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 CDA 978 broad.mit.edu 37 1 20944980 20944980 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:20944980G>A uc001bdk.2 + 4 539 c.360G>A c.(358-360)CCG>CCA p.P120P CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA NM_001785 NP_001776 P32320 CDD_HUMAN cytidine deaminase 120 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) TGACCAAGCCGGATGGTACGT 0.403 GRIK3 2899 broad.mit.edu 37 1 37356675 37356675 + Silent SNP G A A rs150456185 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:37356675G>A uc001caz.2 - 2 273 c.138C>T c.(136-138)GAC>GAT p.D46D GRIK3_uc001cba.1_Silent_p.D46D NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 46 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGTTGGGGCCGTCCGCATACT 0.507 PTPRF 5792 broad.mit.edu 37 1 44086251 44086251 + Splice_Site SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:44086251G>A uc001cjr.2 + 31 5704 c.5364_splice c.e31+1 p.R1788_splice PTPRF_uc001cjs.2_Splice_Site_p.R1779_splice|PTPRF_uc001cju.2_Splice_Site_p.R1177_splice|PTPRF_uc009vwt.2_Splice_Site_p.R1348_splice|PTPRF_uc001cjv.2_Splice_Site_p.R1259_splice|PTPRF_uc001cjw.2_Splice_Site_p.R1014_splice NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGATGCCCGGGTGAGTGAGTG 0.547 NEGR1 257194 broad.mit.edu 37 1 72058647 72058647 + Missense_Mutation SNP A G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:72058647A>G uc001dfw.2 - 6 893 c.793T>C c.(793-795)TTC>CTC p.F265L NEGR1_uc001dfv.2_Missense_Mutation_p.F137L|NEGR1_uc010oqs.1_Missense_Mutation_p.F221L NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 265 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TGGCCATTGAAGAGCCTAGAA 0.373 COL24A1 255631 broad.mit.edu 37 1 86282552 86282552 + Frame_Shift_Del DEL T - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:86282552delT uc001dlj.2 - 47 3912 c.3870delA c.(3868-3870)AAAfs p.K1290fs COL24A1_uc001dli.2_Frame_Shift_Del_p.K426fs|COL24A1_uc010osd.1_Frame_Shift_Del_p.K590fs|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1290 Collagen-like 14. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTTGTATGCCTTTTGGCCCAA 0.388 RBMXL1 494115 broad.mit.edu 37 1 89448604 89448605 + Frame_Shift_Ins INS - GG GG TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:89448604_89448605insGG uc009wcx.2 - 3 1621_1622 c.905_906insCC c.(904-906)CCAfs p.P302fs CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Frame_Shift_Ins_p.P302fs NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 302 Ser-rich. nucleotide binding|RNA binding 0 CACCATAAGATGGCGGGGGCCC 0.475 HFM1 164045 broad.mit.edu 37 1 91740328 91740328 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:91740328C>T uc001doa.3 - 33 3727 c.3627G>A c.(3625-3627)GAG>GAA p.E1209E HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.E888E|HFM1_uc001dob.3_Silent_p.E397E|HFM1_uc010osv.1_Silent_p.E893E NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1209 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAAAACCAAACTCTTTAAGGT 0.299 FAM102B 284611 broad.mit.edu 37 1 109167309 109167309 + Silent SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:109167309T>C uc010ouy.1 + 6 575 c.495T>C c.(493-495)TCT>TCC p.S165S NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 165 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) CTGGTGAATCTGAATCTTTGC 0.403 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C T T rs4996269 by1000genomes TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:145296403C>T uc001end.3 + 3 360 c.325C>T c.(325-327)CTA>TTA p.L109L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L109L|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 109 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517 RPTN 126638 broad.mit.edu 37 1 152128277 152128280 + Frame_Shift_Del DEL TGTC - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:152128277_152128280delTGTC uc001ezs.1 - 3 1360_1363 c.1295_1298delGACA c.(1294-1299)AGACAAfs p.R432fs NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 432_433 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 ACTCTGGCCTTGTCTGTCTGTCTG 0.525 FLG 2312 broad.mit.edu 37 1 152282565 152282565 + Missense_Mutation SNP G C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:152282565G>C uc001ezu.1 - 3 4833 c.4797C>G c.(4795-4797)GAC>GAG p.D1599E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1599 Ser-rich.|Filaggrin 9. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCCTCACTGTCCCTGTCCT 0.592 Ichthyosis HDGF 3068 broad.mit.edu 37 1 156713958 156713958 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:156713958C>T uc001fpy.3 - 4 808 c.486G>A c.(484-486)CTG>CTA p.L162L HDGF_uc009wsd.2_Silent_p.L130L|HDGF_uc001fpz.3_Silent_p.L155L|HDGF_uc009wse.2_Silent_p.L178L|HDGF_uc010phr.1_Silent_p.L185L|HDGF_uc009wsf.2_Silent_p.L130L|HDGF_uc009wsg.2_Silent_p.L162L NM_004494 NP_004485 P51858 HDGF_HUMAN hepatoma-derived growth factor isoform a 162 Bipartite nuclear localization signal.|Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding lung(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CAGTTACCTCCAGCAAGTCCC 0.612 PTGS2 5743 broad.mit.edu 37 1 186645642 186645642 + Nonsense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:186645642C>T uc001gsb.2 - 7 1064 c.927G>A c.