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 RERE 473 broad.mit.edu 37 1 8420616 8420616 + Missense_Mutation SNP T G G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:8420616T>G uc001ape.2 - 19 3761 c.2951A>C c.(2950-2952)CAC>CCC p.H984P RERE_uc001apf.2_Missense_Mutation_p.H984P|RERE_uc010nzx.1_Missense_Mutation_p.H716P|RERE_uc001apd.2_Missense_Mutation_p.H430P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 984 Pro-rich. H -> N (in Ref. 2; no nucleotide entry). multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGGTGGGGGGTGAGCCGACGG 0.701 APITD1 378708 broad.mit.edu 37 1 10511616 10511616 + Missense_Mutation SNP G T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:10511616G>T uc001arf.2 + 5 875 c.459G>T c.(457-459)AGG>AGT p.R153S APITD1_uc001arg.2_3'UTR|CORT_uc001ari.2_Missense_Mutation_p.R144S NM_198544 NP_940946 Q8N2Z9 CENPS_HUMAN apoptosis-inducing, TAF9-like domain 1 isoform Error:Variant_position_missing_in_Q8N2Z9_after_alignment DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) TGCCCTGCAGGAACTTCTTCT 0.567 RSPO1 284654 broad.mit.edu 37 1 38082340 38082340 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:38082340G>A uc001cbl.1 - 5 890 c.102C>T c.(100-102)GCC>GCT p.A34A RSPO1_uc001cbm.1_Silent_p.A34A|RSPO1_uc009vvf.1_Silent_p.A7A|RSPO1_uc009vvg.1_Silent_p.A34A NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 34 FU 1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCTCCCCTCGGCACTGACTG 0.557 RPL5 6125 broad.mit.edu 37 1 93301897 93301898 + Frame_Shift_Ins INS - T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:93301897_93301898insT uc001doz.2 + 5 553_554 c.475_476insT c.(475-477)GTTfs p.V159fs FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 159 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGGCAATAAAGTTTTTGGTGCC 0.495 HIPK1 204851 broad.mit.edu 37 1 114515777 114515777 + Silent SNP G T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:114515777G>T uc001eem.2 + 16 3437 c.3276G>T c.(3274-3276)TCG>TCT p.S1092S HIPK1_uc001een.2_Silent_p.S1092S|HIPK1_uc001eeo.2_Silent_p.S718S|HIPK1_uc001eep.2_Silent_p.S698S|HIPK1_uc001eeq.2_Silent_p.S384S NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 1092 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGCTACACTCGACAGGGCACC 0.647 CD2 914 broad.mit.edu 37 1 117311264 117311264 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:117311264G>A uc001egu.3 + 5 944 c.915G>A c.(913-915)CAG>CAA p.Q305Q NM_001767 NP_001758 P06729 CD2_HUMAN CD2 molecule precursor 305 Cytoplasmic (Potential).|Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity breast(1) 1 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) ACCGTGTTCAGCACCAGCCTC 0.622 TCHH 7062 broad.mit.edu 37 1 152084995 152084995 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:152084995C>T uc001ezp.2 - 2 698 c.698G>A c.(697-699)CGG>CAG p.R233Q TCHH_uc009wne.1_Missense_Mutation_p.R233Q NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 233 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGTCTTGCCGCTCTCGCCT 0.577 PAPPA2 60676 broad.mit.edu 37 1 176526161 176526161 + Missense_Mutation SNP C A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:176526161C>A uc001gkz.2 + 2 1867 c.703C>A c.(703-705)CCA>ACA p.P235T PAPPA2_uc001gky.1_Missense_Mutation_p.P235T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 235 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CAAAAAGAGTCCACCGGAGGA 0.527 OR11L1 391189 broad.mit.edu 37 1 248004304 248004304 + Nonsense_Mutation SNP C A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:248004304C>A uc001idn.1 - 1 895 c.895G>T c.(895-897)GAA>TAA p.E299* NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTAACAGCTTCTTTGAAGTCT 0.393 AGAP6 414189 broad.mit.edu 37 10 51768724 51768724 + Missense_Mutation SNP G C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr10:51768724G>C uc001jix.3 + 8 1237 c.839G>C c.(838-840)AGA>ACA p.R280T NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 280 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 GGGAGCGGTAGAGCCATCCCC 0.507 PTEN 5728 broad.mit.edu 37 10 89692835 89692835 + Missense_Mutation SNP G C C rs57374291 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr10:89692835G>C uc001kfb.2 + 6 1350 c.319G>C c.