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 FUCA1 2517 broad.mit.edu 37 1 24186383 24186383 + Missense_Mutation SNP C G G TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:24186383C>G uc001bie.2 - 4 718 c.673G>C c.(673-675)GAT>CAT p.D225H FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 225 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) CAGATCAGATCAGGTTTATAG 0.373 PODN 127435 broad.mit.edu 37 1 53544261 53544261 + Missense_Mutation SNP G A A rs138913141 TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:53544261G>A uc001cuv.2 + 8 1230 c.1223G>A c.(1222-1224)CGG>CAG p.R408Q PODN_uc001cuw.2_Missense_Mutation_p.R389Q|PODN_uc010onr.1_Missense_Mutation_p.R389Q|PODN_uc010ons.1_Missense_Mutation_p.R266Q NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 360 LRR 12. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GGCCTCAAGCGGTTGCACACG 0.647 INADL 10207 broad.mit.edu 37 1 62299351 62299351 + Missense_Mutation SNP C G G rs112258254 byFrequency TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:62299351C>G uc001dab.2 + 17 2120 c.2006C>G c.(2005-2007)ACT>AGT p.T669S INADL_uc009waf.1_Missense_Mutation_p.T669S|INADL_uc001daa.2_Missense_Mutation_p.T669S|INADL_uc001dad.3_Missense_Mutation_p.T366S|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 669 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GATGTCAATACTGAAGAAGAT 0.363 TTC24 164118 broad.mit.edu 37 1 156554756 156554756 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:156554756G>A uc009wsc.1 + 5 639 c.499G>A c.(499-501)GTC>ATC p.V167I NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 447 binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CACAGCAGGTGTCCAGCACAG 0.642 ETV3L 440695 broad.mit.edu 37 1 157068529 157068529 + Missense_Mutation SNP G T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:157068529G>T uc001fqq.1 - 3 740 c.455C>A c.(454-456)CCA>CAA p.P152Q NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) CACCAGCGCTGGCCGACACAG 0.652 PLEKHA6 22874 broad.mit.edu 37 1 204214763 204214763 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:204214763G>A uc001hau.2 - 14 2329 c.2012C>T c.(2011-2013)ACG>ATG p.T671M PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 671 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCGGTGTCCGTGCCCCGGGA 0.602 OR2T12 127064 broad.mit.edu 37 1 248458330 248458330 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr1:248458330C>T uc010pzj.1 - 1 551 c.551G>A c.(550-552)CGT>CAT p.R184H NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ACAAGCCAAACGCACCAACAC 0.552 ARHGAP21 57584 broad.mit.edu 37 10 24873489 24873489 + Missense_Mutation SNP A C C TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr10:24873489A>C uc001isb.2 - 26 6216 c.5729T>G c.(5728-5730)CTT>CGT p.L1910R ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1909 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TATGGAAAGAAGGGGCCTGTT 0.483 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr10:51093329C>T uc001jif.2 - 8 2011 c.1750G>A c.(1750-1752)GCA>ACA p.A584T PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T NM_003631 NP_003622 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity ovary(2) 2 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318 BTAF1 9044 broad.mit.edu 37 10 93786503 93786503 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr10:93786503G>A uc001khr.2 + 36 5328 c.5230G>A c.(5230-5232)GGG>AGG p.G1744R NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1744 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.G1744G(1) ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) CCATCGCATTGGGCAGGTAAA 0.383 KNDC1 85442 broad.mit.edu 37 10 135020727 135020727 + Missense_Mutation SNP C A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr10:135020727C>A uc001llz.1 + 20 3667 c.3666C>A c.(3664-3666)GAC>GAA p.D1222E NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1222 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) ACACGCTGGACTTCAGCCCCC 0.687 LRP4 4038 broad.mit.edu 37 11 46894746 46894746 + Silent SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr11:46894746G>A uc001ndn.3 - 30 4634 c.4488C>T c.