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 ARHGEF10L 55160 broad.mit.edu 37 1 17942653 17942653 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr1:17942653C>T uc001ban.2 + 9 950 c.791C>T c.(790-792)GCC>GTC p.A264V ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A225V|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A225V|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A225V|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.A22V|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A30V|ARHGEF10L_uc010ocs.1_5'Flank|ARHGEF10L_uc001bar.2_5'Flank NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 264 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ACACGGATGGCCGTGATGCGC 0.637 WDR65 149465 broad.mit.edu 37 1 43665064 43665064 + Missense_Mutation SNP T A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr1:43665064T>A uc001cip.1 + 9 1553 c.1432T>A c.(1432-1434)TCC>ACC p.S478T EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.S467T|WDR65_uc001ciq.1_Missense_Mutation_p.S478T NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 478 WD 7. skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTATAGTGTTCCTTTAGCAA 0.463 COL24A1 255631 broad.mit.edu 37 1 86250051 86250051 + Splice_Site SNP T C C TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr1:86250051T>C uc001dlj.2 - 49 4102 c.4060_splice c.e49-1 p.G1354_splice COL24A1_uc001dli.2_Splice_Site_p.G490_splice|COL24A1_uc010osd.1_Splice_Site_p.G654_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TTGTTCACCCTATGGGTAGAA 0.453 FCRL1 115350 broad.mit.edu 37 1 157771270 157771270 + Silent SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr1:157771270G>A uc001frg.2 - 6 1097 c.984C>T c.(982-984)TAC>TAT p.Y328Y FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.Y328Y|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 328 Helical; (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTTTGAGGCCGTAGCAAAATA 0.433 F5 2153 broad.mit.edu 37 1 169487691 169487691 + Missense_Mutation SNP G A A rs118203910 TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr1:169487691G>A uc001ggg.1 - 23 6449 c.6304C>T c.(6304-6306)CGT>TGT p.R2102C NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 2102 F5/8 type C 2. R -> H (in THR-APCR).|R -> C (in FA5D; impairs both factor V secretion and activity). cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GCATTCAGACGGGCACGGAAG 0.488 CAMSAP1L1 23271 broad.mit.edu 37 1 200818182 200818182 + Missense_Mutation SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr1:200818182G>A uc001gvl.2 + 12 2588 c.2318G>A c.(2317-2319)CGT>CAT p.R773H CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R762H|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R746H NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 773 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 GAAAAGAGGCGTGCTATAGAA 0.448 APBB1IP 54518 broad.mit.edu 37 10 26825091 26825091 + Missense_Mutation SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr10:26825091G>A uc001iss.2 + 10 1310 c.989G>A c.(988-990)CGC>CAC p.R330H APBB1IP_uc009xks.1_Missense_Mutation_p.R330H NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 330 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TGGAAAAGGCGCTATTTTCTT 0.348 HKDC1 80201 broad.mit.edu 37 10 71025477 71025477 + Silent SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr10:71025477C>T uc001jpf.3 + 17 2642 c.2509C>T c.(2509-2511)CTG>TTG p.L837L HKDC1_uc010qje.1_Silent_p.L700L|HKDC1_uc009xqb.2_RNA NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 837 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 CGGTGCTGGCCTGGCCGCTAT 0.642 TLL2 7093 broad.mit.edu 37 10 98155083 98155083 + Silent SNP C T T rs151335014 TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr10:98155083C>T uc001kml.1 - 13 1813 c.1587G>A c.(1585-1587)ACG>ACA p.T529T TLL2_uc009xvf.1_Silent_p.T507T NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 529 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CACTCTCTTCCGTGGGGCCAT 0.527 OR52K2 119774 broad.mit.edu 37 11 4471261 4471261 + Missense_Mutation SNP C A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr11:4471261C>A uc001lyz.1 + 1 692 c.692C>A c.