(925-927)TGG>TGA p.W309* PTGS2_uc009wyo.2_Nonsense_Mutation_p.W156* NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 309 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GCTCATCACCCCATTCAGGAT 0.448 PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:214557049_214557051delCCT uc001hkk.1 - 13 2418_2420 c.2147_2149delAGG c.(2146-2151)GAGGCT>GCT p.E716del PTPN14_uc010pty.1_In_Frame_Del_p.E617del NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 OR6F1 343169 broad.mit.edu 37 1 247875393 247875393 + Missense_Mutation SNP A C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr1:247875393A>C uc001idj.1 - 1 665 c.665T>G c.(664-666)ATC>AGC p.I222S NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GATGGTGCTGATGATGTACAC 0.532 TET1 80312 broad.mit.edu 37 10 70332622 70332622 + Missense_Mutation SNP A G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr10:70332622A>G uc001jok.3 + 2 1032 c.527A>G c.(526-528)CAA>CGA p.Q176R NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 176 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 ATTGGTGTACAAAATCCCTCT 0.433 ATRNL1 26033 broad.mit.edu 37 10 117061383 117061383 + Missense_Mutation SNP C T T rs140372621 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr10:117061383C>T uc001lcg.2 + 17 3034 c.2648C>T c.(2647-2649)GCG>GTG p.A883V ATRNL1_uc010qsm.1_Missense_Mutation_p.A58V|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 883 Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AATCAAAATGCGAGGCCGTGC 0.378 HSPA12A 259217 broad.mit.edu 37 10 118434624 118434624 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr10:118434624C>T uc001lct.2 - 12 1801 c.1696G>A c.(1696-1698)GAC>AAC p.D566N HSPA12A_uc001lcu.2_Missense_Mutation_p.D483N NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 566 ATP binding ovary(1) 1 all cancers(201;0.0158) TCAAAGACGTCGGTGCACCAC 0.622 TRIM21 6737 broad.mit.edu 37 11 4410895 4410895 + Missense_Mutation SNP C A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:4410895C>A uc001lyy.1 - 3 606 c.493G>T c.(493-495)GCA>TCA p.A165S NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 165 Potential. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) TTCCAGTCTGCTCTCTTTATT 0.507 OR51G1 79324 broad.mit.edu 37 11 4944754 4944754 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:4944754G>A uc010qyr.1 - 1 816 c.816C>T c.(814-816)CGC>CGT p.R272R NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGTACAACGCGGGGCAGAT 0.498 C11orf41 25758 broad.mit.edu 37 11 33566719 33566719 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:33566719G>A uc001mup.3 + 2 2431 c.2307G>A c.(2305-2307)ATG>ATA p.M769I C11orf41_uc001mun.1_Missense_Mutation_p.M769I NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 763 integral to membrane ovary(2) 2 ACCTGGAGATGCCCAGAGCAT 0.592 LRRC4C 57689 broad.mit.edu 37 11 40136459 40136459 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:40136459T>C uc001mxa.1 - 2 3348 c.1384A>G c.(1384-1386)ATG>GTG p.M462V LRRC4C_uc001mxc.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxd.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxb.1_Missense_Mutation_p.M458V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 462 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GACGGTTCCATAGTCTCTACT 0.507 INCENP 3619 broad.mit.edu 37 11 61895641 61895641 + Missense_Mutation SNP C T T rs61744797 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:61895641C>T uc001nsw.1 + 2 210 c.8C>T c.(7-9)ACG>ATG p.T3M INCENP_uc009ynv.2_Missense_Mutation_p.T3M|INCENP_uc009ynw.1_Missense_Mutation_p.T3M|INCENP_uc001nsx.1_Missense_Mutation_p.T3M NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 3 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 ACCATGGGGACGACGGCCCCA 0.567 RSF1 51773 broad.mit.edu 37 11 77413468 77413468 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:77413468T>C uc001oyn.2 - 6 926 c.806A>G c.(805-807)AAT>AGT p.N269S RSF1_uc001oym.2_Missense_Mutation_p.N17S NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 269 Glu-rich. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TTCTAGAACATTGGCTGTAGA 0.348 KCNJ5 3762 broad.mit.edu 37 11 128786516 128786516 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr11:128786516C>T uc001qet.2 + 3 1464 c.1150C>T c.(1150-1152)CCA>TCA p.P384S KCNJ5_uc009zck.2_Missense_Mutation_p.P384S|KCNJ5_uc001qew.2_Missense_Mutation_p.P384S NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 384 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CCCCAGCCCCCCACTGCTGGG 0.627 LGR5 8549 broad.mit.edu 37 12 71977624 71977624 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr12:71977624G>A uc001swl.2 + 18 1882 c.1834G>A c.(1834-1836)GTG>ATG p.V612M LGR5_uc001swm.2_Missense_Mutation_p.V588M|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 612 Helical; Name=2; (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 CTCCAGTGCCGTGCTGGCTGG 0.507 CCDC41 51134 broad.mit.edu 37 12 94761707 94761707 + Missense_Mutation SNP C G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr12:94761707C>G uc001tdd.2 - 11 1792 c.1206G>C c.(1204-1206)GAG>GAC p.E402D CCDC41_uc001tde.2_Missense_Mutation_p.E402D|CCDC41_uc009zsw.1_RNA NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 394 Potential. 0 CTAATCTGTTCTCGAGTTCTA 0.343 RBM19 9904 broad.mit.edu 37 12 114282581 114282581 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr12:114282581C>T uc009zwi.2 - 23 2821 c.2677G>A c.(2677-2679)GCC>ACC p.A893T RBM19_uc001tvn.3_Missense_Mutation_p.A893T|RBM19_uc001tvm.2_Missense_Mutation_p.A893T NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 893 RRM 6. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) TGACACAGGGCGTTGAAGGCT 0.642 RNF17 56163 broad.mit.edu 37 13 25417989 25417989 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr13:25417989C>T uc001upr.2 + 20 2752 c.2711C>T c.(2710-2712)TCT>TTT p.S904F RNF17_uc010tdd.1_Missense_Mutation_p.S763F|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S904F|RNF17_uc001ups.2_Missense_Mutation_p.S843F|RNF17_uc010aac.2_Missense_Mutation_p.S102F|RNF17_uc010aad.2_5'UTR NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 904 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCTGCAAAATCTCTACCTAAT 0.323 SHISA2 387914 broad.mit.edu 37 13 26621160 26621160 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr13:26621160C>T uc001uqm.1 - 2 464 c.379G>A c.(379-381)GCC>ACC p.A127T NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 127 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 ATGATAAAGGCGACAAACACG 0.542 C13orf18 80183 broad.mit.edu 37 13 46937309 46937309 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr13:46937309C>T uc010acl.2 - 6 1471 c.866G>A c.(865-867)CGT>CAT p.R289H C13orf18_uc001vbf.3_Missense_Mutation_p.R222H|C13orf18_uc001vbg.3_Missense_Mutation_p.R17H|C13orf18_uc010tfz.1_Missense_Mutation_p.R132H|C13orf18_uc010acm.2_Missense_Mutation_p.R154H|C13orf18_uc010acn.2_Missense_Mutation_p.R74H|C13orf18_uc001vbe.3_Missense_Mutation_p.R289H|C13orf18_uc001vbh.3_Missense_Mutation_p.R289H|C13orf18_uc001vbi.3_Missense_Mutation_p.R132H|C13orf18_uc010aco.1_Missense_Mutation_p.R289H NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 289 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) ATGGTAAGTACGTGTTTCAGT 0.393 PCDH17 27253 broad.mit.edu 37 13 58299189 58299189 + Missense_Mutation SNP C G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr13:58299189C>G uc001vhq.1 + 4 4133 c.3241C>G c.(3241-3243)CCT>GCT p.P1081A PCDH17_uc010aec.1_Missense_Mutation_p.P1080A|PCDH17_uc001vhr.1_Missense_Mutation_p.P170A NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1081 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATATCTGTCACCTAGTAAGCA 0.527 DACH1 1602 broad.mit.edu 37 13 72147083 72147083 + Silent SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr13:72147083T>C uc010thn.1 - 5 1611 c.1188A>G c.(1186-1188)GCA>GCG p.A396A DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 448 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGGTGACAGATGCTGGAGGTA 0.473 ARID4A 5926 broad.mit.edu 37 14 58771705 58771705 + Missense_Mutation SNP A G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr14:58771705A>G uc001xdp.2 + 4 415 c.161A>G c.(160-162)GAC>GGC p.D54G ARID4A_uc010apf.1_RNA|ARID4A_uc001xdo.2_Missense_Mutation_p.D54G|ARID4A_uc001xdq.2_Missense_Mutation_p.D54G NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 54 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 GTACAAGATGACCAAGTAAAG 0.279 SYNE2 23224 broad.mit.edu 37 14 64450574 64450574 + Silent SNP A G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr14:64450574A>G uc001xgm.2 + 18 2351 c.2121A>G c.(2119-2121)GAA>GAG p.E707E SYNE2_uc001xgl.2_Silent_p.E707E NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 707 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTCAGTAGAACTTCCTGAAA 0.259 ATP10A 57194 broad.mit.edu 37 15 26026298 26026298 + Silent SNP G A A rs145190957 byFrequency TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr15:26026298G>A uc010ayu.2 - 2 628 c.522C>T c.(520-522)AAC>AAT p.N174N NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 174 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGAAGATTTCGTTGCAGCGAA 0.488 SPINT1 6692 broad.mit.edu 37 15 41146113 41146113 + Missense_Mutation SNP C T T rs145193299 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr15:41146113C>T uc001zna.2 + 5 1151 c.947C>T c.(946-948)GCG>GTG p.A316V SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Missense_Mutation_p.A316V NM_181642 NP_857593 O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 316 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGGGCTCAGGCGACTTTCCCC 0.592 GABPB1 2553 broad.mit.edu 37 15 50593063 50593063 + Missense_Mutation SNP G T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr15:50593063G>T uc001zyb.2 - 6 1080 c.656C>A c.(655-657)TCT>TAT p.S219Y GABPB1_uc001zya.2_Missense_Mutation_p.S207Y|GABPB1_uc010ufg.1_Missense_Mutation_p.S143Y|GABPB1_uc001zyc.2_Missense_Mutation_p.S207Y|GABPB1_uc001zyd.2_Missense_Mutation_p.S207Y|GABPB1_uc001zye.2_Missense_Mutation_p.S219Y|GABPB1_uc001zyf.2_Missense_Mutation_p.S207Y NM_005254 NP_005245 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta 219 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1) 1 TGATGTAGAAGAGTTTCCAAA 0.363 USP7 7874 broad.mit.edu 37 16 8998407 8998407 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr16:8998407G>A uc002czl.2 - 15 1788 c.1589C>T c.(1588-1590)GCG>GTG p.A530V USP7_uc010uyk.1_Missense_Mutation_p.A431V|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.A431V|USP7_uc002czk.2_Missense_Mutation_p.A514V|USP7_uc010uyl.1_Intron NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 530 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 GTCGGTGACCGCCTGTAAAAC 0.502 ERCC4 2072 broad.mit.edu 37 16 14029049 14029049 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr16:14029049G>A uc002dce.2 + 8 1269 c.1260G>A c.