(4486-4488)ATC>ATT p.I1496I uc001ndl.2_RNA NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1496 Extracellular (Potential).|LDL-receptor class B 18. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TTGCCCGTTCGATCTTGGCAA 0.552 OR4A15 81328 broad.mit.edu 37 11 55135883 55135883 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr11:55135883C>T uc010rif.1 + 1 524 c.524C>T c.(523-525)GCG>GTG p.A175V NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 175 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATGCTGTTGGCGGCCTGGATT 0.443 TECTA 7007 broad.mit.edu 37 11 121000704 121000704 + Missense_Mutation SNP C T T rs139132568 TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr11:121000704C>T uc010rzo.1 + 9 2725 c.2725C>T c.(2725-2727)CGC>TGC p.R909C NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 909 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTATCGAAGCCGCTCCAGGTG 0.562 DDX12 440081 broad.mit.edu 37 12 9574042 9574042 + Missense_Mutation SNP C A A rs7298124 by1000genomes TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr12:9574042C>A uc010sgs.1 - 20 2189 c.1994G>T c.(1993-1995)AGC>ATC p.S665I DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 GGAGACCCCGCTGCAGATGAC 0.592 PIK3C2G 5288 broad.mit.edu 37 12 18699324 18699324 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr12:18699324G>A uc001rdt.2 + 25 3541 c.3425G>A c.(3424-3426)CGT>CAT p.R1142H PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.R1183H|PIK3C2G_uc010sic.1_Missense_Mutation_p.R961H NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1142 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) AATAATCTTCGTCCACAAGAC 0.408 KRT79 338785 broad.mit.edu 37 12 53218087 53218087 + Missense_Mutation SNP G T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr12:53218087G>T uc001sbb.2 - 5 948 c.915C>A c.(913-915)AAC>AAA p.N305K KRT79_uc001sba.2_Missense_Mutation_p.N76K NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 305 Rod.|Linker 12. keratin filament structural molecule activity p.N305K(1) ovary(2)|skin(2) 4 GGTTGCGGTTGTTGTCCATGG 0.597 SLC16A7 9194 broad.mit.edu 37 12 60169207 60169207 + Silent SNP T G G TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr12:60169207T>G uc001sqs.2 + 5 1430 c.1131T>G c.(1129-1131)CTT>CTG p.L377L SLC16A7_uc001sqt.2_Silent_p.L377L|SLC16A7_uc001squ.2_Silent_p.L377L|SLC16A7_uc009zqi.2_Silent_p.L278L|SLC16A7_uc010ssi.1_Silent_p.L278L NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 377 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) CCGTCGGACTTGTCACAATTG 0.438 KCTD10 83892 broad.mit.edu 37 12 109889455 109889455 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr12:109889455C>T uc001toi.1 - 7 975 c.887G>A c.(886-888)CGC>CAC p.R296H KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.R270H|KCTD10_uc001toj.1_Missense_Mutation_p.R305H|KCTD10_uc001tok.1_Missense_Mutation_p.R115H NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain 296 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 CCTCCGCACGCGCTCGATCCG 0.716 OR4K5 79317 broad.mit.edu 37 14 20389343 20389343 + Missense_Mutation SNP A T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr14:20389343A>T uc010tkw.1 + 1 578 c.578A>T c.(577-579)TAC>TTC p.Y193F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGACTCTTACATCATTGAA 0.393 OR4N3P 390539 broad.mit.edu 37 15 22414262 22414262 + Silent SNP C T T rs1429510 by1000genomes TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr15:22414262C>T uc001yuf.2 + 1 561 c.561C>T c.(559-561)GCC>GCT p.A187A NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CTTTCCCAGCCGACAAGGTGG 0.453 GABRB3 2562 broad.mit.edu 37 15 26825472 26825472 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr15:26825472C>T uc001zaz.2 - 6 818 c.676G>A c.