(691-693)GCC>GAC p.A231D NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CTACTGCTTGCCTCTCAGGAG 0.463 SLC22A11 55867 broad.mit.edu 37 11 64329818 64329818 + Silent SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr11:64329818G>A uc001oai.2 + 4 1106 c.732G>A c.(730-732)GCG>GCA p.A244A SLC22A11_uc001oah.1_Missense_Mutation_p.A210T|SLC22A11_uc001oaj.2_Silent_p.A244A|SLC22A11_uc009ypq.2_Silent_p.A244A|SLC22A11_uc001oak.1_Silent_p.A73A NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 244 Helical; (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) GCCAGGCGGCGCTGGGCGGCC 0.632 USP35 57558 broad.mit.edu 37 11 77921415 77921416 + Frame_Shift_Ins INS - G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr11:77921415_77921416insG uc009yva.1 + 10 2760_2761 c.2514_2515insG c.(2512-2517)GCTGGTfs p.A838fs USP35_uc001oze.2_Frame_Shift_Ins_p.A594fs|USP35_uc001ozc.2_Frame_Shift_Ins_p.A406fs|USP35_uc010rsp.1_Frame_Shift_Ins_p.A270fs|USP35_uc001ozd.2_Frame_Shift_Ins_p.A449fs|USP35_uc001ozf.2_Frame_Shift_Ins_p.A569fs NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 838_839 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TGCCACTGGCTGGTGGCCGTGG 0.634 KRT1 3848 broad.mit.edu 37 12 53072470 53072470 + Missense_Mutation SNP G T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr12:53072470G>T uc001sau.1 - 2 721 c.662C>A c.(661-663)TCC>TAC p.S221Y KRT1_uc001sav.1_Missense_Mutation_p.S221Y NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 221 Rod.|Linker 1. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 GGTTCTAGTGGAGGTATCTAC 0.468 SILV 6490 broad.mit.edu 37 12 56355103 56355103 + Missense_Mutation SNP T C C TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr12:56355103T>C uc001sip.2 - 3 363 c.332A>G c.(331-333)AAT>AGT p.N111S SILV_uc001siq.2_Missense_Mutation_p.N111S|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Missense_Mutation_p.N111S NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 111 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GTACTCACCATTGATGATGGT 0.468 DAO 1610 broad.mit.edu 37 12 109278787 109278787 + Missense_Mutation SNP G A A rs142698254 TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr12:109278787G>A uc001tnr.3 + 2 158 c.5G>A c.(4-6)CGT>CAT p.R2H DAO_uc001tnq.3_Missense_Mutation_p.R2H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 2 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 GCTGCAATGCGTGTGGTGGTG 0.498 MGA 23269 broad.mit.edu 37 15 42054376 42054376 + Silent SNP A G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr15:42054376A>G uc010ucy.1 + 22 7741 c.7560A>G c.(7558-7560)AAA>AAG p.K2520K MGA_uc010ucz.1_Silent_p.K2311K|MGA_uc010uda.1_Silent_p.K1136K NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2481 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TTTATGCAAAACAGCAAGCAC 0.383 KIAA0556 23247 broad.mit.edu 37 16 27640063 27640063 + Silent SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr16:27640063C>T uc002dow.2 + 4 246 c.222C>T c.(220-222)AAC>AAT p.N74N NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 74 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TCTATGTCAACGGTGCCAATT 0.517 SALL1 6299 broad.mit.edu 37 16 51173066 51173066 + Missense_Mutation SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr16:51173066G>A uc010vgs.1 - 2 3098 c.3067C>T c.(3067-3069)CAT>TAT p.H1023Y SALL1_uc010vgr.1_Missense_Mutation_p.H926Y|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1023 C2H2-type 6. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTTTGGTATGACTTCTATAG 0.408 TP53 7157 broad.mit.edu 37 17 7578512 7578513 + Frame_Shift_Del DEL TC - - TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr17:7578512_7578513delTC uc002gim.2 - 5 611_612 c.417_418delGA c.(415-420)AAGACCfs p.K139fs TP53_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.2_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.1_Frame_Shift_Del_p.K100fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 139_140 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (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.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.T140fs*9(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.T140fs*30(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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) ACAGGGCAGGTCTTGGCCAGTT 0.564 111 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) PSMC5 5705 broad.mit.edu 37 17 61908445 61908445 + Silent SNP A G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr17:61908445A>G uc002jcb.2 + 8 770 c.729A>G c.