(319-321)GAT>CAT p.D107H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 107 Phosphatase tensin-type. D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.D107Y(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(1)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTTTTGTGAAGATCTTGACCA 0.368 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) BNIP3 664 broad.mit.edu 37 10 133787377 133787377 + Nonsense_Mutation SNP A T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr10:133787377A>T uc001lkv.1 - 2 243 c.117T>A c.(115-117)TAT>TAA p.Y39* BNIP3_uc010qut.1_Nonsense_Mutation_p.Y39* NM_004052 NP_004043 Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kD-interacting protein 3 39 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity lung(1)|skin(1) 2 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGTCTCCATTATAAATAGAAA 0.517 MRGPRX4 117196 broad.mit.edu 37 11 18195500 18195500 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:18195500G>A uc001mnv.1 + 1 1117 c.697G>A c.(697-699)GGC>AGC p.G233S NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 233 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CCTGCCCTTCGGCATTCTGGG 0.527 LRRC4C 57689 broad.mit.edu 37 11 40137192 40137192 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:40137192C>T uc001mxa.1 - 2 2615 c.651G>A c.(649-651)CCG>CCA p.P217P LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxb.1_Silent_p.P213P NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 217 LRR 6. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GTTTTATGAGCGGTGTGAGGT 0.458 LRRC55 219527 broad.mit.edu 37 11 56950084 56950084 + Missense_Mutation SNP T A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:56950084T>A uc001njl.1 + 1 864 c.717T>A c.(715-717)AAT>AAA p.N239K NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 209 LRRCT. integral to membrane 0 TCGGTGGCAATCCCTGGGTGT 0.632 DAGLA 747 broad.mit.edu 37 11 61511858 61511858 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:61511858G>A uc001nsa.2 + 20 3137 c.3026G>A c.(3025-3027)AGT>AAT p.S1009N NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 1009 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) ACGGGCCTCAGTAGCCAGGAA 0.657 STX5 6811 broad.mit.edu 37 11 62593006 62593006 + Missense_Mutation SNP G C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:62593006G>C uc001nvh.2 - 6 583 c.429C>G c.(427-429)ATC>ATG p.I143M STX5_uc010rmi.1_Missense_Mutation_p.I47M|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.I89M|STX5_uc010rmj.1_Missense_Mutation_p.I143M|STX5_uc001nvj.2_Translation_Start_Site NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 143 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 TGAGGCTATTGATGTCCTGGT 0.507 NUMA1 4926 broad.mit.edu 37 11 71717271 71717271 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:71717271C>T uc001orl.1 - 22 5674 c.5502G>A c.(5500-5502)TCG>TCA p.S1834S NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1834 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TGCTGTAGAACGATGAGTTGG 0.552 T RARA APL FOLR4 390243 broad.mit.edu 37 11 94040846 94040846 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:94040846G>A uc010rud.1 + 4 720 c.720G>A c.(718-720)CCG>CCA p.P240P NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 247 extracellular region folic acid binding|receptor activity ovary(1) 1 TGTTCCTGCCGTTCCTTTCCT 0.617 BCAT1 586 broad.mit.edu 37 12 25047326 25047326 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:25047326C>T uc001rgd.3 - 3 604 c.162G>A c.(160-162)ACG>ACA p.T54T BCAT1_uc001rgc.2_Silent_p.T53T|BCAT1_uc010six.1_Silent_p.T66T|BCAT1_uc010siy.1_Silent_p.T54T|BCAT1_uc001rge.3_Silent_p.T30T NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 54 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GCATATGATCCGTGAACACAG 0.453 CIT 11113 broad.mit.edu 37 12 120142198 120142198 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:120142198G>A uc001txi.1 - 40 5201 c.5148C>T c.(5146-5148)AAC>AAT p.N1716N CIT_uc001txh.1_Silent_p.N1235N|CIT_uc001txj.1_Silent_p.N1758N NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1716 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGAGGTTTTCGTTGTAGCGGA 0.512 AACS 65985 broad.mit.edu 37 12 125621257 125621257 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:125621257C>T uc001uhc.2 + 17 1934 c.1728C>T c.