(676-678)GCC>ACC p.A226T GABRB3_uc010uae.1_Missense_Mutation_p.A141T|GABRB3_uc001zba.2_Missense_Mutation_p.A226T|GABRB3_uc001zbb.2_Missense_Mutation_p.A282T NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 226 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCACCTGTGGCGAAGACAACA 0.572 GOLGA6C 653641 broad.mit.edu 37 15 75557692 75557692 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr15:75557692G>A uc002azs.1 + 9 727 c.650G>A c.(649-651)CGG>CAG p.R217Q uc002azt.1_5'Flank NM_001145224 NP_001138696 A6NDK9 GOG6C_HUMAN golgi autoantigen, golgin subfamily a, 6D 229 Potential. ovary(1) 1 CAGCTAGAGCGGGACGAATAT 0.542 HAGH 3029 broad.mit.edu 37 16 1867224 1867224 + Missense_Mutation SNP G A A rs150713216 TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr16:1867224G>A uc002cna.2 - 6 997 c.590C>T c.(589-591)GCG>GTG p.A197V HAGH_uc002cmz.2_Missense_Mutation_p.A149V|HAGH_uc010uvp.1_Missense_Mutation_p.R161W|HAGH_uc002cnb.1_Missense_Mutation_p.A149V NM_005326 NP_005317 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase isoform 1 197 glutathione biosynthetic process cytoplasm|mitochondrial matrix|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding ovary(1) 1 Hepatocellular(780;0.00335) Glutathione(DB00143) CATCTCATCCGCAGTCCCTTC 0.637 PDILT 204474 broad.mit.edu 37 16 20376785 20376785 + Silent SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr16:20376785G>A uc002dhc.1 - 9 1417 c.1194C>T c.(1192-1194)AAC>AAT p.N398N NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 398 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 AGACGACTACGTTGAAGTTCT 0.448 Unknown 0 broad.mit.edu 37 16 33784791 33784791 + Silent SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr16:33784791C>T uc010vgb.1 + 2 200 c.180C>T c.(178-180)GGC>GGT p.G60G RecName: Full=Transporter; ACCTCCTGGGCTGCCTCCTCA 0.632 IL17C 27189 broad.mit.edu 37 16 88705562 88705562 + Silent SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr16:88705562G>A uc002fla.2 + 2 229 c.180G>A c.(178-180)CAG>CAA p.Q60Q NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN interleukin 17C precursor 60 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) AGTGGGGGCAGGCTTTGCCTG 0.697 RAPGEFL1 51195 broad.mit.edu 37 17 38340589 38340589 + Silent SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr17:38340589C>T uc010cwu.1 + 3 595 c.105C>T c.(103-105)GGC>GGT p.G35G NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 241 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGGGGGCCGGCCACATCATCA 0.587 DHX40 79665 broad.mit.edu 37 17 57665340 57665340 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr17:57665340C>T uc002ixn.1 + 12 1655 c.1508C>T c.(1507-1509)GCT>GTT p.A503V DHX40_uc010woe.1_Missense_Mutation_p.A426V|DHX40_uc010wof.1_Missense_Mutation_p.A18V NM_024612 NP_078888 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 503 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ATAAAAGCTGCTTCCCTGGAT 0.398 SCN4A 6329 broad.mit.edu 37 17 62019282 62019282 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr17:62019282G>A uc002jds.1 - 24 4437 c.4360C>T c.(4360-4362)CGG>TGG p.R1454W NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1454 Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CGCCCAATCCGCGCCAGGCGG 0.642 LAMA1 284217 broad.mit.edu 37 18 6982557 6982557 + Silent SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr18:6982557C>T uc002knm.2 - 41 5923 c.5829G>A c.(5827-5829)GCG>GCA p.A1943A LAMA1_uc010wzj.1_Silent_p.A1419A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1943 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGCACGGCCGCTTTCCCGT 0.547 ATP8B3 148229 broad.mit.edu 37 19 1805392 1805392 + Missense_Mutation SNP C A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr19:1805392C>A uc002ltw.2 - 10 1119 c.885G>T c.(883-885)AAG>AAT p.K295N ATP8B3_uc002ltv.2_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 295 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCCATCTTCTTTATAGTGG 0.478 DOT1L 84444 broad.mit.edu 37 19 2227030 2227030 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr19:2227030G>A uc002lvb.3 + 27 4546 c.4510G>A c.