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 KDM1A 23028 broad.mit.edu 37 1 23381588 23381589 + Frame_Shift_Del DEL CA - - TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr1:23381588_23381589delCA uc001bgi.2 + 5 906_907 c.757_758delCA c.(757-759)CACfs p.H253fs KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 253 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 CCACCGAGTTCACAGTTATTTA 0.371 TARS2 80222 broad.mit.edu 37 1 150471051 150471051 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr1:150471051C>T uc001euq.2 + 11 1319 c.1312C>T c.(1312-1314)CGG>TGG p.R438W TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.R356W|TARS2_uc009wlt.2_Missense_Mutation_p.R64W|TARS2_uc009wls.2_Missense_Mutation_p.R308W NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 438 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GGCTCTACACCGGGCCGAAGC 0.632 TRIM11 81559 broad.mit.edu 37 1 228582635 228582635 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr1:228582635G>A uc001hss.2 - 6 1433 c.1178C>T c.(1177-1179)GCC>GTC p.A393V TRIM11_uc010pvx.1_Missense_Mutation_p.A392V NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 393 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding lung(3)|ovary(1) 4 Prostate(94;0.0724) TGGAGCCAAGGCCCGTTCCGA 0.597 COG2 22796 broad.mit.edu 37 1 230820980 230820980 + Missense_Mutation SNP G C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr1:230820980G>C uc001htw.2 + 12 1529 c.1378G>C c.(1378-1380)GAG>CAG p.E460Q COG2_uc001htx.2_Missense_Mutation_p.E460Q|COG2_uc010pwc.1_Missense_Mutation_p.E333Q NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 460 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GTTTGTCAATGAGGTAAGGGC 0.423 Unknown 0 broad.mit.edu 37 10 49218553 49218553 + Missense_Mutation SNP T C C rs77581903 TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr10:49218553T>C uc001jgd.2 - 8 1745 c.1586A>G c.(1585-1587)CAT>CGT p.H529R uc001jge.1_5'Flank RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975; ATATTTGGAATGGATCCAGCG 0.567 PTEN 5728 broad.mit.edu 37 10 89692835 89692835 + Missense_Mutation SNP G T T rs57374291 TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr10:89692835G>T uc001kfb.2 + 6 1350 c.319G>T c.(319-321)GAT>TAT p.D107Y 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) NFKB2 4791 broad.mit.edu 37 10 104158521 104158521 + Silent SNP G T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr10:104158521G>T uc001kvb.2 + 12 1282 c.1017G>T c.(1015-1017)CGG>CGT p.R339R NFKB2_uc001kva.2_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.2_Silent_p.R339R|NFKB2_uc009xxc.2_Silent_p.R339R NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 339 RHD.|Nuclear localization signal (Potential). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) AGCGGAAGCGGAGGAAGGCCT 0.637 T IGH@ B-NHL MUC5B 727897 broad.mit.edu 37 11 1158988 1158988 + Missense_Mutation SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:1158988T>C uc009ycr.1 + 11 1292 c.1166T>C c.(1165-1167)GTC>GCC p.V389A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCGGCTGTGTCCCTGTGTCA 0.662 OR51L1 119682 broad.mit.edu 37 11 5020755 5020755 + Silent SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:5020755T>C uc010qyu.1 + 1 543 c.543T>C c.(541-543)TGT>TGC p.C181C NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACGCCTTCTGTTTGCACCAGG 0.473 OR4D6 219983 broad.mit.edu 37 11 59225156 59225156 + Silent SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:59225156G>A uc010rku.1 + 1 723 c.723G>A c.(721-723)ACG>ACA p.T241T NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACGTGCACGTCCCACATGC 0.557 OR4D11 219986 broad.mit.edu 37 11 59271382 59271382 + Missense_Mutation SNP A T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:59271382A>T uc001noa.1 + 1 334 c.334A>T c.(334-336)ATT>TTT p.I112F NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGGGCAGACATTTTTTCTCT 0.473 OR4D11 219986 broad.mit.edu 37 11 59271391 59271391 + Missense_Mutation SNP C G G TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:59271391C>G uc001noa.1 + 1 343 c.343C>G c.(343-345)CTC>GTC p.L115V NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CATTTTTTCTCTCTCTGTGAT 0.488 CHRDL2 25884 broad.mit.edu 37 11 74414523 74414523 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:74414523G>A uc001ovi.2 - 8 1026 c.773C>T c.