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 CYP4X1 260293 broad.mit.edu 37 1 47498961 47498961 + Missense_Mutation SNP G A A rs116257861 by1000genomes TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:47498961G>A uc001cqt.2 + 4 663 c.413G>A c.(412-414)CGC>CAC p.R138H CYP4X1_uc001cqr.2_Missense_Mutation_p.R137H|CYP4X1_uc001cqs.2_Missense_Mutation_p.R73H NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 138 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 CAGCATCGTCGCCTACTAACT 0.428 CREB3L4 148327 broad.mit.edu 37 1 153941905 153941905 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:153941905G>A uc001fdn.3 + 4 783 c.517G>A c.(517-519)GTA>ATA p.V173I SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Missense_Mutation_p.V26I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V153I|CREB3L4_uc001fdm.1_Missense_Mutation_p.V173I|CREB3L4_uc001fdp.1_Missense_Mutation_p.V153I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.V173I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V153I NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 173 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGCAGGCACCGTAGCCCCAGT 0.532 TOR1AIP1 26092 broad.mit.edu 37 1 179886766 179886766 + Nonsense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:179886766C>T uc001gnq.2 + 10 1362 c.1144C>T c.(1144-1146)CAA>TAA p.Q382* NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN lamina-associated polypeptide 1B 382 Lumenal (Potential).|Potential. integral to membrane|nuclear inner membrane breast(1)|central_nervous_system(1) 2 GTACCAAGGTCAAGATGAGAA 0.443 LAMC1 3915 broad.mit.edu 37 1 183087214 183087214 + Silent SNP T C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:183087214T>C uc001gpy.3 + 11 2180 c.1923T>C c.(1921-1923)CCT>CCC p.P641P NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 641 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTTACCCCTTTTGAATTTC 0.418 PPFIA4 8497 broad.mit.edu 37 1 203014509 203014509 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:203014509G>A uc009xaj.2 + 11 1121 c.1121G>A c.(1120-1122)CGG>CAG p.R374Q PPFIA4_uc010pqf.1_5'UTR O75335 LIPA4_HUMAN SubName: Full=Liprin alpha4; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GATACGGGCCGGGTAGAGGAG 0.602 ELK4 2005 broad.mit.edu 37 1 205589407 205589407 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:205589407G>A uc001hcy.1 - 3 2017 c.767C>T c.(766-768)TCG>TTG p.S256L ELK4_uc001hcz.2_Missense_Mutation_p.S256L NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 256 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GGGTATGGACGAAATGGGTGG 0.522 T SLC45A3 prostate MRPL55 128308 broad.mit.edu 37 1 228294495 228294495 + Missense_Mutation SNP C T T rs145809265 TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:228294495C>T uc001hry.2 - 3 1097 c.353G>A c.(352-354)CGC>CAC p.R118H MRPL55_uc001hrz.3_Missense_Mutation_p.R154H|MRPL55_uc009xex.2_Missense_Mutation_p.R118H|MRPL55_uc001hsa.3_Missense_Mutation_p.R118H|MRPL55_uc001hsb.3_Missense_Mutation_p.R118H|MRPL55_uc001hsc.3_Missense_Mutation_p.R118H|MRPL55_uc001hsd.3_Missense_Mutation_p.R118H|MRPL55_uc001hse.3_Missense_Mutation_p.R118H|MRPL55_uc001hsf.3_Missense_Mutation_p.R118H|MRPL55_uc001hsg.3_Missense_Mutation_p.R118H NM_181465 NP_852130 Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 isoform a 118 translation mitochondrial large ribosomal subunit structural constituent of ribosome central_nervous_system(1) 1 Prostate(94;0.0405) CTGTCGGTAGCGCTCCACATG 0.592 RYR2 6262 broad.mit.edu 37 1 237632437 237632437 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:237632437G>A uc001hyl.1 + 17 1778 c.1658G>A c.(1657-1659)GGC>GAC p.G553D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 553 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATTTTCTGGCTCCCTCGAC 0.373 OR2T11 127077 broad.mit.edu 37 1 248789661 248789661 + Missense_Mutation SNP C T T rs139227153 byFrequency TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr1:248789661C>T uc001ier.1 - 1 769 c.769G>A c.(769-771)GTG>ATG p.V257M NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 257 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGGGCAGCACGTATGTGTAG 0.532 NEBL 10529 broad.mit.edu 37 10 21185902 21185902 + Silent SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr10:21185902C>T uc001iqi.2 - 2 535 c.138G>A c.