(727-729)CCA>CCG p.P243P PSMC5_uc010ddy.2_Silent_p.P220P|PSMC5_uc010ddz.2_Silent_p.P164P|PSMC5_uc002jcc.2_Silent_p.P235P|PSMC5_uc002jcd.2_Silent_p.P235P NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 243 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding large_intestine(1) 1 AACATGCTCCATCTATCATCT 0.562 SLC25A19 60386 broad.mit.edu 37 17 73274326 73274326 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr17:73274326C>T uc002jns.3 - 4 1460 c.550G>A c.(550-552)GCC>ACC p.A184T SLC25A19_uc010dge.2_Missense_Mutation_p.A127T|SLC25A19_uc002jnv.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnu.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnw.3_Missense_Mutation_p.A184T|SLC25A19_uc002jnt.3_Missense_Mutation_p.A184T NM_021734 NP_068380 Q9HC21 TPC_HUMAN solute carrier family 25, member 19 184 Solcar 2.|Helical; Name=4; (Potential). integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity ovary(1) 1 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) GGGAAGATGGCGATCAAGGTG 0.562 MUC16 94025 broad.mit.edu 37 19 9026313 9026313 + Missense_Mutation SNP C A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:9026313C>A uc002mkp.2 - 14 36877 c.36673G>T c.(36673-36675)GCT>TCT p.A12225S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12227 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGAGGGCCAGCAGCTATAGTG 0.438 PPAN-P2RY11 692312 broad.mit.edu 37 19 10224939 10224939 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:10224939C>T uc002mna.2 + 13 1910 c.1910C>T c.(1909-1911)CCG>CTG p.P637L PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.P217L NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGCGGCCTGCCGCTGCTGCTC 0.701 HOMER3 9454 broad.mit.edu 37 19 19049592 19049592 + Missense_Mutation SNP T C C TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:19049592T>C uc002nku.2 - 2 769 c.116A>G c.(115-117)TAT>TGT p.Y39C HOMER3_uc010eby.2_Missense_Mutation_p.Y39C|HOMER3_uc010ebz.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkw.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkv.2_Missense_Mutation_p.Y39C NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homer, neuronal immediate early gene, 3 isoform 39 WH1. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding 0 Epithelial(12;0.0107) ATCGTAGAAATAGGAGACAGT 0.562 ZNF430 80264 broad.mit.edu 37 19 21240178 21240178 + Missense_Mutation SNP A G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:21240178A>G uc002npj.2 + 5 1174 c.1064A>G c.(1063-1065)AAC>AGC p.N355S ZNF430_uc002npk.2_Missense_Mutation_p.N354S NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 355 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 AAAGCTTTTAACCAATCCTCA 0.388 ZNF254 9534 broad.mit.edu 37 19 24310666 24310666 + Missense_Mutation SNP A G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:24310666A>G uc002nru.2 + 4 1998 c.1864A>G c.(1864-1866)AGA>GGA p.R622G ZNF254_uc010xrk.1_Missense_Mutation_p.R537G NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 622 C2H2-type 15. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TAAACATAAGAGAATTCATAC 0.383 MLL4 9757 broad.mit.edu 37 19 36212357 36212357 + Missense_Mutation SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:36212357G>A uc010eei.2 + 3 2108 c.2108G>A c.(2107-2109)AGC>AAC p.S703N NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 703 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AACCACCTCAGCCTGCCTCGA 0.662 SIGLEC11 114132 broad.mit.edu 37 19 50461706 50461706 + Missense_Mutation SNP C A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:50461706C>A uc010ybh.1 - 8 1576 c.1485G>T c.(1483-1485)GAG>GAT p.E495D SIGLEC11_uc010ybi.1_Intron NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 495 Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TGCTGTTCCCCTCCAGCAGCT 0.701 ZNF665 79788 broad.mit.edu 37 19 53669083 53669083 + Missense_Mutation SNP G C C TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr19:53669083G>C uc010eqm.1 - 4 760 c.660C>G c.(658-660)AAC>AAG p.N220K NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 155 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) GGATTGTTAGGTTTGAACGAA 0.403 USP34 9736 broad.mit.edu 37 2 61515873 61515873 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr2:61515873C>T uc002sbe.2 - 34 4710 c.4688G>A c.