(1726-1728)AAC>AAT p.N576N AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Silent_p.N174N NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 576 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CCCAGTATAACAAGTACAGGG 0.597 GALNT9 50614 broad.mit.edu 37 12 132688129 132688129 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:132688129C>T uc001ukc.3 - 7 1300 c.1184G>A c.(1183-1185)CGC>CAC p.R395H GALNT9_uc009zyr.2_Missense_Mutation_p.R169H|GALNT9_uc001ukb.2_Missense_Mutation_p.R252H|GALNT9_uc001uka.2_Missense_Mutation_p.R29H NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 395 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CAGGGCGTTGCGCTTGGCATA 0.637 HTR2A 3356 broad.mit.edu 37 13 47466570 47466570 + Missense_Mutation SNP T C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr13:47466570T>C uc001vbq.2 - 2 702 c.568A>G c.(568-570)ACT>GCT p.T190A HTR2A_uc001vbr.2_Missense_Mutation_p.T90A|HTR2A_uc010acr.2_Missense_Mutation_p.T190A NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 190 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AATGCCTTAGTTCTGGAGTTG 0.493 DIS3 22894 broad.mit.edu 37 13 73355005 73355005 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr13:73355005G>A uc001vix.3 - 2 739 c.365C>T c.(364-366)ACT>ATT p.T122I PIBF1_uc001vja.1_5'Flank|PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.2_5'Flank|PIBF1_uc001vjc.2_5'Flank|PIBF1_uc010aep.2_5'Flank|DIS3_uc001viy.3_Intron|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 122 PINc. CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTAGTGAAAGTATAGAAATG 0.388 Multiple Myeloma(4;0.011) KIAA0430 9665 broad.mit.edu 37 16 15692768 15692768 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:15692768C>T uc002ddr.2 - 26 5120 c.4927G>A c.(4927-4929)GTT>ATT p.V1643I KIAA0430_uc002ddq.2_Missense_Mutation_p.V1477I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V1639I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V1642I NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1642 peroxisome nucleotide binding|RNA binding 0 TGGAGGATAACGGGGTCTGGT 0.592 VPS35 55737 broad.mit.edu 37 16 46694426 46694426 + Silent SNP T G G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:46694426T>G uc002eef.3 - 17 2448 c.2349A>C c.(2347-2349)TCA>TCC p.S783S VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Silent_p.S744S NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 783 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CGGATTCTGGTGATTCCCGCC 0.438 ABCC11 85320 broad.mit.edu 37 16 48247385 48247385 + Missense_Mutation SNP G A A rs148839428 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:48247385G>A uc002eff.1 - 9 1675 c.1325C>T c.(1324-1326)ACG>ATG p.T442M ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 442 Cytoplasmic (Potential).|ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTTGGAATTCGTGAGACCTTT 0.552 Cerumen_Type CNGB1 1258 broad.mit.edu 37 16 57993926 57993926 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:57993926G>A uc002emt.2 - 10 692 c.627C>T c.(625-627)GCC>GCT p.A209A CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 209 Pro-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GGGTCTCCCGGGCCTGCAGCT 0.687 SMTNL2 342527 broad.mit.edu 37 17 4496362 4496362 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr17:4496362G>A uc002fyf.1 + 3 693 c.626G>A c.(625-627)GGG>GAG p.G209E SMTNL2_uc002fye.2_Missense_Mutation_p.G65E NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 209 0 READ - Rectum adenocarcinoma(115;0.0325) AGGTTCTCTGGGGAGACCTCA 0.657 TMEM220 388335 broad.mit.edu 37 17 10628403 10628403 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr17:10628403G>A uc002gmx.2 - 4 690 c.212C>T c.(211-213)ACG>ATG p.T71M TMEM220_uc002gmy.2_Missense_Mutation_p.T61M NM_001004313 NP_001004313 Q6QAJ8 TM220_HUMAN transmembrane protein 220 71 Helical; (Potential). integral to membrane 0 AGCCCACACCGTACAAAAGAG 0.448 HAP1 9001 broad.mit.edu 37 17 39884047 39884047 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr17:39884047C>T uc002hxm.1 - 8 1254 c.1242G>A c.(1240-1242)TCG>TCA p.S414S JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S414S|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 414 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TTTCCTTCTCCGAAGCCAGCT 0.622 MUC16 94025 broad.mit.edu 37 19 9071728 9071728 + Missense_Mutation SNP T C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:9071728T>C uc002mkp.2 - 3 15922 c.15718A>G c.