(136-138)ACG>ACA p.T46T NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 46 Nebulin 1. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TAATGAGTTCCGTGCATTTTC 0.294 OR52E2 119678 broad.mit.edu 37 11 5080175 5080175 + Missense_Mutation SNP C T T rs141087990 TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr11:5080175C>T uc010qyw.1 - 1 683 c.683G>A c.(682-684)CGT>CAT p.R228H NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTAGGAAGACGGAAAACAGC 0.398 OR5W2 390148 broad.mit.edu 37 11 55681607 55681607 + Missense_Mutation SNP A G G TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr11:55681607A>G uc010rir.1 - 1 452 c.452T>C c.(451-453)GTG>GCG p.V151A NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGCTATTCCCACCAGATAAAC 0.458 GLYATL1 92292 broad.mit.edu 37 11 58722269 58722269 + Nonsense_Mutation SNP C A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr11:58722269C>A uc001nnf.2 + 6 589 c.213C>A c.(211-213)TAC>TAA p.Y71* uc001nng.1_Intron|GLYATL1_uc001nnh.1_Nonsense_Mutation_p.Y102*|GLYATL1_uc001nni.1_Nonsense_Mutation_p.Y71*|GLYATL1_uc001nnj.1_Nonsense_Mutation_p.Y71* Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 71 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) TGGATTCATACACAAACGTAT 0.373 NPAS4 266743 broad.mit.edu 37 11 66192332 66192332 + Silent SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr11:66192332C>T uc001ohx.1 + 7 2147 c.1971C>T c.(1969-1971)GGC>GGT p.G657G NPAS4_uc010rpc.1_Silent_p.G447G NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 657 transcription, DNA-dependent DNA binding|signal transducer activity 0 CTGGCACTGGCGGACTAGAGC 0.582 ARHGEF17 9828 broad.mit.edu 37 11 73020926 73020926 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr11:73020926G>A uc001otu.2 + 1 1264 c.1243G>A c.(1243-1245)GTG>ATG p.V415M NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 415 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 GGGCTGGGGCGTGTACCGCTC 0.657 RECQL 5965 broad.mit.edu 37 12 21643134 21643134 + Silent SNP A G G TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr12:21643134A>G uc001rex.2 - 5 741 c.393T>C c.(391-393)GAT>GAC p.D131D RECQL_uc001rey.2_Silent_p.D131D NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 131 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 AGTACATACCATCTGAACATA 0.274 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function MPHOSPH9 10198 broad.mit.edu 37 12 123661241 123661241 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr12:123661241C>T uc001uel.2 - 12 2101 c.1994G>A c.(1993-1995)CGT>CAT p.R665H MPHOSPH9_uc010tal.1_Missense_Mutation_p.R119H|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.R119H NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 665 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTACTTGGCACGCGAGGGTCT 0.353 UGGT2 55757 broad.mit.edu 37 13 96578002 96578002 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr13:96578002G>A uc001vmt.2 - 20 2397 c.2227C>T c.(2227-2229)CTC>TTC p.L743F NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 743 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 ATAATCCAGAGAGTGACTGCA 0.303 SLC38A6 145389 broad.mit.edu 37 14 61518523 61518525 + In_Frame_Del DEL ATG - - TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr14:61518523_61518525delATG uc001xfg.1 + 14 1185_1187 c.1069_1071delATG c.(1069-1071)ATGdel p.M358del SLC38A6_uc001xfh.1_In_Frame_Del_p.M358del|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_In_Frame_Del_p.M335del NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 358 amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) AGCTGTAACAATGATGTTTTTCT 0.340 SERPINA11 256394 broad.mit.edu 37 14 94912695 94912695 + Missense_Mutation SNP C G G rs148183767 TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr14:94912695C>G uc001ydd.1 - 3 950 c.890G>C c.(889-891)AGA>ACA p.R297T NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 297 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) GCCCCATTTTCTCAGGGTCTG 0.562 TRPM1 4308 broad.mit.edu 37 15 31360288 31360288 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr15:31360288C>T uc001zfm.2 - 4 349 c.221G>A c.(220-222)CGT>CAT p.R74H TRPM1_uc010azy.2_Translation_Start_Site|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 74 Extracellular (Potential). R -> C (in CSNB1C). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ATAGGATACACGGATATACTG 0.493 Unknown 0 broad.mit.edu 37 15 102292812 102292812 + Missense_Mutation SNP G T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr15:102292812G>T uc010usj.1 + 4 459 c.400G>T c.(400-402)GTG>TTG p.V134L uc002bxo.2_RNA|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; CTGCACTCGCGTGGGAACGAG 0.607 LOC283922 283922 broad.mit.edu 37 16 74371421 74371421 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr16:74371421C>T uc002fcr.2 - 11 1903 c.557G>A c.(556-558)GGT>GAT p.G186D LOC283922_uc010vms.1_RNA Homo sapiens cDNA FLJ39449 fis, clone PROST2008360, highly similar to Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 0 ATACCCTCCACCCTCGTTGAG 0.522 COX10 1352 broad.mit.edu 37 17 14110443 14110443 + Missense_Mutation SNP C A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr17:14110443C>A uc002gof.3 + 7 1449 c.1245C>A c.(1243-1245)AGC>AGA p.S415R COX10_uc010vvs.1_Missense_Mutation_p.S198R|COX10_uc010vvt.1_Missense_Mutation_p.S223R NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 415 Helical; (Potential). heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TCTTCTGCAGCCTGTGGCACC 0.657 NF1 4763 broad.mit.edu 37 17 29654691 29654691 + Nonsense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr17:29654691C>T uc002hgg.2 + 38 5776 c.5443C>T c.(5443-5445)CAG>TAG p.Q1815* NF1_uc002hgh.2_Nonsense_Mutation_p.Q1794*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q827*|NF1_uc010cso.2_Nonsense_Mutation_p.Q3* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1815 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.Q1815*(1)|p.H1814fs*43(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTTCATGCACCAGGAGTGTGA 0.493 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) ABHD3 171586 broad.mit.edu 37 18 19283692 19283692 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr18:19283692G>A uc002ktl.2 - 2 319 c.179C>T c.(178-180)ACC>ATC p.T60I ABHD3_uc002ktm.2_Missense_Mutation_p.T60I|ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_Missense_Mutation_p.T60I NM_138340 NP_612213 Q8WU67 ABHD3_HUMAN alpha/beta hydrolase domain containing protein 60 integral to membrane carboxylesterase activity central_nervous_system(1) 1 CTCACCCCCGGTCACTAACTG 0.547 PIK3R2 5296 broad.mit.edu 37 19 18280055 18280055 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr19:18280055C>T uc002nia.1 + 16 2650 c.2138C>T c.(2137-2139)GCG>GTG p.A713V PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 713 SH2 2. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 GTCACCCTGGCGCACCCAGTg 0.572 DHX34 9704 broad.mit.edu 37 19 47876058 47876058 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr19:47876058G>A uc010xyn.1 + 8 2181 c.1840G>A c.(1840-1842)GTC>ATC p.V614I DHX34_uc010elc.1_Missense_Mutation_p.V529I NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 614 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CGCACTTAGCGTCCAGTCGCC 0.672 SIGLEC12 89858 broad.mit.edu 37 19 52004890 52004890 + Missense_Mutation SNP G A A rs141817270 TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr19:52004890G>A uc002pwx.1 - 1 154 c.98C>T c.(97-99)ACG>ATG p.T33M SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_Translation_Start_Site NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 33 Ig-like V-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CTCCTGCACCGTCACGGACTT 0.473 ZNF761 388561 broad.mit.edu 37 19 53958627 53958627 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr19:53958627G>A uc010eqp.2 + 7 1324 c.866G>A c.(865-867)CGT>CAT p.R289H ZNF761_uc010ydy.1_Missense_Mutation_p.R235H|ZNF761_uc002qbt.1_Missense_Mutation_p.R235H NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 289 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACATGCCATCGTAGACTTCAT 0.398 EPS8L1 54869 broad.mit.edu 37 19 55597484 55597484 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr19:55597484G>A uc002qis.3 + 16 1678 c.1574G>A c.(1573-1575)GGA>GAA p.G525E EPS8L1_uc010ess.1_Missense_Mutation_p.G539E|EPS8L1_uc010yfr.1_Missense_Mutation_p.G461E|EPS8L1_uc002qiu.2_Missense_Mutation_p.G398E|EPS8L1_uc002qiv.2_Missense_Mutation_p.G203E|EPS8L1_uc002qiw.2_Missense_Mutation_p.G304E NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 525 SH3. cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GGGCAGGAGGGATATGTGCCC 0.622 NPHP1 4867 broad.mit.edu 37 2 110922207 110922207 + Nonsense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr2:110922207G>A uc002tfn.3 - 8 923 c.829C>T c.(829-831)CGA>TGA p.R277* NPHP1_uc002tfm.3_Intron|NPHP1_uc002tfl.3_Nonsense_Mutation_p.R277*|NPHP1_uc002tfo.3_Intron|NPHP1_uc010ywx.1_Intron|NPHP1_uc010fjv.1_Intron NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 277 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 ATCCTATTTCGCATCAGAACT 0.458 NCKAP5 344148 broad.mit.edu 37 2 133547632 133547632 + Silent SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr2:133547632G>A uc002ttp.2 - 13 1430 c.1056C>T c.(1054-1056)TCC>TCT p.S352S NCKAP5_uc002ttq.2_Silent_p.S352S NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 352 Ser-rich. protein binding 0 GCCACGTGTAGGAGGAGCCAC 0.522 ITGA6 3655 broad.mit.edu 37 2 173356005 173356005 + Silent SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr2:173356005C>T uc002uhp.1 + 22 3038 c.2835C>T c.(2833-2835)GAC>GAT p.D945D ITGA6_uc010zdy.1_Silent_p.D826D|ITGA6_uc002uho.1_Silent_p.D945D|ITGA6_uc010fqm.1_Silent_p.D576D NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 984 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GGGGGCTGGACAGCAAGGCGT 0.473 PLCL1 5334 broad.mit.edu 37 2 198950624 198950624 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr2:198950624C>T uc010fsp.2 + 2 2674 c.2383C>T c.(2383-2385)CGT>TGT p.R795C PLCL1_uc002uuv.3_Missense_Mutation_p.R716C NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 795 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GGCCATGATCCGTTTTGTTGT 0.398 ZNF831 128611 broad.mit.edu 37 20 57767405 57767405 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr20:57767405C>T uc002yan.2 + 1 1331 c.1331C>T c.(1330-1332)ACG>ATG p.T444M NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 444 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GACCTGCCCACGCCCTACACC 0.682 TMPRSS15 5651 broad.mit.edu 37 21 19687506 19687506 + Silent SNP G A A rs148711749 byFrequency TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr21:19687506G>A uc002ykw.2 - 17 2020 c.1989C>T c.(1987-1989)GAC>GAT p.D663D NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 663 Extracellular (Potential).|LDL-receptor class A 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GCAGATGACCGTCACAGAGAT 0.398 SLC5A1 6523 broad.mit.edu 37 22 32445981 32445981 + Nonsense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr22:32445981C>T uc003amc.2 + 2 419 c.187C>T c.(187-189)CGA>TGA p.R63* NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 63 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 CCTGGCAGGCCGAAGTATGGT 0.448 CARD10 29775 broad.mit.edu 37 22 37906263 37906263 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr22:37906263G>A uc003asx.1 - 4 868 c.865C>T c.(865-867)CGG>TGG p.R289W CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Missense_Mutation_p.R289W NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 289 Potential. activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) GCCGTCAGCCGCTGGTTCTCA 0.572 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 EPHA3 2042 broad.mit.edu 37 3 89478302 89478302 + Silent SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr3:89478302G>A uc003dqy.2 + 12 2346 c.2121G>A c.(2119-2121)TTG>TTA p.L707L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 707 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATGGTTCCTTGGATAGTTTCC 0.323 TSP Lung(6;0.00050) PTTG2 10744 broad.mit.edu 37 4 37962337 37962337 + Silent SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr4:37962337C>T uc011bye.1 + 1 282 c.282C>T c.(280-282)ACC>ACT p.T94T TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 94 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding 0 AAAAGATGACCGAGAAGACTG 0.403 SHROOM3 57619 broad.mit.edu 37 4 77661478 77661478 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr4:77661478C>T uc011cbx.1 + 5 3105 c.2152C>T c.(2152-2154)CGG>TGG p.R718W SHROOM3_uc011cbz.1_Missense_Mutation_p.R542W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R593W|SHROOM3_uc003hkg.2_Missense_Mutation_p.R496W NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 718 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CCATCTGGACCGGCAGGTTTC 0.677 HNRPDL 9987 broad.mit.edu 37 4 83348672 83348672 + Missense_Mutation SNP T C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr4:83348672T>C uc003hmr.2 - 4 1355 c.820A>G c.