(4687-4689)GGC>GAC p.G1563D NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1563 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCTTGATTTGCCAGGCCAGGT 0.418 KDM3A 55818 broad.mit.edu 37 2 86702031 86702031 + Silent SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr2:86702031G>A uc002sri.3 + 12 2184 c.1857G>A c.(1855-1857)AAG>AAA p.K619K KDM3A_uc010ytj.1_Silent_p.K619K|KDM3A_uc010ytk.1_Silent_p.K567K NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 619 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 ACACAGCAAAGTACATCTTGG 0.408 TTN 7273 broad.mit.edu 37 2 179414490 179414490 + Silent SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr2:179414490G>A uc010zfg.1 - 287 84479 c.84255C>T c.(84253-84255)ACC>ACT p.T28085T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T21780T|TTN_uc010zfi.1_Silent_p.T21713T|TTN_uc010zfj.1_Silent_p.T21588T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29012 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGTAGTGGGTTATGGGAG 0.448 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G C C rs121913499 TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr2:209113113G>C uc002vcs.2 - 4 640 c.394C>G c.(394-396)CGT>GGT p.R132G IDH1_uc002vct.2_Missense_Mutation_p.R132G|IDH1_uc002vcu.2_Missense_Mutation_p.R132G NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398 Mis gliobastoma DOCK10 55619 broad.mit.edu 37 2 225729691 225729691 + Silent SNP C A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr2:225729691C>A uc010fwz.1 - 12 1610 c.1371G>T c.(1369-1371)GGG>GGT p.G457G DOCK10_uc002vob.2_Silent_p.G451G|DOCK10_uc002vod.1_Silent_p.G457G NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 457 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CCACAGAAGCCCCCAAGAGCA 0.458 NCOA3 8202 broad.mit.edu 37 20 46271028 46271028 + Missense_Mutation SNP G T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr20:46271028G>T uc002xtk.2 + 17 3357 c.3152G>T c.(3151-3153)AGA>ATA p.R1051I NCOA3_uc010ght.1_Missense_Mutation_p.R1046I|NCOA3_uc002xtl.2_Missense_Mutation_p.R1051I|NCOA3_uc002xtm.2_Missense_Mutation_p.R1051I|NCOA3_uc002xtn.2_Missense_Mutation_p.R1051I|NCOA3_uc010zyc.1_Missense_Mutation_p.R846I NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1051 Interaction with CREBBP. 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 ovary(3)|lung(1)|skin(1) 5 AGTGACGAAAGAGCATTATTG 0.473 PREX1 57580 broad.mit.edu 37 20 47266679 47266679 + Silent SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr20:47266679C>T uc002xtw.1 - 24 2906 c.2883G>A c.(2881-2883)CCG>CCA p.P961P PREX1_uc002xtv.1_Silent_p.P258P NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 961 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGCCACACAGCGGGTGGGGCT 0.592 SETD2 29072 broad.mit.edu 37 3 47161747 47161747 + Nonsense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr3:47161747C>T uc003cqs.2 - 3 4432 c.4379G>A c.(4378-4380)TGG>TAG p.W1460* SETD2_uc003cqv.2_Nonsense_Mutation_p.W1449* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1460 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACATTCCTTCCATCGCTGTGG 0.448 N|F|S|Mis clear cell renal carcinoma CCDC51 79714 broad.mit.edu 37 3 48475178 48475178 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr3:48475178C>T uc003csz.2 - 3 537 c.416G>A c.(415-417)CGT>CAT p.R139H CCDC51_uc003cta.2_Missense_Mutation_p.R30H|CCDC51_uc003ctb.2_Missense_Mutation_p.R30H|CCDC51_uc003ctc.2_Missense_Mutation_p.R139H|CCDC51_uc003ctd.2_Missense_Mutation_p.R30H NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 139 Potential. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCTGGAGACACGGTCCAAGCG 0.597 PDZRN3 23024 broad.mit.edu 37 3 73433731 73433731 + Silent SNP G A A rs142044798 TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr3:73433731G>A uc003dpl.1 - 10 2082 c.1986C>T c.(1984-1986)TAC>TAT p.Y662Y PDZRN3_uc011bgh.1_Silent_p.Y319Y|PDZRN3_uc010hoe.1_Silent_p.Y360Y|PDZRN3_uc011bgf.1_Silent_p.Y379Y|PDZRN3_uc011bgg.1_Silent_p.Y382Y NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 662 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AGTACAGGCCGTAAGGGGTGG 0.657 GCET2 257144 broad.mit.edu 37 3 111842417 111842417 + Missense_Mutation SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr3:111842417G>A uc003dys.1 - 6 572 c.422C>T c.