(4510-4512)GCC>ACC p.A1504T DOT1L_uc002lvc.1_Missense_Mutation_p.A798T NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 1504 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCCGGCCGCCGCAGGCCT 0.697 OR7G3 390883 broad.mit.edu 37 19 9237058 9237058 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr19:9237058G>A uc010xkl.1 - 1 569 c.569C>T c.(568-570)TCT>TTT p.S190F NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAGGACATCAGAACAGGCGAG 0.463 DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T - - TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr19:10262139delT uc002mng.2 - 23 2332 c.2152delA c.(2152-2154)ATGfs p.M718fs DNMT1_uc010xlc.1_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.2_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.1_Frame_Shift_Del_p.M718fs NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 GPR77 27202 broad.mit.edu 37 19 47844107 47844107 + Silent SNP G A A rs115216760 byFrequency TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr19:47844107G>A uc010ela.1 + 2 269 c.51G>A c.(49-51)TCG>TCA p.S17S GPR77_uc002pgk.1_Silent_p.S17S NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 17 Extracellular (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) GCGACCTCTCGGACCGCCCTG 0.627 PTPN18 26469 broad.mit.edu 37 2 131128796 131128796 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr2:131128796G>A uc002trc.2 + 12 1050 c.949G>A c.(949-951)GCC>ACC p.A317T PTPN18_uc002trd.2_Missense_Mutation_p.A296T|PTPN18_uc002trb.2_Missense_Mutation_p.A210T|PTPN18_uc002tre.2_5'Flank NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 317 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) CTACGACGATGCCCTCTTCCT 0.622 LRP1B 53353 broad.mit.edu 37 2 141812781 141812781 + Missense_Mutation SNP A T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr2:141812781A>T uc002tvj.1 - 10 2428 c.1456T>A c.(1456-1458)TGT>AGT p.C486S LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 486 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTGTGAACAGCCCCCTGGC 0.438 TSP Lung(27;0.18) TTN 7273 broad.mit.edu 37 2 179606204 179606204 + Missense_Mutation SNP G T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr2:179606204G>T uc010zfh.1 - 46 11467 c.11243C>A c.(11242-11244)ACT>AAT p.T3748N TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3681N|TTN_uc010zfj.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3721 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) TTCTGTTTCAGTGTCTTTGTG 0.428 FN1 2335 broad.mit.edu 37 2 216232682 216232682 + Missense_Mutation SNP C G G TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr2:216232682C>G uc002vfa.2 - 42 7188 c.6922G>C c.(6922-6924)GTT>CTT p.V2308L FN1_uc002vfb.2_Missense_Mutation_p.V2096L|FN1_uc002vfc.2_Missense_Mutation_p.V2071L|FN1_uc002vfd.2_Missense_Mutation_p.V2252L|FN1_uc002vfe.2_Missense_Mutation_p.V2186L|FN1_uc002vff.2_Missense_Mutation_p.V2161L|FN1_uc002vfg.2_Missense_Mutation_p.V2127L|FN1_uc002vfh.2_Missense_Mutation_p.V2007L|FN1_uc002vfi.2_Missense_Mutation_p.V2277L|FN1_uc002vfj.2_Missense_Mutation_p.V2098L|FN1_uc002vez.2_Missense_Mutation_p.V471L|FN1_uc010zjp.1_Missense_Mutation_p.V845L|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 2217 Fibronectin type-I 10.|Fibrin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCATCTCCAACGGCATAATGG 0.438 PAX3 5077 broad.mit.edu 37 2 223066852 223066852 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr2:223066852C>T uc010fwo.2 - 8 1597 c.1231G>A c.(1231-1233)GCG>ACG p.A411T PAX3_uc002vmt.1_Missense_Mutation_p.A411T|PAX3_uc002vmy.1_Missense_Mutation_p.A410T|PAX3_uc002vmv.1_Missense_Mutation_p.A411T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 411 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGAGAGCGCGTAATCAGTC 0.547 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome KLHL30 377007 broad.mit.edu 37 2 239049594 239049594 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr2:239049594G>A uc002vxr.1 + 1 178 c.145G>A c.(145-147)GCC>ACC p.A49T NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN kelch-like 30 67 BTB. 0 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGGTGACTTCGCCGAGAGCTT 0.677 GFRA4 64096 broad.mit.edu 37 20 3640880 3640880 + Silent SNP G T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr20:3640880G>T uc002wio.2 - 4 744 c.744C>A c.