(15718-15720)AAG>GAG p.K5240E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5242 Thr-rich.|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 ACTGTGGACTTATCATGGTCT 0.478 CD22 933 broad.mit.edu 37 19 35832284 35832285 + Frame_Shift_Ins INS - T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:35832284_35832285insT uc010edt.2 + 8 1623_1624 c.1546_1547insT c.(1546-1548)CTTfs p.L516fs CD22_uc010xst.1_Frame_Shift_Ins_p.L344fs|CD22_uc010edu.2_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.2_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.3_Frame_Shift_Ins_p.L339fs|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 516 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AATCAAGCCCCTTTCCGAGATT 0.574 GLTSCR2 29997 broad.mit.edu 37 19 48259848 48259848 + Nonsense_Mutation SNP C T T rs141718194 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:48259848C>T uc002phm.2 + 11 1384 c.1360C>T c.(1360-1362)CGA>TGA p.R454* GLTSCR2_uc002phk.2_3'UTR|GLTSCR2_uc002phl.2_Nonsense_Mutation_p.R454*|GLTSCR2_uc010elj.2_Intron|GLTSCR2_uc010elk.1_RNA NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 454 EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). nucleolus central_nervous_system(1) 1 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) GATCGAGCCTCGAGAGAGAGC 0.632 NLRP12 91662 broad.mit.edu 37 19 54304629 54304629 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:54304629C>T uc002qch.3 - 7 2828 c.2608G>A c.(2608-2610)GCT>ACT p.A870T NLRP12_uc010eqw.2_Missense_Mutation_p.A153T|NLRP12_uc002qci.3_Missense_Mutation_p.A870T|NLRP12_uc002qcj.3_Missense_Mutation_p.A871T|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 870 LRR 2. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGGCAGCAGCAGTGAGGCGG 0.468 SMEK2 57223 broad.mit.edu 37 2 55791468 55791468 + Silent SNP C T T rs145292231 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr2:55791468C>T uc002rzc.2 - 15 2616 c.2241G>A c.(2239-2241)AAG>AAA p.K747K SMEK2_uc002rzb.2_Silent_p.K662K|SMEK2_uc002rzd.2_Silent_p.K715K|SMEK2_uc002ryz.2_Silent_p.K174K|SMEK2_uc002rza.2_Silent_p.K531K NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 747 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTCCATAAACTTTTCATAAT 0.333 TTN 7273 broad.mit.edu 37 2 179594120 179594120 + Missense_Mutation SNP T A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr2:179594120T>A uc010zfg.1 - 61 15255 c.15031A>T c.(15031-15033)AAC>TAC p.N5011Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1672Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5938 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) ATATGGAGGTTAAACACAGAC 0.463 INPP5D 3635 broad.mit.edu 37 2 233944058 233944058 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr2:233944058G>A uc010zmo.1 + 2 301 c.148G>A c.(148-150)GTT>ATT p.V50I INPP5D_uc010zmp.1_Missense_Mutation_p.V50I NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 50 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCGGAATTGCGTTTACACTTA 0.403 C20orf191 149934 broad.mit.edu 37 20 26094557 26094557 + Silent SNP A C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr20:26094557A>C uc002wvj.3 - 1 121 c.66T>G c.(64-66)CCT>CCG p.P22P NR_003678 SubName: Full=Putative uncharacterized protein ENSP00000323172; 0 TTACAGAGTGAGGAGGATAAT 0.418 WFDC13 164237 broad.mit.edu 37 20 44334525 44334525 + Missense_Mutation SNP T C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr20:44334525T>C uc002xpd.2 + 3 371 c.263T>C c.(262-264)GTC>GCC p.V88A WFDC10B_uc002xpb.2_5'Flank|WFDC10B_uc002xpc.2_5'Flank NM_172005 NP_742002 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 precursor 88 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GGCTCAGAAGTCATCATGCCT 0.353 LRRC3B 116135 broad.mit.edu 37 3 26751911 26751911 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:26751911G>A uc003cdp.2 + 2 1337 c.748G>A c.(748-750)GAT>AAT p.D250N LRRC3B_uc003cdq.2_Missense_Mutation_p.D250N NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 250 integral to membrane pancreas(2)|ovary(1)|skin(1) 4 GAAGAAAGCAGATGAACCTGA 0.418 AZI2 64343 broad.mit.edu 37 3 28381958 28381958 + Nonsense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:28381958G>A uc003ceb.2 - 2 683 c.151C>T c.