(1258-1260)CTG>CTA p.L420L ERCC4_uc010uyz.1_5'UTR NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 420 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 GTTCCCAGCTGAGAGACTATA 0.403 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum CNOT1 23019 broad.mit.edu 37 16 58587731 58587731 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr16:58587731C>T uc002env.2 - 22 3218 c.2925G>A c.(2923-2925)TTG>TTA p.L975L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L970L|CNOT1_uc002enx.2_Silent_p.L975L|CNOT1_uc002enz.1_Silent_p.L404L|CNOT1_uc010vik.1_5'Flank NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 975 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGATAGAAGCCAAATGCTGAC 0.368 PIK3R5 23533 broad.mit.edu 37 17 8791674 8791674 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr17:8791674C>T uc002glt.2 - 10 1497 c.1430G>A c.(1429-1431)CGC>CAC p.R477H PIK3R5_uc010vuz.1_Missense_Mutation_p.R477H|PIK3R5_uc002glu.3_Missense_Mutation_p.R91H|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Missense_Mutation_p.R91H NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 477 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GGGCAGGGAGCGGGAGCGCTG 0.721 MYH13 8735 broad.mit.edu 37 17 10215249 10215249 + Nonsense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr17:10215249G>A uc002gmk.1 - 32 4600 c.4510C>T c.(4510-4512)CGA>TGA p.R1504* NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1504 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TTGTTCTCTCGCCTCAGTGTC 0.542 KRT35 3886 broad.mit.edu 37 17 39637207 39637207 + Missense_Mutation SNP C A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr17:39637207C>A uc002hws.2 - 1 186 c.143G>T c.(142-144)AGT>ATT p.S48I NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 48 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) GGCAGAGAAACTTCTGGCCAC 0.622 CYTH1 9267 broad.mit.edu 37 17 76705733 76705733 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr17:76705733T>C uc002jvw.2 - 2 175 c.104A>G c.(103-105)CAG>CGG p.Q35R CYTH1_uc010wtw.1_5'UTR|CYTH1_uc010wtx.1_5'UTR NM_017456 NP_059430 Q15438 CYH1_HUMAN cytohesin 1 isoform 2 35 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CTCTCCTACCTGAATGTCAGC 0.388 ZNF556 80032 broad.mit.edu 37 19 2878077 2878077 + Missense_Mutation SNP C T T rs139830711 byFrequency TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:2878077C>T uc002lwp.1 + 4 1208 c.1121C>T c.(1120-1122)ACG>ATG p.T374M ZNF556_uc002lwq.2_Missense_Mutation_p.T373M NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 374 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 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) AAATGTGAAACGTGTGGGAAA 0.483 C19orf28 126321 broad.mit.edu 37 19 3557226 3557226 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:3557226C>T uc002lxz.2 - 1 346 c.176G>A c.(175-177)GGG>GAG p.G59E C19orf28_uc002lxw.2_Missense_Mutation_p.G59E|C19orf28_uc002lxx.2_Missense_Mutation_p.G59E|C19orf28_uc002lxy.2_Missense_Mutation_p.G59E NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 59 Helical; (Potential). transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCAGCAGCCCCGCGCCGCG 0.726 ATCAY 85300 broad.mit.edu 37 19 3918804 3918804 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:3918804C>T uc002lyy.3 + 11 1432 c.1002C>T c.(1000-1002)AGC>AGT p.S334S ATCAY_uc010xhz.1_Silent_p.S340S|ATCAY_uc010dts.2_Silent_p.S91S NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 334 transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CTGTCCACAGCGCGAGGCCCC 0.612 FUT3 2525 broad.mit.edu 37 19 5844141 5844141 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:5844141G>A uc002mdk.2 - 2 807 c.710C>T c.(709-711)ACG>ATG p.T237M FUT3_uc002mdm.2_Missense_Mutation_p.T237M|FUT3_uc002mdj.2_Missense_Mutation_p.T237M|FUT3_uc002mdl.2_Missense_Mutation_p.T237M NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 237 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 CCGGGACAGCGTCTCCATCAT 0.622 TNFSF14 8740 broad.mit.edu 37 19 6669943 6669943 + Silent SNP C T T rs140577063 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:6669943C>T uc002mfk.1 - 2 520 c.138G>A c.(136-138)CTG>CTA p.L46L TNFSF14_uc002mfj.1_Intron NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 46 Helical; Signal-anchor for type II membrane protein; (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CGGCCCCCATCAGCAACAGCA 0.662 MUC16 94025 broad.mit.edu 37 19 9047128 9047128 + Missense_Mutation SNP C G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:9047128C>G uc002mkp.2 - 5 34707 c.34503G>C c.(34501-34503)ATG>ATC p.M11501I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11503 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCTGGGAACCATTGTGTTGG 0.507 MUC16 94025 broad.mit.edu 37 19 9082859 9082859 + Nonsense_Mutation SNP T A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:9082859T>A uc002mkp.2 - 1 9160 c.8956A>T c.(8956-8958)AGA>TGA p.R2986* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2987 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGGCATATCTAGGGTCCCCT 0.498 ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:12430217delA uc002mtp.2 - 4 860 c.622delT c.(622-624)TGGfs p.W208fs ZNF563_uc002mtq.2_Intron NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAACTGGGCCAAAAAAAAGCT 0.393 NOTCH3 4854 broad.mit.edu 37 19 15289676 15289676 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:15289676C>T uc002nan.2 - 23 3871 c.3795G>A c.