(772-774)ACG>ATG p.T258M CHRDL2_uc001ovg.2_Missense_Mutation_p.T142M|CHRDL2_uc001ovh.2_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Intron Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 258 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) GTGGGAGTACGTCTTCCCGCC 0.657 EXPH5 23086 broad.mit.edu 37 11 108383232 108383232 + Frame_Shift_Del DEL C - - TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:108383232delC uc001pkk.2 - 6 3113 c.3002delG c.(3001-3003)AGCfs p.S1001fs EXPH5_uc010rvy.1_Frame_Shift_Del_p.S813fs|EXPH5_uc010rvz.1_Frame_Shift_Del_p.S845fs|EXPH5_uc010rwa.1_Frame_Shift_Del_p.S925fs NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1001 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCAATGAGGCTCCTGTGATC 0.363 SIK2 23235 broad.mit.edu 37 11 111590592 111590592 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:111590592G>A uc001plt.2 + 10 1478 c.1360G>A c.(1360-1362)GAA>AAA p.E454K NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 454 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 CTCCATTGACGAAGGGCTGGA 0.587 ZBTB44 29068 broad.mit.edu 37 11 130130851 130130851 + Silent SNP A T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr11:130130851A>T uc001qga.2 - 2 1312 c.918T>A c.(916-918)CCT>CCA p.P306P ZBTB44_uc001qgb.3_Silent_p.P306P|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Silent_p.P306P|ZBTB44_uc001qfz.2_Silent_p.P306P NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) ATGCACTGACAGGCTGGGACA 0.473 ANO2 57101 broad.mit.edu 37 12 5672695 5672695 + Missense_Mutation SNP T A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr12:5672695T>A uc001qnm.2 - 26 2839 c.2767A>T c.(2767-2769)ATT>TTT p.I923F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 928 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 ATGTCTGGAATCATCCAGTCC 0.527 PLEKHG6 55200 broad.mit.edu 37 12 6436676 6436676 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr12:6436676C>T uc001qnr.2 + 15 2075 c.1927C>T c.(1927-1929)CGC>TGC p.R643C PLEKHG6_uc010sew.1_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.1_Missense_Mutation_p.R611C NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 643 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 AGCTCCTCAACGCCGAAGCGC 0.642 HCFC2 29915 broad.mit.edu 37 12 104461817 104461817 + Silent SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr12:104461817T>C uc001tkj.3 + 3 508 c.405T>C c.(403-405)TAT>TAC p.Y135Y HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 135 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 TCTCTTTATATGGTAACAAAT 0.418 RB1 5925 broad.mit.edu 37 13 49039230 49039230 + Nonsense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr13:49039230C>T uc001vcb.2 + 22 2474 c.2308C>T c.(2308-2310)CAG>TAG p.Q770* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 770 Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(8)|p.L769fs*2(1)|p.Q770fs*24(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAATATTTTGCAGTATGCTTC 0.323 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) KCNRG 283518 broad.mit.edu 37 13 50589726 50589726 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr13:50589726C>T uc001vdu.2 + 1 337 c.97C>T c.(97-99)CGC>TGC p.R33C DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN potassium channel regulator isoform 1 33 BTB. voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity 0 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) TCGTTTGGCACGCATGTTAGA 0.408 TM9SF1 10548 broad.mit.edu 37 14 24661549 24661549 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr14:24661549C>T uc001wnb.1 - 4 1329 c.981G>A c.(979-981)ATG>ATA p.M327I IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.M562I|TM9SF1_uc001wnc.2_Missense_Mutation_p.M327I|TM9SF1_uc001wnd.2_Missense_Mutation_p.M183I NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 327 Helical; (Potential). autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) CCAGCAGTGCCATGACAATAA 0.537 SERPINA4 5267 broad.mit.edu 37 14 95033524 95033524 + Silent SNP T A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr14:95033524T>A uc001ydk.2 + 3 933 c.867T>A c.(865-867)ATT>ATA p.I289I SERPINA4_uc010avd.2_Silent_p.I326I|SERPINA4_uc001ydl.2_Silent_p.I289I NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 289 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) TGAGGGAGATTGAAGAGGTTC 0.468 PLA2G4F 255189 broad.mit.edu 37 15 42439928 42439928 + Silent SNP A C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr15:42439928A>C uc001zoz.2 - 12 1155 c.1092T>G c.