(151-153)CGA>TGA p.R51* AZI2_uc003cec.2_Translation_Start_Site|AZI2_uc003ced.2_Nonsense_Mutation_p.R51*|AZI2_uc003cee.3_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003cef.2_Nonsense_Mutation_p.R51* NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 51 Potential. mitochondrion|plasma membrane ovary(2) 2 TCCTTAAGTCGTTTTTTGATG 0.338 IMPG2 50939 broad.mit.edu 37 3 100951684 100951684 + Silent SNP A G G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:100951684A>G uc003duq.1 - 15 3377 c.3174T>C c.(3172-3174)CCT>CCC p.P1058P IMPG2_uc011bhe.1_Silent_p.P921P|IMPG2_uc010hpj.1_RNA NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1058 Extracellular (Potential).|EGF-like 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AGCAGAAGTCAGGCTGTAGGT 0.488 DZIP3 9666 broad.mit.edu 37 3 108353719 108353719 + Missense_Mutation SNP G T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:108353719G>T uc003dxd.2 + 10 1240 c.818G>T c.(817-819)GGA>GTA p.G273V DZIP3_uc003dxf.1_Missense_Mutation_p.G273V|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.G273V|DZIP3_uc003dxg.1_5'UTR NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 273 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTTTTCCAGGGATTTTTTCAG 0.254 COL29A1 256076 broad.mit.edu 37 3 130159044 130159044 + Silent SNP T C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:130159044T>C uc010htj.1 + 35 6356 c.5862T>C c.(5860-5862)GCT>GCC p.A1954A COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_5'UTR NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 1954 VWFA 8.|Nonhelical region. axon guidance|cell adhesion collagen 0 TTCGAGAGGCTTTCTTACCTG 0.403 CEP70 80321 broad.mit.edu 37 3 138289888 138289888 + Missense_Mutation SNP T C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:138289888T>C uc003esl.2 - 5 470 c.272A>G c.(271-273)AAT>AGT p.N91S CEP70_uc011bmk.1_Missense_Mutation_p.N71S|CEP70_uc011bml.1_Missense_Mutation_p.N73S|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Missense_Mutation_p.N91S|CEP70_uc003esn.2_Missense_Mutation_p.N91S NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 91 Potential. G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 AAGCTGTTGATTAGTTTCTAT 0.318 PHC3 80012 broad.mit.edu 37 3 169840418 169840418 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:169840418C>T uc010hws.1 - 9 1931 c.1867G>A c.(1867-1869)GGG>AGG p.G623R PHC3_uc003fgl.2_Missense_Mutation_p.G635R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 623 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TCTCCTCTCCCCACTGTTATA 0.393 FNDC3B 64778 broad.mit.edu 37 3 172096143 172096143 + Missense_Mutation SNP A G G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:172096143A>G uc003fhy.2 + 24 3264 c.3092A>G c.(3091-3093)CAG>CGG p.Q1031R FNDC3B_uc003fhz.3_Missense_Mutation_p.Q1031R NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1031 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTCAGAATCCAGGCAGCAAGC 0.493 SH3TC1 54436 broad.mit.edu 37 4 8229589 8229589 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:8229589C>T uc003gkv.3 + 12 2269 c.2168C>T c.(2167-2169)CCC>CTC p.P723L SH3TC1_uc003gkw.3_Missense_Mutation_p.P647L|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 723 binding large_intestine(2)|pancreas(1) 3 AAGTGCCTGCCCCACCTGGTG 0.657 DRD5 1816 broad.mit.edu 37 4 9784937 9784937 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:9784937C>T uc003gmb.3 + 1 1680 c.1284C>T c.(1282-1284)GAC>GAT p.D428D NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 428 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGGACAACGACGAGGAGGAGG 0.582 KIAA1211 57482 broad.mit.edu 37 4 57181748 57181748 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:57181748G>A uc003hbk.2 + 8 2471 c.2080G>A c.(2080-2082)GGT>AGT p.G694S KIAA1211_uc010iha.2_Missense_Mutation_p.G687S|KIAA1211_uc011bzz.1_Missense_Mutation_p.G604S|KIAA1211_uc003hbm.1_Missense_Mutation_p.G580S NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 694 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GTTGAGGCCCGGTGATGAGTC 0.602 OTUD4 54726 broad.mit.edu 37 4 146077118 146077118 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:146077118C>T uc003ika.3 - 8 603 c.465G>A c.