(3793-3795)CCG>CCA p.P1265P NOTCH3_uc002nao.1_Silent_p.P1213P NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1265 Extracellular (Potential).|EGF-like 32. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCCCAGGACCCGGGCTAGGAC 0.647 IL12RB1 3594 broad.mit.edu 37 19 18180414 18180414 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:18180414G>A uc002nhw.1 - 10 1195 c.1131C>T c.(1129-1131)GAC>GAT p.D377D IL12RB1_uc010xqb.1_Silent_p.D377D|IL12RB1_uc002nhx.1_Silent_p.D417D NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 377 Extracellular (Potential).|Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 CAAGGCCCCCGTCCTGGCCCA 0.627 ZNF91 7644 broad.mit.edu 37 19 23544856 23544856 + Frame_Shift_Del DEL G - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:23544856delG uc002nre.2 - 4 1038 c.925delC c.(925-927)CTTfs p.L309fs ZNF91_uc010xrj.1_Frame_Shift_Del_p.L277fs NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 309 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGTTTAGCAAGGGTTGAAGAA 0.403 GPATCH1 55094 broad.mit.edu 37 19 33604693 33604693 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:33604693C>T uc002nug.1 + 14 2227 c.1913C>T c.(1912-1914)CCA>CTA p.P638L GPATCH1_uc002nuh.1_Missense_Mutation_p.P15L NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 638 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GTTGGCTTACCAAGAGTGAAG 0.418 WDR88 126248 broad.mit.edu 37 19 33666419 33666421 + In_Frame_Del DEL TCA - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:33666419_33666421delTCA uc002nui.2 + 11 1438_1440 c.1360_1362delTCA c.(1360-1362)TCAdel p.S458del NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 458 Poly-Ser. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) TACTTCATCGTCATCATCATCAT 0.527 CYP2F1 1572 broad.mit.edu 37 19 41622139 41622139 + Missense_Mutation SNP G A A rs142026539 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:41622139G>A uc002opu.1 + 2 102 c.46G>A c.(46-48)GTC>ATC p.V16I CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 16 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CCTGGCTCTCGTCTGTCTGCT 0.577 NLRP8 126205 broad.mit.edu 37 19 56477731 56477731 + Missense_Mutation SNP G A A rs142437909 by1000genomes TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr19:56477731G>A uc002qmh.2 + 5 2437 c.2366G>A c.(2365-2367)CGT>CAT p.R789H NLRP8_uc010etg.2_Missense_Mutation_p.R789H NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 789 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCCCGGTGCCGTCTGCAGTGT 0.547 C2orf89 129293 broad.mit.edu 37 2 85051303 85051303 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr2:85051303G>A uc010ysl.1 - 6 1197 c.1108C>T c.(1108-1110)CGG>TGG p.R370W C2orf89_uc002sou.3_Missense_Mutation_p.R321W NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 370 Extracellular (Potential). integral to membrane ovary(1) 1 AGAGTGGGCCGTGTGGAGGTC 0.567 TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr2:98427639delT uc002syh.3 - 18 2149 c.1920delA c.(1918-1920)AAAfs p.K640fs NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 640 integral to membrane ovary(4)|central_nervous_system(2) 6 TCCCCTCTAATTTTTTTGCAG 0.393 MYO7B 4648 broad.mit.edu 37 2 128384614 128384614 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr2:128384614G>A uc002top.2 + 31 4255 c.4202G>A c.(4201-4203)CGC>CAC p.R1401H MYO7B_uc002toq.1_Missense_Mutation_p.R254H|MYO7B_uc002tor.1_Missense_Mutation_p.R254H NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1401 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GACGCCGCCCGCCTGCAGTGG 0.637 YSK4 80122 broad.mit.edu 37 2 135738842 135738842 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr2:135738842G>A uc002tue.1 - 9 3500 c.3469C>T c.(3469-3471)CCA>TCA p.P1157S YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc002tuh.3_Missense_Mutation_p.P885S|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1157 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TCAGGCAATGGCCCAAAACGG 0.418 FMNL2 114793 broad.mit.edu 37 2 153463859 153463859 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr2:153463859G>A uc002tye.2 + 10 1250 c.883G>A c.(883-885)GGA>AGA p.G295R NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 295 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 TCAGGTTTGTGGAGAAAAACA 0.313 LOC200726 200726 broad.mit.edu 37 2 207509344 207509344 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr2:207509344G>A uc010fuh.1 + 2 559 c.384G>A c.(382-384)GCG>GCA p.A128A NM_001102659 NP_001096129 hypothetical protein LOC200726 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) TCTCAGCAGCGCAGCCACAGC 0.488 R3HDML 140902 broad.mit.edu 37 20 42965819 42965819 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr20:42965819G>A uc002xls.1 + 1 194 c.22G>A c.(22-24)GTG>ATG p.V8M NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 8 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GCCCAGCACCGTGGGCCTGGC 0.647 SLC17A9 63910 broad.mit.edu 37 20 61595026 61595026 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr20:61595026C>T uc002yea.3 + 7 1000 c.816C>T c.(814-816)GAC>GAT p.D272D SLC17A9_uc002ydz.3_Silent_p.D266D|SLC17A9_uc011aap.1_Silent_p.D292D NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 272 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 CCTTCCCCGACGCCAAGGTGA 0.667 PWP2 5822 broad.mit.edu 37 21 45545899 45545899 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr21:45545899T>C uc002zeb.2 + 16 2063 c.1973T>C c.