(1090-1092)GGT>GGG p.G364G PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_5'UTR|PLA2G4F_uc010bcr.2_Silent_p.G115G|PLA2G4F_uc001zpa.2_Silent_p.G115G|PLA2G4F_uc010bcs.2_Silent_p.G151G NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 364 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CTCGGGTTCCACCCCCGGAAC 0.522 MAP1A 4130 broad.mit.edu 37 15 43817784 43817784 + Silent SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr15:43817784C>T uc001zrt.2 + 4 4580 c.4113C>T c.(4111-4113)GAC>GAT p.D1371D NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1371 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGCAGAAAGACAAAACTCTGG 0.453 RNF111 54778 broad.mit.edu 37 15 59323149 59323149 + Missense_Mutation SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr15:59323149T>C uc002afv.2 + 2 407 c.128T>C c.(127-129)ATT>ACT p.I43T RNF111_uc002afs.2_Missense_Mutation_p.I43T|RNF111_uc002aft.2_Missense_Mutation_p.I43T|RNF111_uc002afu.2_Missense_Mutation_p.I43T|RNF111_uc002afw.2_Missense_Mutation_p.I43T NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 43 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) CCAGAGCCCATTGGGGCAGCC 0.438 TP53 7157 broad.mit.edu 37 17 7577520 7577520 + Missense_Mutation SNP A C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr17:7577520A>C uc002gim.2 - 7 955 c.761T>G c.(760-762)ATC>AGC p.I254S TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.2_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 254 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). I -> L (in a sporadic cancer; somatic mutation).|I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|I -> M (in a sporadic cancer; 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.0?(7)|p.I254F(7)|p.I254S(5)|p.I254fs*10(5)|p.I254V(4)|p.I254T(3)|p.L252_I254delLTI(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.I254I(1)|p.?(1)|p.I254fs*7(1)|p.I254fs*91(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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) CAGTGTGATGATGGTGAGGAT 0.587 111 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) DHRS11 79154 broad.mit.edu 37 17 34951507 34951507 + Missense_Mutation SNP G A A rs148449399 TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr17:34951507G>A uc002hnd.2 + 2 468 c.254G>A c.(253-255)CGT>CAT p.R85H NM_024308 NP_077284 Q6UWP2 DHR11_HUMAN short-chain dehydrogenase/reductase precursor 85 extracellular region binding|oxidoreductase activity 0 TCAGCTATCCGTTCTCAGCAC 0.537 LAMA3 3909 broad.mit.edu 37 18 21511114 21511114 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr18:21511114C>T uc002kuq.2 + 65 8611 c.8525C>T c.(8524-8526)ACG>ATG p.T2842M LAMA3_uc002kur.2_Missense_Mutation_p.T2786M|LAMA3_uc002kus.3_Missense_Mutation_p.T1233M|LAMA3_uc002kut.3_Missense_Mutation_p.T1177M NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2842 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCCACAGACGTATATGGAT 0.428 DSC3 1825 broad.mit.edu 37 18 28604418 28604418 + Missense_Mutation SNP A T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr18:28604418A>T uc002kwj.3 - 6 827 c.672T>A c.(670-672)GAT>GAA p.D224E DSC3_uc002kwi.3_Missense_Mutation_p.D224E NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 224 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) GGAGGGGCAGATCTGCTGAAT 0.398 GNA15 2769 broad.mit.edu 37 19 3151776 3151776 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr19:3151776G>A uc002lxf.2 + 4 815 c.557G>A c.(556-558)CGC>CAC p.R186H NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 186 GTP (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CTCCGCAGCCGCATGCCCACC 0.532 ANKRD24 170961 broad.mit.edu 37 19 4207777 4207777 + Splice_Site SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr19:4207777G>A uc010dtt.1 + 10 921 c.645_splice c.e10-1 p.R215_splice ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TCCCCTGGTAGGACGGCCCTG 0.682 OREG0025162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CACNA1A 773 broad.mit.edu 37 19 13355996 13355996 + Silent SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr19:13355996C>T uc010dze.2 - 31 5189 c.4953G>A c.