(463-465)GTG>GTA p.V155V OTUD4_uc003ijz.3_Silent_p.V155V NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 220 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) TAAATCCATTCACATCAGCAG 0.328 EFNA5 1946 broad.mit.edu 37 5 106762936 106762936 + Nonsense_Mutation SNP G A A rs142282920 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr5:106762936G>A uc003kol.2 - 2 682 c.400C>T c.(400-402)CGA>TGA p.R134* EFNA5_uc010jbr.1_Nonsense_Mutation_p.R134* NM_001962 NP_001953 P52803 EFNA5_HUMAN ephrin-A5 precursor 134 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding 0 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) AAATATTCTCGGCCTGGCCTG 0.428 TBC1D9B 23061 broad.mit.edu 37 5 179315134 179315134 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr5:179315134C>T uc003mlh.2 - 7 1260 c.1223G>A c.(1222-1224)AGG>AAG p.R408K TBC1D9B_uc003mli.2_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R408K NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 408 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTGGCTTTCCTGCTCCCGAT 0.567 KHDRBS2 202559 broad.mit.edu 37 6 62604633 62604633 + Silent SNP T A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr6:62604633T>A uc003peg.2 - 6 964 c.717A>T c.(715-717)GCA>GCT p.A239A NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 239 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) GGACACCTCTTGCTACAGGTG 0.607 GPR85 54329 broad.mit.edu 37 7 112724285 112724288 + Frame_Shift_Del DEL TGAG - - TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr7:112724285_112724288delTGAG uc010ljv.2 - 2 1006_1009 c.489_492delCTCA c.(487-492)TACTCAfs p.Y163fs GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 163_164 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 CCCTAATGAATGAGTAAGTGCCCA 0.500 GIMAP6 474344 broad.mit.edu 37 7 150325381 150325381 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr7:150325381G>A uc003whn.2 - 3 729 c.305C>T c.(304-306)CCC>CTC p.P102L GIMAP6_uc003whm.2_Intron NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 102 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGACCTGGGGGGACAGAAT 0.622 ABP1 26 broad.mit.edu 37 7 150554420 150554420 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr7:150554420C>T uc003why.1 + 3 5080 c.862C>T c.(862-864)CGC>TGC p.R288C ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 288 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CCACAAGCCCCGCGGGGACTT 0.697 CPA6 57094 broad.mit.edu 37 8 68419124 68419124 + Splice_Site SNP C G G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr8:68419124C>G uc003xxq.3 - 6 791 c.535_splice c.e6-1 p.L179_splice CPA6_uc003xxr.3_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GTCTGCCCAGCTGAAAACAAG 0.408 CDH17 1015 broad.mit.edu 37 8 95189845 95189845 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr8:95189845G>A uc003ygh.2 - 4 380 c.255C>T c.(253-255)GAC>GAT p.D85D CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 85 Extracellular (Potential).|Cadherin 1. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGTTTCCCTGTCCAAGGCTC 0.458 NFIB 4781 broad.mit.edu 37 9 14307244 14307244 + Silent SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:14307244C>T uc003zle.2 - 2 741 c.306G>A c.(304-306)CCG>CCA p.P102P NFIB_uc003zlf.2_Silent_p.P102P|NFIB_uc011lmo.1_Silent_p.P102P NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 102 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AGACACAGCACGGGTGCTTCT 0.527 T MYB|HGMA2 adenoid cystic carcinoma|lipoma SHB 6461 broad.mit.edu 37 9 37948668 37948668 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:37948668C>T uc004aax.2 - 5 1878 c.1310G>A c.(1309-1311)AGC>AAC p.S437N NM_003028 NP_003019 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein 437 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|skin(1) 3 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCTGGTCTGGCTGTTCCGGAC 0.647 ALDOB 229 broad.mit.edu 37 9 104187273 104187273 + Missense_Mutation SNP A T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:104187273A>T uc004bbk.2 - 8 933 c.851T>A c.(850-852)CTC>CAC p.L284H NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 284 L -> P (in HFI). fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) GATAGCATTGAGGTTGAGAGT 0.517 PTGS1 5742 broad.mit.edu 37 9 125146014 125146014 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:125146014C>T uc004bmg.1 + 8 1124 c.989C>T c.