(1972-1974)TTG>TCG p.L658S NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 658 cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TAGGAATTTTTGAACCGAAGA 0.537 C21orf29 54084 broad.mit.edu 37 21 45919792 45919792 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr21:45919792C>T uc002zfe.1 - 12 1950 c.1884G>A c.(1882-1884)GCG>GCA p.A628A C21orf29_uc010gpv.1_Silent_p.A560A NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 628 EAR 7. cell adhesion extracellular region structural molecule activity 0 GGCTGTGCACCGCCACGAAGC 0.706 ZNF280B 140883 broad.mit.edu 37 22 22843649 22843649 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr22:22843649G>A uc002zwc.1 - 4 851 c.75C>T c.(73-75)GAC>GAT p.D25D LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CAGCATCTTCGTCATCTACTT 0.378 SCUBE1 80274 broad.mit.edu 37 22 43603579 43603579 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr22:43603579C>T uc003bdt.1 - 21 2863 c.2775G>A c.(2773-2775)GGG>GGA p.G925G NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 925 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CGTACAGGCGCCCATCGCGCA 0.597 MOV10L1 54456 broad.mit.edu 37 22 50588117 50588117 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr22:50588117G>A uc003bjj.2 + 20 2784 c.2701G>A c.(2701-2703)GGG>AGG p.G901R MOV10L1_uc003bjk.3_Missense_Mutation_p.G901R|MOV10L1_uc011arp.1_Missense_Mutation_p.G881R|MOV10L1_uc003bjl.2_Missense_Mutation_p.G28R|MOV10L1_uc003bjm.1_5'UTR NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 901 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CATTCCTCTGGGGCTGATGTC 0.562 OREG0026674 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DNAH12 201625 broad.mit.edu 37 3 57493504 57493504 + Missense_Mutation SNP C A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr3:57493504C>A uc003dit.2 - 8 944 c.763G>T c.(763-765)GCA>TCA p.A255S DNAH12_uc003diu.2_Missense_Mutation_p.A255S NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN dynein heavy chain domain 2 isoform 1 255 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity pancreas(1)|skin(1) 2 TTCTCTTCTGCGTTTCTAGTT 0.333 MORC1 27136 broad.mit.edu 37 3 108682419 108682419 + Frame_Shift_Del DEL T - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr3:108682419delT uc003dxl.2 - 27 2728 c.2641delA c.(2641-2643)ATAfs p.I881fs MORC1_uc011bhn.1_Frame_Shift_Del_p.I860fs NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTCCTCTTTATTTTTTTTTCA 0.284 SEMA5B 54437 broad.mit.edu 37 3 122632727 122632727 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr3:122632727C>T uc003efz.1 - 15 2414 c.2110G>A c.(2110-2112)GTG>ATG p.V704M SEMA5B_uc011bju.1_Missense_Mutation_p.V646M|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.V704M|SEMA5B_uc010hro.1_Missense_Mutation_p.V646M|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 704 Extracellular (Potential).|TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CTCTTGCCCACGCAGATGCGG 0.657 RTP1 132112 broad.mit.edu 37 3 186917605 186917605 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr3:186917605G>A uc003frg.2 + 2 569 c.539G>A c.(538-540)CGC>CAC p.R180H NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 180 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GTGGCCAGCCGCCAGGACAAC 0.682 CCDC149 91050 broad.mit.edu 37 4 24878210 24878210 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr4:24878210T>C uc011bxr.1 - 3 317 c.173A>G c.(172-174)AAT>AGT p.N58S CCDC149_uc003grc.2_Missense_Mutation_p.N58S|CCDC149_uc003grb.2_RNA|CCDC149_uc003grd.2_Missense_Mutation_p.N58S|CCDC149_uc003gre.2_Missense_Mutation_p.N3S NM_173463 NP_775734 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 isoform 1 58 0 Breast(46;0.173) CCGGAGCTGATTGGCCATGAG 0.517 EPHA5 2044 broad.mit.edu 37 4 66217156 66217156 + Missense_Mutation SNP C A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr4:66217156C>A uc003hcy.2 - 14 2652 c.2459G>T c.(2458-2460)GGA>GTA p.G820V EPHA5_uc003hcx.2_Missense_Mutation_p.G752V|EPHA5_uc003hcz.2_Missense_Mutation_p.G798V|EPHA5_uc011cah.1_Missense_Mutation_p.G821V|EPHA5_uc011cai.1_Missense_Mutation_p.G799V|EPHA5_uc003hda.2_Missense_Mutation_p.G821V NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 820 Cytoplasmic (Potential).|Protein kinase. G -> E (in Ref. 3; CAD97914). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCGGGAAAGTCCAAAGTCAGA 0.443 TSP Lung(17;0.13) GK2 2712 broad.mit.edu 37 4 80328891 80328891 + Missense_Mutation SNP C A A rs147498656 byFrequency TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr4:80328891C>A uc003hlu.2 - 1 482 c.464G>T c.(463-465)CGT>CTT p.R155L NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 155 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 AAGCATCCAACGAAGTTTTAC 0.408 SPARCL1 8404 broad.mit.edu 37 4 88414795 88414795 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr4:88414795T>C uc010ikm.2 - 5 1729 c.1157A>G c.(1156-1158)CAA>CGA p.Q386R SPARCL1_uc011cdc.1_Missense_Mutation_p.Q261R|SPARCL1_uc003hqs.3_Missense_Mutation_p.Q386R|SPARCL1_uc011cdd.1_Missense_Mutation_p.Q261R|SPARCL1_uc003hqt.2_Missense_Mutation_p.Q386R NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 386 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TTTTTCTCTTTGCTCCTCAAT 0.443 FAM198B 51313 broad.mit.edu 37 4 159052126 159052126 + Silent SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr4:159052126T>C uc003ipp.3 - 4 1616 c.1164A>G c.