(421-423)GCC>GTC p.A141V C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_Missense_Mutation_p.A75V NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 141 mitochondrion 0 TGGGGATCGGGCATGCCTGGG 0.458 CCDC149 91050 broad.mit.edu 37 4 24838869 24838869 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr4:24838869C>T uc011bxr.1 - 7 787 c.643G>A c.(643-645)GCC>ACC p.A215T CCDC149_uc003grc.2_Missense_Mutation_p.A215T|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Intron|CCDC149_uc003gre.2_Missense_Mutation_p.A160T|CCDC149_uc011bxq.1_Missense_Mutation_p.A88T NM_173463 NP_775734 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 isoform 1 215 0 Breast(46;0.173) ATACACAGGGCGTCCACGTCA 0.582 SLC4A4 8671 broad.mit.edu 37 4 72319251 72319251 + Silent SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr4:72319251G>A uc003hfy.2 + 12 1479 c.1362G>A c.(1360-1362)GCG>GCA p.A454A SLC4A4_uc010iic.2_Silent_p.A454A|SLC4A4_uc010iib.2_Silent_p.A454A|SLC4A4_uc003hfz.2_Silent_p.A454A|SLC4A4_uc003hgc.3_Silent_p.A410A|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Silent_p.A332A|SLC4A4_uc003hgb.3_Silent_p.A410A NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 454 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAGGAAAGCGCCATTTTTTG 0.343 ADAMTS16 170690 broad.mit.edu 37 5 5182257 5182257 + Frame_Shift_Del DEL C - - TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr5:5182257delC uc003jdl.2 + 4 740 c.602delC c.(601-603)TCCfs p.S201fs ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.S201fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.S201fs NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 201 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 AGCTCGCCATCCCACGTACTG 0.567 SLCO6A1 133482 broad.mit.edu 37 5 101813473 101813473 + Missense_Mutation SNP T C C TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr5:101813473T>C uc003knn.2 - 3 881 c.709A>G c.(709-711)ACT>GCT p.T237A SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.T237A|SLCO6A1_uc003knq.2_Intron NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 237 Helical; Name=4; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CCCTGCACAGTCTGCCCAAGG 0.393 LARP1 23367 broad.mit.edu 37 5 154169931 154169932 + Frame_Shift_Del DEL GC - - TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr5:154169931_154169932delGC uc003lvp.2 + 2 912_913 c.483_484delGC c.(481-486)CAGCGCfs p.Q161fs LARP1_uc003lvo.2_Frame_Shift_Del_p.Q84fs|LARP1_uc010jie.1_5'UTR NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 161_162 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTCCTAAACAGCGCAAAGGCAG 0.520 MGAT4B 11282 broad.mit.edu 37 5 179225986 179225986 + Missense_Mutation SNP T G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr5:179225986T>G uc003mks.2 - 11 1654 c.1285A>C c.(1285-1287)ACC>CCC p.T429P MGAT4B_uc003mkp.2_Missense_Mutation_p.T283P|MGAT4B_uc003mkq.2_Missense_Mutation_p.H204P|MGAT4B_uc003mkr.2_Missense_Mutation_p.T444P|MIR1229_hsa-mir-1229|MI0006319_5'Flank NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 429 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGGCAGGGGTGAAGGCCCAG 0.627 ZFP57 346171 broad.mit.edu 37 6 29640903 29640903 + Missense_Mutation SNP A G G TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr6:29640903A>G uc011dlw.1 - 4 1136 c.985T>C c.(985-987)TCC>CCC p.S329P ZFP57_uc003nnl.3_Missense_Mutation_p.S309P NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 245 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 GGTTCCTGGGACCTGGCCACT 0.562 RSPO3 84870 broad.mit.edu 37 6 127471594 127471594 + Missense_Mutation SNP T A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr6:127471594T>A uc003qar.2 + 3 603 c.313T>A c.(313-315)TGT>AGT p.C105S RSPO3_uc003qas.1_Missense_Mutation_p.C105S NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 105 FU 2. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) CTGTGATACCTGTTTCAACAA 0.373 PLEKHG1 57480 broad.mit.edu 37 6 151151882 151151882 + Silent SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr6:151151882C>T uc003qny.1 + 16 1947 c.1635C>T c.