(988-990)ACG>ATG p.T330M PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 330 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CTTTTCCAGACGACCCGCCTC 0.607 COQ4 51117 broad.mit.edu 37 9 131088069 131088069 + Missense_Mutation SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:131088069G>A uc004bur.3 + 4 658 c.311G>A c.(310-312)CGG>CAG p.R104Q COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc004bus.2_Missense_Mutation_p.R80Q|COQ4_uc010mxy.2_Missense_Mutation_p.R80Q NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN coenzyme Q4 homolog precursor 104 ubiquinone biosynthetic process mitochondrial inner membrane 0 GAGCGTCCCCGGATTTCGACA 0.587 KLHL15 80311 broad.mit.edu 37 X 24006559 24006559 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:24006559C>T uc004dba.3 - 4 1550 c.1294G>A c.(1294-1296)GGT>AGT p.G432S NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 432 Kelch 3. ovary(1)|breast(1) 2 GTGATTCCACCGGTGATAAAC 0.443 FGD1 2245 broad.mit.edu 37 X 54496521 54496521 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:54496521G>A uc004dtg.2 - 4 1763 c.1029C>T c.(1027-1029)GAC>GAT p.D343D FGD1_uc011moi.1_Silent_p.D101D NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 343 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 cctcctcgtcgtcctcctcct 0.507 ZMYM3 9203 broad.mit.edu 37 X 70467290 70467290 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:70467290C>T uc004dzh.1 - 13 2306 c.2219G>A c.(2218-2220)CGT>CAT p.R740H BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.R740H|ZMYM3_uc004dzj.1_Missense_Mutation_p.R740H NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 740 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GCAGAAATGACGGATCTGCCC 0.582 CAPN6 827 broad.mit.edu 37 X 110494147 110494147 + Missense_Mutation SNP G T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:110494147G>T uc004epc.1 - 8 1324 c.1156C>A c.(1156-1158)CAG>AAG p.Q386K CAPN6_uc011msu.1_Missense_Mutation_p.Q131K NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 386 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 ACTCAAACCTGGGGATTCTGC 0.453 DDX26B 203522 broad.mit.edu 37 X 134714081 134714081 + Missense_Mutation SNP G C C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:134714081G>C uc004eyw.3 + 15 2740 c.2377G>C c.(2377-2379)GGT>CGT p.G793R DDX26B_uc004eyx.3_Missense_Mutation_p.G394R NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 793 0 Acute lymphoblastic leukemia(192;6.56e-05) TCGAAAGTTTGGTCGAAGTAA 0.373 GPR101 83550 broad.mit.edu 37 X 136113330 136113330 + Silent SNP G A A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:136113330G>A uc011mwh.1 - 1 504 c.504C>T c.(502-504)TAC>TAT p.Y168Y NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 168 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GGCCCCAGCCGTAGAGTGGAG 0.607 SOX3 6658 broad.mit.edu 37 X 139587063 139587063 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:139587063C>T uc004fbd.1 - 1 163 c.163G>A c.(163-165)GCT>ACT p.A55T NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 55 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GGGGCTGGAGCGGCCACGGTG 0.667 SLITRK2 84631 broad.mit.edu 37 X 144906039 144906039 + Missense_Mutation SNP C T T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:144906039C>T uc004fcd.2 + 5 3086 c.2096C>T c.(2095-2097)CCC>CTC p.P699L SLITRK2_uc010nsp.2_Missense_Mutation_p.P699L|SLITRK2_uc010nso.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.1_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.1_Missense_Mutation_p.P699L|SLITRK2_uc011mws.1_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.1_Missense_Mutation_p.P699L|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 699 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAAAACCCCATCTACATG 0.478 GPR50 9248 broad.mit.edu 37 X 150348278 150348278 + Missense_Mutation SNP A G G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:150348278A>G uc010ntg.1 + 2 358 c.223A>G c.(223-225)ATG>GTG p.M75V uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.M75V NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 75 Helical; Name=2; (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGTGGCCGATATGCTGGTGGC 0.507