(1162-1164)AGA>AGG p.R388R FAM198B_uc003ipq.3_Silent_p.R396R|FAM198B_uc003ipr.3_Silent_p.R388R NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 388 Extracellular (Potential). Golgi membrane|integral to membrane 0 CCTTGCGAGGTCTGAATCCAC 0.413 AHRR 57491 broad.mit.edu 37 5 428029 428029 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:428029C>T uc003jav.2 + 9 926 c.882C>T c.(880-882)CCC>CCT p.P294P AHRR_uc003jaw.2_Silent_p.P272P|AHRR_uc010isy.2_Silent_p.P122P|AHRR_uc010isz.2_Silent_p.P272P|AHRR_uc003jax.2_Silent_p.P35P|AHRR_uc003jay.2_Silent_p.P132P NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TTGCGGCACCCGTTCTCCTCC 0.577 SLC6A19 340024 broad.mit.edu 37 5 1216774 1216774 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:1216774C>T uc003jbw.3 + 7 1045 c.989C>T c.(988-990)ACA>ATA p.T330I NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 330 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTCCGCGCCACACAGCGCTAC 0.607 GZMK 3003 broad.mit.edu 37 5 54329635 54329635 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:54329635G>A uc003jpl.1 + 5 720 c.676G>A c.(676-678)GCT>ACT p.A226T NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 226 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TGTCTTCCACGCTATAGTCTC 0.453 PIK3R1 5295 broad.mit.edu 37 5 67589138 67589138 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:67589138G>A uc003jva.2 + 10 1686 c.1126G>A c.(1126-1128)GGA>AGA p.G376R PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 376 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.G376R(3)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAGGAAAGGGGGAAATAACAA 0.308 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) SLCO4C1 353189 broad.mit.edu 37 5 101599411 101599411 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:101599411G>A uc003knm.2 - 4 1163 c.876C>T c.(874-876)TAC>TAT p.Y292Y NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 292 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CAACATCAATGTATATGGTTA 0.358 PCDHB5 26167 broad.mit.edu 37 5 140516927 140516927 + Missense_Mutation SNP C G G rs138297526 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:140516927C>G uc003liq.2 + 1 2128 c.1911C>G c.(1909-1911)CAC>CAG p.H637Q NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 637 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCCAAGCACAGGCTGGTGG 0.697 PCDHB7 56129 broad.mit.edu 37 5 140554075 140554075 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:140554075C>T uc003lit.2 + 1 1833 c.1659C>T c.(1657-1659)GAC>GAT p.D553D NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 553 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGCTGGACGCCAACGACA 0.721 PCDHGA2 56113 broad.mit.edu 37 5 140720777 140720777 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr5:140720777C>T uc003ljk.1 + 1 2424 c.2239C>T c.(2239-2241)CGG>TGG p.R747W PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.R747W|PCDHGA3_uc011dap.1_5'Flank NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 747 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGGGGTTCGGGCTTTCCT 0.627 HLA-J 3137 broad.mit.edu 37 6 29977342 29977342 + Missense_Mutation SNP A T T rs113017032 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:29977342A>T uc003rtl.3 + 5 723 c.361A>T c.(361-363)AGG>TGG p.R121W HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038). 0 TGGGACTGAGAGGCAAGATTT 0.438 DNAH8 1769 broad.mit.edu 37 6 38850799 38850799 + Missense_Mutation SNP T G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:38850799T>G uc003ooe.1 + 52 7921 c.7321T>G c.(7321-7323)TTG>GTG p.L2441V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AACAAATTTTTTGATAGACAC 0.323 SLC35B2 347734 broad.mit.edu 37 6 44222858 44222858 + Frame_Shift_Del DEL T - - TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:44222858delT uc003oxd.2 - 4 1020 c.884delA c.(883-885)TATfs p.Y295fs SLC35B2_uc011dvt.1_Frame_Shift_Del_p.Y198fs|SLC35B2_uc011dvu.1_Frame_Shift_Del_p.Y162fs NM_178148 NP_835361 Q8TB61 S35B2_HUMAN solute carrier family 35, member B2 295 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGACATCTTATAGGCAAACAG 0.532 GSTA5 221357 broad.mit.edu 37 6 52699018 52699018 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:52699018C>T uc003pba.1 - 5 405 c.335G>A c.(334-336)TGT>TAT p.C112Y NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 112 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) CTCTGGTTGACATATGAGCAG 0.373 MYO6 4646 broad.mit.edu 37 6 76545638 76545638 + Missense_Mutation SNP G C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:76545638G>C uc003pih.1 + 7 797 c.518G>C c.(517-519)GGA>GCA p.G173A MYO6_uc003pig.1_Missense_Mutation_p.G173A|MYO6_uc003pii.1_Missense_Mutation_p.G173A NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 173 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GAATCCTATGGAACAGGTCAA 0.274 SIM1 6492 broad.mit.edu 37 6 100896034 100896034 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:100896034C>T uc003pqj.3 - 7 1045 c.838G>A c.(838-840)GCG>ACG p.A280T SIM1_uc010kcu.2_Missense_Mutation_p.A280T NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 280 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AAATGGTGCGCGCAGCGCAGG 0.622 ASCC3 10973 broad.mit.edu 37 6 101073206 101073206 + Silent SNP A G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:101073206A>G uc003pqk.2 - 30 4976 c.4647T>C c.