(4951-4953)GGG>GGA p.G1651G CACNA1A_uc010xnd.1_Silent_p.G356G|CACNA1A_uc002mwx.3_Silent_p.G356G|CACNA1A_uc010dzc.2_Silent_p.G1176G|CACNA1A_uc002mwy.3_Silent_p.G1650G|CACNA1A_uc010xne.1_Silent_p.G1179G|CACNA1A_uc002mwv.3_Silent_p.G167G NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1651 Extracellular (Potential).|IV. G -> GNP (in Ref. 1; AAB61613/AAB61612). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGAGACTTACCCCAAACTCAG 0.597 ATP4A 495 broad.mit.edu 37 19 36051416 36051416 + Silent SNP G A A rs149880813 TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr19:36051416G>A uc002oal.1 - 6 665 c.636C>T c.(634-636)GCC>GCT p.A212A ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 212 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TGCGGATGTCGGCGGGCACTC 0.622 EPS8L1 54869 broad.mit.edu 37 19 55593671 55593671 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr19:55593671C>T uc002qis.3 + 11 1123 c.1019C>T c.(1018-1020)CCC>CTC p.P340L EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.1_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_Missense_Mutation_p.P87L NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 340 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ATCGCCGACCCCTCCTCTCCG 0.662 ZFP28 140612 broad.mit.edu 37 19 57066095 57066095 + Missense_Mutation SNP T G G TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr19:57066095T>G uc002qnj.2 + 8 2012 c.1941T>G c.(1939-1941)TGT>TGG p.C647W uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 647 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) CCTATGAATGTAAGGTTTGTA 0.458 LOC401010 401010 broad.mit.edu 37 2 132201653 132201653 + Missense_Mutation SNP C G G TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr2:132201653C>G uc002tst.2 - 1 815 c.349G>C c.(349-351)GTG>CTG p.V117L NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 GCCGCCAACACCATCGTCTCT 0.602 THSD7B 80731 broad.mit.edu 37 2 137814764 137814764 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr2:137814764C>T uc002tva.1 + 2 821 c.821C>T c.(820-822)TCG>TTG p.S274L THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.S164L NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CGGCAGGTTTCGTGTACAAGA 0.363 OBFC2A 64859 broad.mit.edu 37 2 192546717 192546717 + Silent SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr2:192546717G>A uc002usx.2 + 3 756 c.276G>A c.(274-276)AGG>AGA p.R92R OBFC2A_uc002usw.2_Silent_p.R12R|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Silent_p.R12R NM_001031716 NP_001026886 Q96AH0 SOSB2_HUMAN oligonucleotide/oligosaccharide-binding fold 92 OB. double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex single-stranded DNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244) ATACTGGAAGGGGTGGTGAAC 0.289 RPE 6120 broad.mit.edu 37 2 210881273 210881273 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr2:210881273G>A uc002vdn.2 + 4 390 c.385G>A c.(385-387)GCA>ACA p.A129T RPE_uc002vdm.2_Missense_Mutation_p.A129T|RPE_uc002vdo.2_Missense_Mutation_p.A79T|RPE_uc010zjf.1_Missense_Mutation_p.A129T|RPE_uc002vdp.2_Missense_Mutation_p.A76T|RPE_uc010fup.2_Missense_Mutation_p.A61T|RPE_uc002vdq.2_Missense_Mutation_p.A79T|RPE_uc002vdr.2_Intron NM_199229 NP_954699 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase isoform 1 129 pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity 0 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) TGAGTATTTGGCACCATGGGC 0.398 NSFL1C 55968 broad.mit.edu 37 20 1424444 1424444 + Silent SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr20:1424444G>A uc002wfc.2 - 9 2011 c.1063C>T c.(1063-1065)CTG>TTG p.L355L NSFL1C_uc002wfd.2_Silent_p.L244L|NSFL1C_uc002wfe.2_Silent_p.L324L|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.L121L NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 355 UBX. chromosome|Golgi stack|nucleus lipid binding|protein binding 0 GCTTCCTTCAGGGTCTGGCTC 0.582 NISCH 11188 broad.mit.edu 37 3 52521429 52521440 + In_Frame_Del DEL GAGGAGGAGGAA - - TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr3:52521429_52521440delGAGGAGGAGGAA uc011beg.1 + 17 1993_2004 c.1921_1932delGAGGAGGAGGAA c.(1921-1932)GAGGAGGAGGAAdel p.EEEE641del NISCH_uc003ded.3_In_Frame_Del_p.EEEE641del|NISCH_uc003dee.3_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_RNA NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 641_644 Necessary for homooligomerization and targeting to endosomes.|Potential.|Glu-rich.