(1633-1635)AGC>AGT p.S545S PLEKHG1_uc011eel.1_Silent_p.S585S|PLEKHG1_uc011eem.1_Silent_p.S604S|PLEKHG1_uc003qnz.2_Silent_p.S545S NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 545 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TGTTTCCCAGCCGACGGTCCC 0.517 WTAP 9589 broad.mit.edu 37 6 160157288 160157288 + Splice_Site SNP A T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr6:160157288A>T uc003qsl.2 + 2 215 c.-7_splice c.e2-2 WTAP_uc010kjx.2_Splice_Site|WTAP_uc003qsk.2_Splice_Site|WTAP_uc003qsm.1_Splice_Site|WTAP_uc003qsn.2_Splice_Site NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TTTTTTTTTTAGGATTCAAGA 0.318 OR2A14 135941 broad.mit.edu 37 7 143826382 143826382 + Nonsense_Mutation SNP C A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr7:143826382C>A uc011kua.1 + 1 177 c.177C>A c.(175-177)TAC>TAA p.Y59* NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CACCCATGTACTTCTTCCTCT 0.478 SCARA3 51435 broad.mit.edu 37 8 27516827 27516827 + Silent SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr8:27516827C>T uc003xga.1 + 5 1281 c.1140C>T c.(1138-1140)GAC>GAT p.D380D SCARA3_uc003xgb.1_Silent_p.D380D NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 380 Extracellular (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) ACCTGGATGACGTGCGGCTCT 0.557 KCNU1 157855 broad.mit.edu 37 8 36663813 36663813 + Silent SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr8:36663813G>A uc010lvw.2 + 5 582 c.495G>A c.(493-495)AAG>AAA p.K165K KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 165 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACAAGATCAAGTTCTGGCTGG 0.358 ANGPT1 284 broad.mit.edu 37 8 108334165 108334165 + Missense_Mutation SNP T C C TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr8:108334165T>C uc003ymn.2 - 4 1235 c.767A>G c.(766-768)GAC>GGC p.D256G ANGPT1_uc011lhv.1_Missense_Mutation_p.D56G|ANGPT1_uc003ymo.2_Missense_Mutation_p.D256G|ANGPT1_uc003ymp.3_Missense_Mutation_p.D56G NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 256 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GTGGACTGTGTCCATCAGCTC 0.388 TESK1 7016 broad.mit.edu 37 9 35606965 35606965 + Silent SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr9:35606965C>T uc003zxa.2 + 4 858 c.522C>T c.(520-522)CGC>CGT p.R174R TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.A42V NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 174 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TATTTCACCGCGACCTCACAT 0.567 TRPM3 80036 broad.mit.edu 37 9 73230918 73230918 + Missense_Mutation SNP A T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chr9:73230918A>T uc004aid.2 - 17 2640 c.2396T>A c.(2395-2397)ATG>AAG p.M799K TRPM3_uc004ahu.2_Missense_Mutation_p.M629K|TRPM3_uc004ahv.2_Missense_Mutation_p.M601K|TRPM3_uc004ahw.2_Missense_Mutation_p.M671K|TRPM3_uc004ahx.2_Missense_Mutation_p.M658K|TRPM3_uc004ahy.2_Missense_Mutation_p.M661K|TRPM3_uc004ahz.2_Missense_Mutation_p.M648K|TRPM3_uc004aia.2_Missense_Mutation_p.M646K|TRPM3_uc004aib.2_Missense_Mutation_p.M636K|TRPM3_uc004aic.2_Missense_Mutation_p.M799K NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 824 Extracellular (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GGCCTGAGACATATAGGGCAT 0.413 HSD17B10 3028 broad.mit.edu 37 X 53459205 53459205 + Missense_Mutation SNP C T T TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chrX:53459205C>T uc004dsl.1 - 3 378 c.347G>A c.(346-348)CGA>CAA p.R116Q HSD17B10_uc004dsm.1_Missense_Mutation_p.R116Q NM_004493 NP_004484 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 116 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity 0 NADH(DB00157) ATCAAGAACTCGCTGGAAGTC 0.507 ATRX 546 broad.mit.edu 37 X 76944376 76944376 + Nonsense_Mutation SNP G A A TCGA-06-0221-02A-11D-2280-08 TCGA-06-0221-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b2d17671-d2e1-4c97-8b01-a976d5abe1d6 67c0eef0-2582-4e85-98eb-6e9d3755440d g.chrX:76944376G>A uc004ecp.3 - 7 761 c.529C>T c.(529-531)CAG>TAG p.Q177* ATRX_uc004ecq.3_Nonsense_Mutation_p.Q139*|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q138*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q177*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q122* NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 177 ADD.|GATA-type; atypical. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TGATTGACCTGTTGTCCACAA 0.338 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome