(24)|p.N239S(19)|p.C242fs*5(15)|p.S240G(14)|p.N239fs*25(12)|p.S240R(8)|p.S241fs*6(8)|p.0?(7)|p.S241Y(7)|p.N239Y(6)|p.S241A(6)|p.S240I(6)|p.N239K(6)|p.S241del(5)|p.S241T(5)|p.N239T(4)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.M237_N239delMCN(1)|p.S240fs*23(1)|p.N239fs*26(1)|p.C238fs*21(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.S241_G245delSCMGG(1)|p.N239fs*0(1)|p.C238_N239insX(1)|p.N239_C242del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCCCATGCAGGAACTGTTACACATGTAG 0.574 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) ZNF317 57693 broad.mit.edu 37 19 9271619 9271619 + Missense_Mutation SNP T A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr19:9271619T>A uc002mku.2 + 7 1573 c.1298T>A c.(1297-1299)CTT>CAT p.L433H ZNF317_uc002mkv.2_Missense_Mutation_p.L292H|ZNF317_uc002mkw.2_Missense_Mutation_p.L401H|ZNF317_uc002mkx.2_Missense_Mutation_p.L348H|ZNF317_uc002mky.2_Missense_Mutation_p.L316H NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 433 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGTCCATCCTTAAGACTCAC 0.537 NOTCH3 4854 broad.mit.edu 37 19 15298114 15298114 + Missense_Mutation SNP C T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr19:15298114C>T uc002nan.2 - 11 1718 c.1642G>A c.(1642-1644)GAC>AAC p.D548N NOTCH3_uc002nao.1_Missense_Mutation_p.D548N NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 548 Extracellular (Potential).|EGF-like 14; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGGGAGCAGTCGTCCACGTTG 0.657 FCGBP 8857 broad.mit.edu 37 19 40419695 40419695 + Missense_Mutation SNP C T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr19:40419695C>T uc002omp.3 - 6 3307 c.3299G>A c.(3298-3300)GGC>GAC p.G1100D NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1100 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCCAGACTGGCCTGGCAGCAG 0.647 NLRP2 55655 broad.mit.edu 37 19 55494507 55494507 + Missense_Mutation SNP C T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr19:55494507C>T uc002qij.2 + 6 1527 c.1441C>T c.(1441-1443)CGT>TGT p.R481C NLRP2_uc010yfp.1_Missense_Mutation_p.R458C|NLRP2_uc010esn.2_Missense_Mutation_p.R457C|NLRP2_uc010eso.2_Missense_Mutation_p.R478C|NLRP2_uc010esp.2_Missense_Mutation_p.R459C NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 481 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTCCGACCTCCGTCTGTTCCT 0.632 TEKT4 150483 broad.mit.edu 37 2 95537569 95537569 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr2:95537569G>A uc002stw.1 + 1 338 c.245G>A c.(244-246)CGC>CAC p.R82H uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 82 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CTGGCGCAGCGCACGCAGCAA 0.692 IWS1 55677 broad.mit.edu 37 2 128238721 128238721 + Nonsense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr2:128238721G>A uc002ton.2 - 14 2662 c.2359C>T c.(2359-2361)CGA>TGA p.R787* NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 787 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTATCCAGTCGACTGATACCC 0.388 GGT1 2678 broad.mit.edu 37 22 25023517 25023517 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr22:25023517G>A uc003aan.1 + 12 1626 c.1139G>A c.(1138-1140)GGC>GAC p.G380D GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.1_Missense_Mutation_p.G380D|GGT1_uc003aav.1_Missense_Mutation_p.G380D|GGT1_uc003aaw.1_Missense_Mutation_p.G380D|GGT1_uc003aax.1_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 380 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) GATGACGGGGGCACTGCTCAC 0.632 PCDH7 5099 broad.mit.edu 37 4 30725870 30725870 + Silent SNP A G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr4:30725870A>G uc003gsk.1 + 1 3834 c.2826A>G c.(2824-2826)AAA>AAG p.K942K PCDH7_uc011bxw.1_Silent_p.K895K|PCDH7_uc011bxx.1_Silent_p.K942K NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 942 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 AAAACAAAAAATCTAAGCAGC 0.413 PTCD2 79810 broad.mit.edu 37 5 71627105 71627105 + Missense_Mutation SNP A G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr5:71627105A>G uc003kcb.2 + 4 381 c.371A>G c.(370-372)AAT>AGT p.N124S PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.2_5'UTR|PTCD2_uc011csg.1_Intron|PTCD2_uc011csh.1_Intron|PTCD2_uc003kcd.2_RNA NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 124 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) GAGAACAAAAATTTCACTTTG 0.393 SV2C 22987 broad.mit.edu 37 5 75428120 75428120 + Missense_Mutation SNP A G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr5:75428120A>G uc003kei.1 + 2 679 c.545A>G c.(544-546)GAC>GGC p.D182G NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 182 Extracellular (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCTGAGACAGACCTCTGCATC 0.502 UQCRQ 27089 broad.mit.edu 37 5 132202700 132202701 + Frame_Shift_Ins INS - G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr5:132202700_132202701insG uc003kya.1 + 2 201_202 c.127_128insG c.(127-129)CGGfs p.R43fs GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank NM_014402 NP_055217 O14949 QCR8_HUMAN ubiquinol-cytochrome c reductase, complex III 43 respiratory electron transport chain mitochondrial inner membrane|respiratory chain ubiquinol-cytochrome-c reductase activity 0 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCGCCGCATTCGGGAGTCTTTC 0.629 PCDHA1 56147 broad.mit.edu 37 5 140167621 140167621 + Silent SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr5:140167621G>A uc003lhb.2 + 1 1746 c.1746G>A c.(1744-1746)CCG>CCA p.P582P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.P582P NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 582 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGGTGCCGCGATTGGTGG 0.657 PCDHGA2 56113 broad.mit.edu 37 5 140720885 140720885 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr5:140720885G>A uc003ljk.1 + 1 2532 c.2347G>A c.(2347-2349)GAG>AAG p.E783K PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.E783K|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 783 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCAGCCAGGAGAGCTGTGA 0.488 ODZ2 57451 broad.mit.edu 37 5 167627098 167627098 + Missense_Mutation SNP C G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr5:167627098C>G uc010jjd.2 + 17 3365 c.3365C>G c.(3364-3366)GCG>GGG p.A1122G ODZ2_uc003lzr.3_Missense_Mutation_p.A899G|ODZ2_uc003lzt.3_Missense_Mutation_p.A495G|ODZ2_uc010jje.2_Missense_Mutation_p.A393G NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AAGACAGATGCGTATGGCCAA 0.453 DAXX 1616 broad.mit.edu 37 6 33287338 33287338 + Missense_Mutation SNP A G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr6:33287338A>G uc003oec.2 - 6 1963 c.1759T>C c.(1759-1761)TCC>CCC p.S587P ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.S512P|DAXX_uc011dre.1_Missense_Mutation_p.S599P|DAXX_uc003oed.2_Missense_Mutation_p.S587P NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 587 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 CTGGAAGAGGAAATGTCCGTC 0.527 Mis|F|N Pancreatic neuroendocrine tumors UBE2CBP 90025 broad.mit.edu 37 6 83728822 83728822 + Frame_Shift_Del DEL C - - TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr6:83728822delC uc003pjp.2 - 8 988 c.880delG c.(880-882)GAAfs p.E294fs UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Frame_Shift_Del_p.E84fs NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 294 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) CTCAAAGATTCAATCACCAAA 0.353 TFPI2 7980 broad.mit.edu 37 7 93516588 93516588 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr7:93516588G>A uc003umy.1 - 4 691 c.616C>T c.(616-618)CGT>TGT p.R206C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C|TFPI2_uc003unb.1_Missense_Mutation_p.R212C|TFPI2_uc010lfg.1_Missense_Mutation_p.R82C NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 206 BPTI/Kunitz inhibitor 3. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) GCACATGCACGTTTGCAATCC 0.323 ASZ1 136991 broad.mit.edu 37 7 117024817 117024817 + Missense_Mutation SNP A G G TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr7:117024817A>G uc003vjb.2 - 6 713 c.650T>C c.(649-651)ATG>ACG p.M217T ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 217 ANK 6. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTCACTTGGCATCTTTCCATC 0.353 KEL 3792 broad.mit.edu 37 7 142658531 142658531 + Missense_Mutation SNP G A A rs150577967 TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr7:142658531G>A uc003wcb.2 - 3 349 c.139C>T c.(139-141)CGG>TGG p.R47W NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 47 Cytoplasmic (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GTCAGCACCCGCCTGGCCACT 0.547 MLL3 58508 broad.mit.edu 37 7 151927093 151927093 + Missense_Mutation SNP C A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr7:151927093C>A uc003wla.2 - 18 3110 c.2891G>T c.(2890-2892)GGC>GTC p.G964V MLL3_uc003wkz.2_Missense_Mutation_p.G25V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 964 PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCCAAAACTGCCACAAACTAC 0.348 N medulloblastoma TLE4 7091 broad.mit.edu 37 9 82324566 82324566 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr9:82324566G>A uc004ald.2 + 15 2216 c.1367G>A c.(1366-1368)CGT>CAT p.R456H TLE4_uc004alc.2_Missense_Mutation_p.R431H|TLE4_uc010mpr.2_Missense_Mutation_p.R310H|TLE4_uc004ale.2_Missense_Mutation_p.R68H|TLE4_uc011lsq.1_Missense_Mutation_p.R399H|TLE4_uc010mps.2_Missense_Mutation_p.R355H|TLE4_uc004alf.2_Missense_Mutation_p.R370H NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CATCACATGCGTGTGCCAGCA 0.438 FLJ46321 389763 broad.mit.edu 37 9 84605747 84605747 + Missense_Mutation SNP G A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr9:84605747G>A uc004amn.2 + 4 409 c.362G>A c.(361-363)CGT>CAT p.R121H NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 121 integral to membrane 0 AACCACTTTCGTCGACTGTTA 0.537 ZNF618 114991 broad.mit.edu 37 9 116779034 116779034 + Missense_Mutation SNP C A A TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chr9:116779034C>A uc004bid.2 + 10 913 c.814C>A c.(814-816)CAG>AAG p.Q272K ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.2_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.1_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.1_Missense_Mutation_p.Q240K NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 272 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACTCCCTACCAGGAGCATGT 0.572 MAP3K15 389840 broad.mit.edu 37 X 19431486 19431486 + Missense_Mutation SNP G T T TCGA-06-0238-01A-02D-1492-08 TCGA-06-0238-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74 df9e1eb8-ba5f-4621-9b61-5283e3375482 g.chrX:19431486G>T uc004czk.1 - 11 1651 c.14C>A c.(13-15)ACC>AAC p.T5N MAP3K15_uc004czj.1_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase Error:Variant_position_missing_in_Q6ZN16_after_alignment ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) ATTTCTGTGGGTGAGACATGC 0.398