|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ggaggaggatgaggaggaggaagaagaggagg 0.406 MAN2B2 23324 broad.mit.edu 37 4 6598876 6598876 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr4:6598876G>A uc003gjf.1 + 8 1130 c.1094G>A c.(1093-1095)CGC>CAC p.R365H MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 365 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 TACACGTCCCGCAGCTCACTG 0.632 KIT 3815 broad.mit.edu 37 4 55561826 55561826 + Missense_Mutation SNP T A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr4:55561826T>A uc010igr.2 + 2 303 c.216T>A c.(214-216)GAT>GAA p.D72E KIT_uc010igs.2_Missense_Mutation_p.D72E NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 72 Extracellular (Potential).|Ig-like C2-type 1. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.571_572>GE(1) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGATCCTGGATGAAACGAATG 0.463 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors BANK1 55024 broad.mit.edu 37 4 102816534 102816534 + Missense_Mutation SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr4:102816534T>C uc003hvy.3 + 6 1250 c.976T>C c.(976-978)TCT>CCT p.S326P BANK1_uc003hvx.3_Missense_Mutation_p.S311P|BANK1_uc010ill.2_Missense_Mutation_p.S193P|BANK1_uc003hvz.3_Missense_Mutation_p.S296P NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 326 DBB. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TGAGTTCCAGTCTCTTCAAAC 0.303 OTUD4 54726 broad.mit.edu 37 4 146059760 146059760 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr4:146059760G>A uc003ika.3 - 21 2110 c.1972C>T c.(1972-1974)CCT>TCT p.P658S OTUD4_uc003ijz.3_Missense_Mutation_p.P657S NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 722 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) TGGTGCAGAGGGTACAGGTAA 0.488 DNAH5 1767 broad.mit.edu 37 5 13841119 13841119 + Missense_Mutation SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr5:13841119T>C uc003jfd.2 - 34 5647 c.5605A>G c.(5605-5607)ACA>GCA p.T1869A NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1869 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCTATCAATGTATTGAGTAGC 0.413 Kartagener_syndrome PRDM9 56979 broad.mit.edu 37 5 23522425 23522425 + Missense_Mutation SNP A G G TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr5:23522425A>G uc003jgo.2 + 7 703 c.521A>G c.(520-522)AAG>AGG p.K174R NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 174 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CTCAGGAAGAAGGAGACTGAA 0.428 HNSCC(3;0.000094) PIK3R1 5295 broad.mit.edu 37 5 67591121 67591121 + Nonsense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr5:67591121C>T uc003jva.2 + 13 2274 c.1714C>T c.(1714-1716)CAG>TAG p.Q572* PIK3R1_uc003jvb.2_Nonsense_Mutation_p.Q572*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.Q251*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.Q242* NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 572 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.L570_D578del(1)|p.L570_Q572del(1)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AGACCTTATCCAGCTGAGAAA 0.373 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) FTMT 94033 broad.mit.edu 37 5 121187841 121187841 + Silent SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr5:121187841C>T uc003kss.2 + 1 192 c.183C>T c.(181-183)CCC>CCT p.P61P NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 61 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CTACCGGGCCCGCCGCCGGCC 0.736 C5orf25 375484 broad.mit.edu 37 5 175717776 175717776 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr5:175717776C>T uc003mds.3 + 4 1599 c.1192C>T c.(1192-1194)CCA>TCA p.P398S C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 398 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) CATGGAAACCCCAGCCAGAAA 0.517 RNF130 55819 broad.mit.edu 37 5 179467635 179467635 + Missense_Mutation SNP A T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr5:179467635A>T uc003mll.1 - 2 667 c.260T>A c.(259-261)CTG>CAG p.L87Q RNF130_uc003mlm.1_Missense_Mutation_p.L87Q NM_018434 NP_060904 Q86XS8 GOLI_HUMAN ring finger protein 130 precursor 87 Extracellular (Potential). apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding lung(2)|ovary(1) 3 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCACAGCCCAGATGATCAGC 0.388 PACRG 135138 broad.mit.edu 37 6 163235309 163235309 + Nonsense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr6:163235309G>A uc003qua.2 + 3 511 c.287G>A c.