(820-822)AGA>GGA p.R274G HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.R274G NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 274 RRM 2. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) CAAAATCCTCTTCTTTCATTT 0.333 CLGN 1047 broad.mit.edu 37 4 141313760 141313760 + Frame_Shift_Del DEL A - - TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr4:141313760delA uc011chi.1 - 13 1689 c.1471delT c.(1471-1473)TGTfs p.C491fs CLGN_uc003iii.2_Frame_Shift_Del_p.C491fs NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 491 Helical; (Potential). protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) CTTGGCCAACAAAATGAAGTA 0.348 FGG 2266 broad.mit.edu 37 4 155533209 155533209 + Missense_Mutation SNP T C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr4:155533209T>C uc003ioj.2 - 3 409 c.268A>G c.(268-270)ATC>GTC p.I90V FGG_uc003iog.2_Missense_Mutation_p.I90V|FGG_uc003ioh.2_Missense_Mutation_p.I90V|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.I90V NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 90 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTGAGTTGGATTGCTTTTATC 0.313 SPOCK3 50859 broad.mit.edu 37 4 168155201 168155201 + Nonsense_Mutation SNP T A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr4:168155201T>A uc003iri.1 - 2 265 c.124A>T c.(124-126)AAA>TAA p.K42* SPOCK3_uc011cjp.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.K54*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cju.1_5'UTR|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.K42*|SPOCK3_uc003irk.3_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjw.1_RNA NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 42 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) AGCCATTGTTTATCATCCAGA 0.597 C5orf33 133686 broad.mit.edu 37 5 36195277 36195279 + In_Frame_Del DEL TCT - - TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr5:36195277_36195279delTCT uc003jkf.3 - 12 1296_1298 c.1296_1298delAGA c.(1294-1299)GAAGAT>GAT p.E432del C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_In_Frame_Del_p.E237del|C5orf33_uc003jkg.3_In_Frame_Del_p.E269del|C5orf33_uc011cov.1_In_Frame_Del_p.E291del NM_001085411 NP_001078880 Q4G0N4 NAKD1_HUMAN hypothetical protein LOC133686 isoform 1 432 NAD+ kinase activity 0 all_lung(31;5.63e-05) Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCGAAGCTCATCTTCTTTATTGA 0.399 ATOX1 475 broad.mit.edu 37 5 151131276 151131276 + Missense_Mutation SNP T C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr5:151131276T>C uc003luk.2 - 2 169 c.71A>G c.(70-72)AAT>AGT p.N24S NM_004045 NP_004036 O00244 ATOX1_HUMAN antioxidant protein 1 24 HMA. cellular copper ion homeostasis|copper ion transport|response to oxidative stress cytosol copper chaperone activity|copper-dependent protein binding 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TCCAAGCTTATTGAGGACCCG 0.527 CSNK2B 1460 broad.mit.edu 37 6 31637272 31637272 + Nonsense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr6:31637272C>T uc003nvr.1 + 6 884 c.544C>T c.(544-546)CAG>TAG p.Q182* CSNK2B_uc003nvs.1_Nonsense_Mutation_p.Q182*|LY6G5B_uc003nvt.1_5'Flank NM_001320 NP_001311 P67870 CSK2B_HUMAN casein kinase 2, beta polypeptide 182 adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway cytosol|nucleus|protein kinase CK2 complex identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding 0 ACCTGCCAACCAGTTTGTGCC 0.572 UNC5CL 222643 broad.mit.edu 37 6 40996200 40996200 + Missense_Mutation SNP T C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr6:40996200T>C uc003opi.2 - 9 1558 c.1469A>G c.(1468-1470)TAC>TGC p.Y490C NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN unc-5 homolog C-like 490 Death.|Cytoplasmic (Potential). signal transduction cytoplasm|integral to membrane ovary(2) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCACTCAGGTAGTTCTGGAT 0.667 OREG0017423 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRERF1 55809 broad.mit.edu 37 6 42231242 42231242 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr6:42231242G>A uc003osd.2 - 8 2263 c.1700C>T c.(1699-1701)CCG>CTG p.P567L TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.P567L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 567 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.P567P(1) ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) tggtggcggcggaggcggagg 0.383 EIF3B 8662 broad.mit.edu 37 7 2412424 2412424 + Missense_Mutation SNP C G G TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr7:2412424C>G uc003slx.2 + 12 1887 c.1804C>G c.(1804-1806)CTC>GTC p.L602V EIF3B_uc003sly.2_Missense_Mutation_p.L602V|EIF3B_uc003sma.2_Missense_Mutation_p.L330V NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 602 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GAAGATTGAACTCATCAGTAA 0.507 GAL3ST4 79690 broad.mit.edu 37 7 99764391 99764391 + Missense_Mutation SNP A T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr7:99764391A>T uc003utt.2 - 2 1180 c.163T>A c.(163-165)TCC>ACC p.S55T GAL3ST4_uc003utu.2_Missense_Mutation_p.S55T|GAL3ST4_uc010lgq.2_Intron NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 55 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGTCGTAGGGATGGGGCCGAG 0.622 DOCK4 9732 broad.mit.edu 37 7 111540437 111540437 + Missense_Mutation SNP A C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr7:111540437A>C uc003vfx.2 - 15 1742 c.1473T>G c.(1471-1473)CAT>CAG p.H491Q DOCK4_uc003vfy.2_Missense_Mutation_p.H491Q|DOCK4_uc003vga.1_Missense_Mutation_p.H96Q NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 491 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TACTGGAACAATGCCGAAACT 0.473 DLGAP2 9228 broad.mit.edu 37 8 1581155 1581155 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr8:1581155G>A uc003wpl.2 + 5 1610 c.1513G>A c.(1513-1515)GAA>AAA p.E505K DLGAP2_uc003wpm.2_Missense_Mutation_p.E505K NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 584 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCAAGATGACGAATGTATTCC 0.547 NUDCD1 84955 broad.mit.edu 37 8 110308796 110308796 + Missense_Mutation SNP G C C TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr8:110308796G>C uc003ynb.3 - 3 387 c.276C>G c.(274-276)GAC>GAG p.D92E NUDCD1_uc003yna.2_Missense_Mutation_p.D63E|NUDCD1_uc010mcl.2_Missense_Mutation_p.D5E|NUDCD1_uc010mcm.1_Missense_Mutation_p.D5E NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 92 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CTAAGGCAGTGTCCTAAAAAG 0.378 C9orf103 414328 broad.mit.edu 37 9 86258531 86258531 + Missense_Mutation SNP C T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr9:86258531C>T uc004amu.1 + 5 414 c.400C>T c.(400-402)CGC>TGC p.R134C C9orf103_uc004amt.1_Missense_Mutation_p.R88C|C9orf103_uc010mpv.1_Missense_Mutation_p.R88C NM_001001551 NP_001001551 Q5T6J7 GNTK_HUMAN gluconokinase-like protein 134 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity 0 CATCTCTGGACGCTTACTCAA 0.507 C9orf5 23731 broad.mit.edu 37 9 111822726 111822726 + Nonsense_Mutation SNP T A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chr9:111822726T>A uc004bdt.3 - 11 1662 c.1630A>T c.(1630-1632)AAA>TAA p.K544* C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Nonsense_Mutation_p.K536* NM_032012 NP_114401 Q9H330 CI005_HUMAN hypothetical protein LOC23731 544 integral to membrane central_nervous_system(1) 1 Myeloproliferative disorder(63;0.204) OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823) CCTAGAATTTTATGGAGCTAG 0.343 CXorf22 170063 broad.mit.edu 37 X 35985796 35985796 + Missense_Mutation SNP G A A TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chrX:35985796G>A uc004ddj.2 + 10 1720 c.1661G>A c.(1660-1662)CGC>CAC p.R554H CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 554 p.R554R(1) large_intestine(1)|lung(1)|ovary(1) 3 TTGGCAAAACGCAAGAATTAT 0.393 SSX8 280659 broad.mit.edu 37 X 52654550 52654550 + Splice_Site SNP A T T TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chrX:52654550A>T uc011moa.1 + 3 c.354_splice c.e3-2 SSX8_uc011mob.1_Splice_Site Homo sapiens cDNA FLJ56587 complete cds, highly similar to Protein SSX8. 0 TTTTTTTTTTAGGCCTTCAAT 0.413 PCDH19 57526 broad.mit.edu 37 X 99662130 99662131 + Frame_Shift_Del DEL GA - - TCGA-41-6646-01A-11D-1845-08 TCGA-41-6646-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6272bb0c-c47b-4cd2-9f59-398f1a75f020 2f6c3ea0-2797-4863-9a77-a6b67964b3a4 g.chrX:99662130_99662131delGA uc010nmz.2 - 1 3141_3142 c.1465_1466delTC c.(1465-1467)TCCfs p.S489fs PCDH19_uc004efw.3_Frame_Shift_Del_p.S489fs|PCDH19_uc004efx.3_Frame_Shift_Del_p.S489fs NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 489 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GATCTGGTAGGAGACACTGCCG 0.584