(742-744)GCC>GCA p.A248A GFRA4_uc002win.2_Silent_p.A218A NM_145762 NP_665705 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 isoform b 248 anchored to membrane|extracellular region|plasma membrane receptor activity 0 CGCTGGCAAAGGCCTGAATGG 0.647 ERG 2078 broad.mit.edu 37 21 39755623 39755623 + Missense_Mutation SNP A G G TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr21:39755623A>G uc010gnw.2 - 12 1458 c.1163T>C c.(1162-1164)GTC>GCC p.V388A ERG_uc002yxa.2_Missense_Mutation_p.V381A|ERG_uc011aek.1_Missense_Mutation_p.V289A|ERG_uc010gnv.2_Missense_Mutation_p.V265A|ERG_uc010gnx.2_Missense_Mutation_p.V364A|ERG_uc011ael.1_Missense_Mutation_p.V388A|ERG_uc002yxb.2_Missense_Mutation_p.V364A NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 388 ETS. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CTTCCCATGGACCTTGGTCAT 0.592 PRDM15 63977 broad.mit.edu 37 21 43230571 43230571 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr21:43230571C>T uc002yzq.1 - 28 3800 c.3689G>A c.(3688-3690)TGC>TAC p.C1230Y PRDM15_uc002yzo.2_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.2_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1230 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTGGTCCCGCACAGCTGGCA 0.652 CELSR1 9620 broad.mit.edu 37 22 46931595 46931595 + Silent SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr22:46931595G>A uc003bhw.1 - 1 1473 c.1473C>T c.(1471-1473)AAC>AAT p.N491N NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 491 Extracellular (Potential).|Cadherin 3. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAATGGCCGCGTTCTGGCCCT 0.632 ANKRD28 23243 broad.mit.edu 37 3 15778600 15778600 + Silent SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr3:15778600G>A uc003caj.1 - 5 545 c.402C>T c.(400-402)AAC>AAT p.N134N ANKRD28_uc003cai.1_Translation_Start_Site|ANKRD28_uc011avz.1_Translation_Start_Site|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 134 ANK 3. nucleoplasm protein binding breast(1) 1 GATCAGATACGTTTACATTAC 0.428 BCL6 604 broad.mit.edu 37 3 187443315 187443315 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr3:187443315C>T uc003frp.3 - 8 2268 c.1811G>A c.(1810-1812)TGC>TAC p.C604Y BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.1_Missense_Mutation_p.C604Y NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 604 C2H2-type 4. negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GCAGGTTTCGCATTTGTAGGG 0.328 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL TAPT1 202018 broad.mit.edu 37 4 16204132 16204132 + Silent SNP A G G TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr4:16204132A>G uc010ied.1 - 3 483 c.402T>C c.(400-402)GTT>GTC p.V134V TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.3_Intron NM_153365 NP_699196 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 134 integral to membrane growth hormone-releasing hormone receptor activity 0 GTGCCAGGAAAACTCTTAAAG 0.353 EGFLAM 133584 broad.mit.edu 37 5 38463973 38463974 + Frame_Shift_Ins INS - T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr5:38463973_38463974insT uc003jlc.1 + 23 3263_3264 c.2939_2940insT c.(2938-2940)TATfs p.Y980fs EGFLAM_uc003jlb.1_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.1_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.1_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.1_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.1_Frame_Shift_Ins_p.Y62fs NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 980 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) AACAGGCAATATATGAGAGGGC 0.520 BRD8 10902 broad.mit.edu 37 5 137476545 137476545 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr5:137476545C>T uc003lcf.1 - 26 3519 c.3464G>A c.(3463-3465)AGA>AAA p.R1155K BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 1155 Bromo 2. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGAGAGATTTCTCTTCAGGCT 0.428 WDR46 9277 broad.mit.edu 37 6 33255194 33255194 + Missense_Mutation SNP G A A rs141256696 byFrequency TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr6:33255194G>A uc003ods.2 - 8 861 c.817C>T c.(817-819)CGC>TGC p.R273C WDR46_uc011dra.1_Missense_Mutation_p.R219C|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 273 0 TCACAGCGGCGGATACAGTGG 0.572 MACC1 346389 broad.mit.edu 37 7 20199676 20199676 + Missense_Mutation SNP A G G TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr7:20199676A>G uc003sus.3 - 5 617 c.308T>C c.(307-309)TTC>TCC p.F103S MACC1_uc010kug.2_Missense_Mutation_p.F103S NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 103 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 TTCTCTACAGAAAAGAAAAGG 0.348 ABCB5 340273 broad.mit.edu 37 7 20767947 20767947 + Silent SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr7:20767947G>A uc003suw.3 + 14 1947 c.1401G>A c.(1399-1401)TCG>TCA p.S467S ABCB5_uc010kuh.2_Silent_p.S912S|ABCB5_uc003sux.1_Silent_p.S90S NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 467 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GAAATACCTCGAAGAAAGCAC 0.353 OR6V1 346517 broad.mit.edu 37 7 142750291 142750291 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr7:142750291C>T uc011ksv.1 + 1 854 c.854C>T c.(853-855)CCC>CTC p.P285L NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) TTTCTCAATCCCTTTATCCTT 0.507 DOCK8 81704 broad.mit.edu 37 9 426982 426982 + Splice_Site SNP G T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr9:426982G>T uc003zgf.2 + 34 4450 c.4338_splice c.e34+1 p.Q1446_splice DOCK8_uc010mgu.2_Splice_Site_p.Q748_splice|DOCK8_uc010mgv.2_Splice_Site_p.Q1346_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CATTATCCAGGTGAGGAAAAC 0.383 RGS3 5998 broad.mit.edu 37 9 116259676 116259677 + Frame_Shift_Ins INS - GCTGAGAG GCTGAGAG TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr9:116259676_116259677insGCTGAGAG uc004bhq.2 + 10 1042_1043 c.833_834insGCTGAGAG c.(832-834)CCGfs p.P278fs RGS3_uc004bhr.2_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.2_Frame_Shift_Ins_p.P168fs NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 278 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CGACTGCGGCCGCTGAGAGGTA 0.619 VAV2 7410 broad.mit.edu 37 9 136656960 136656960 + Missense_Mutation SNP C T T TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chr9:136656960C>T uc004ces.2 - 13 1179 c.1133G>A c.(1132-1134)CGG>CAG p.R378Q VAV2_uc004cer.2_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 378 angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CTCCTTGTCCCGTTTAACTTC 0.488 FAM47C 442444 broad.mit.edu 37 X 37028050 37028050 + Missense_Mutation SNP C T T rs145081405 TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chrX:37028050C>T uc004ddl.1 + 1 1581 c.1567C>T c.(1567-1569)CGC>TGC p.R523C NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 523 ovary(3) 3 GTCCCATCTCCGCCCAGAGCC 0.612 PCDH11X 27328 broad.mit.edu 37 X 91090711 91090711 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chrX:91090711G>A uc004efk.1 + 1 1053 c.208G>A c.(208-210)GGA>AGA p.G70R PCDH11X_uc004efl.1_Missense_Mutation_p.G70R|PCDH11X_uc004efo.1_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.1_Missense_Mutation_p.G70R|PCDH11X_uc004efm.1_Missense_Mutation_p.G70R|PCDH11X_uc004efn.1_Missense_Mutation_p.G70R|PCDH11X_uc004efh.1_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 70 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GTACAAGACCGGAGATGTGCC 0.458 VSIG1 340547 broad.mit.edu 37 X 107301373 107301373 + Missense_Mutation SNP G A A TCGA-32-4719-01A-01D-1353-08 TCGA-32-4719-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 48d702ef-c24f-4784-a17b-64858c046d56 9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3 g.chrX:107301373G>A uc004eno.2 + 2 316 c.155G>A c.(154-156)CGA>CAA p.R52Q VSIG1_uc011msk.1_Missense_Mutation_p.R52Q NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 52 Extracellular (Potential).|Ig-like V-type 1. integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 GTGGCCTCCCGAGAACAGCTT 0.468