(286-288)TGG>TAG p.W96* PACRG_uc003qub.2_Nonsense_Mutation_p.W96*|PACRG_uc003quc.2_Nonsense_Mutation_p.W96* NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 96 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) AAAATCGCCTGGAAGGTAAGT 0.488 IL6 3569 broad.mit.edu 37 7 22769182 22769182 + Missense_Mutation SNP A T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:22769182A>T uc011jyn.1 + 5 833 c.374A>T c.(373-375)TAC>TTC p.Y125F uc010kun.1_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc003svj.3_Missense_Mutation_p.Y125F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F NM_000600 NP_000591 P05231 IL6_HUMAN interleukin 6 precursor 125 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding 0 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) TTTGAGGTATACCTAGAGTAC 0.443 NOD1 10392 broad.mit.edu 37 7 30496383 30496383 + Missense_Mutation SNP G A A TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:30496383G>A uc003tav.2 - 4 678 c.155C>T c.(154-156)GCC>GTC p.A52V NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 52 CARD. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CGCATCTTCGGCCGAGAAGTA 0.552 ABCA13 154664 broad.mit.edu 37 7 48318026 48318026 + Missense_Mutation SNP C G G TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:48318026C>G uc003toq.2 + 18 7260 c.7235C>G c.(7234-7236)GCT>GGT p.A2412G ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2412 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTTGGGTCAGCTCTTCACCTT 0.383 RABGEF1 27342 broad.mit.edu 37 7 66240358 66240358 + Silent SNP T C C TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:66240358T>C uc011kee.1 + 3 530 c.366T>C c.(364-366)TCT>TCC p.S122S RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Silent_p.S108S|RABGEF1_uc003tvh.2_Silent_p.S108S|RABGEF1_uc003tvi.2_5'UTR NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 286 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 TCAGTGCATCTTCCAGGGTCG 0.463 SEMA3C 10512 broad.mit.edu 37 7 80430136 80430136 + Missense_Mutation SNP A T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:80430136A>T uc003uhj.2 - 10 1485 c.923T>A c.(922-924)GTG>GAG p.V308E SEMA3C_uc011kgw.1_Missense_Mutation_p.V326E|SEMA3C_uc011kgx.1_Missense_Mutation_p.V160E NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 308 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 CAGCAGAAACACATCCTCTAT 0.279 CACNA2D1 781 broad.mit.edu 37 7 81591256 81591256 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:81591256C>T uc003uhr.1 - 36 3176 c.2920G>A c.(2920-2922)GAC>AAC p.D974N CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 986 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GATTTACTGTCGTTATCGAAG 0.418 TES 26136 broad.mit.edu 37 7 115889244 115889244 + Missense_Mutation SNP C T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr7:115889244C>T uc003vho.2 + 3 465 c.284C>T c.(283-285)ACG>ATG p.T95M TES_uc011kmx.1_Missense_Mutation_p.T95M|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.T86M|TES_uc003vhp.2_Missense_Mutation_p.T86M NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 95 PET. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) ATGATATTGACGAATCCAGTT 0.393 WDYHV1 55093 broad.mit.edu 37 8 124440173 124440173 + Frame_Shift_Del DEL T - - TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chr8:124440173delT uc003yqn.1 + 2 218 c.93delT c.(91-93)AATfs p.N31fs WDYHV1_uc011lij.1_5'UTR|WDYHV1_uc003yqo.1_5'Flank NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 31 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 GTGAAGAAAATATTTGGAAGC 0.289 SLC6A14 11254 broad.mit.edu 37 X 115573956 115573956 + Nonsense_Mutation SNP G T T TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chrX:115573956G>T uc004eqi.2 + 4 552 c.448G>T c.(448-450)GAA>TAA p.E150* SLC6A14_uc011mtm.1_RNA NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 150 Extracellular (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) TTTTCAAAGTGAACTACCATG 0.323 Unknown 0 broad.mit.edu 37 X 155254735 155254735 + Missense_Mutation SNP C G G TCGA-32-2634-01A-01D-1495-08 TCGA-32-2634-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 52b2a114-4f8c-4e02-af9d-24c4a05d4ca0 9157adef-f3b4-43a8-bf98-ee22bfc4631f g.chrX:155254735C>G uc004fnx.3 + 8 1085 c.631C>G c.(631-633)CTC>GTC p.L211V NM_182905 NP_878908 WAS protein family homolog 1 GATGTCGGATCTCTTCAACAA 0.587