(4645-4647)ATT>ATC p.I1549I NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1549 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AATGGCTTCTAATTGCTGTTG 0.368 SYNE1 23345 broad.mit.edu 37 6 152554981 152554981 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:152554981G>A uc010kiw.2 - 112 21249 c.20647C>T c.(20647-20649)CGC>TGC p.R6883C SYNE1_uc010kiv.2_Missense_Mutation_p.R1407C|SYNE1_uc003qos.3_Missense_Mutation_p.R1407C|SYNE1_uc003qot.3_Missense_Mutation_p.R6812C|SYNE1_uc003qou.3_Missense_Mutation_p.R6883C NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6883 Spectrin 21.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTATCAATGCGCGACAGCTCA 0.512 HNSCC(10;0.0054) PDE10A 10846 broad.mit.edu 37 6 165808689 165808689 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr6:165808689G>A uc003qun.2 - 16 1697 c.1456C>T c.(1456-1458)CGG>TGG p.R486W PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R416W|PDE10A_uc003quo.2_Missense_Mutation_p.R496W NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 486 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CCACAGGACCGATGAACCATG 0.383 SDK1 221935 broad.mit.edu 37 7 4050739 4050739 + Missense_Mutation SNP C A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:4050739C>A uc003smx.2 + 15 2412 c.2273C>A c.(2272-2274)ACA>AAA p.T758K SDK1_uc010kso.2_Missense_Mutation_p.T34K NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 758 Fibronectin type-III 1. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGCGCCGAGACAAGCAGGTGC 0.597 SDK1 221935 broad.mit.edu 37 7 4189057 4189057 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:4189057G>A uc003smx.2 + 30 4726 c.4587G>A c.(4585-4587)TCG>TCA p.S1529S SDK1_uc010kso.2_Silent_p.S805S|SDK1_uc003smy.2_Silent_p.S16S NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1529 Fibronectin type-III 9. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCTACTCCTCGTCCATCAGCC 0.682 FAM188B 84182 broad.mit.edu 37 7 30830978 30830978 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:30830978C>T uc003tbt.2 + 5 938 c.861C>T c.(859-861)GCC>GCT p.A287A FAM188B_uc010kwe.2_Silent_p.A258A NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 287 0 AAACCACTGCCAGCAGCCCTC 0.637 EGFR 1956 broad.mit.edu 37 7 55220329 55220329 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:55220329G>A uc003tqk.2 + 6 965 c.719G>A c.(718-720)TGC>TAC p.C240Y EGFR_uc003tqh.2_Missense_Mutation_p.C240Y|EGFR_uc003tqi.2_Missense_Mutation_p.C240Y|EGFR_uc003tqj.2_Missense_Mutation_p.C240Y|EGFR_uc010kzg.1_Missense_Mutation_p.C195Y|EGFR_uc011kco.1_Missense_Mutation_p.C187Y|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 240 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCTGCAGGCTGCACAGGCCCC 0.647 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PHKG1 5260 broad.mit.edu 37 7 56151084 56151084 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:56151084T>C uc003trz.1 - 6 629 c.434A>G c.(433-435)AAC>AGC p.N145S PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.N39S|PHKG1_uc011kdb.1_Missense_Mutation_p.N177S|PHKG1_uc011kdc.1_Missense_Mutation_p.N136S|PHKG1_uc011kdd.1_Missense_Mutation_p.N91S NM_006213 NP_006204 Q16816 PHKG1_HUMAN phosphorylase kinase gamma subunit 1 145 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity large_intestine(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTGCACGATGTTGAGTTTGTG 0.527 CALN1 83698 broad.mit.edu 37 7 71571179 71571179 + Silent SNP G A A rs139754746 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:71571179G>A uc003twa.3 - 3 746 c.219C>T c.(217-219)AGC>AGT p.S73S CALN1_uc003twb.3_Silent_p.S115S|CALN1_uc003twc.3_Silent_p.S73S NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 73 EF-hand 2.|Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) GCTCCACCTCGCTTGGCATGT 0.592 KCND2 3751 broad.mit.edu 37 7 119915031 119915031 + Silent SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:119915031C>T uc003vjj.1 + 1 1310 c.345C>T c.(343-345)TAC>TAT p.Y115Y NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 115 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TCTCTGCTTACGATGAAGAAC 0.542 CCDC136 64753 broad.mit.edu 37 7 128445464 128445464 + Silent SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:128445464G>A uc003vnv.1 + 6 1201 c.834G>A c.(832-834)ACG>ACA p.T278T CCDC136_uc003vnu.1_Silent_p.T316T|CCDC136_uc003vnw.1_Silent_p.T278T|CCDC136_uc003vnx.1_Silent_p.T94T|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_5'Flank NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 278 Glu-rich. integral to membrane protein binding ovary(2) 2 TGAGTATGACGTCAGCAGAGT 0.502 TRPV6 55503 broad.mit.edu 37 7 142570125 142570125 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr7:142570125C>T uc003wbx.1 - 14 2111 c.1895G>A c.(1894-1896)CGG>CAG p.R632Q TRPV6_uc003wbw.1_Missense_Mutation_p.R418Q|TRPV6_uc010lou.1_Missense_Mutation_p.R503Q NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 632 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) TATCACTCACCGCAGGAACCA 0.662 MSR1 4481 broad.mit.edu 37 8 16012638 16012638 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr8:16012638G>A uc003wwz.2 - 6 1031 c.833C>T c.(832-834)CCG>CTG p.P278L MSR1_uc010lsu.2_Missense_Mutation_p.P296L|MSR1_uc003wxa.2_Missense_Mutation_p.P278L|MSR1_uc003wxb.2_Missense_Mutation_p.P278L|MSR1_uc011kxz.1_Missense_Mutation_p.P52L NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 278 Collagen-like.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TTTTTCACCCGGGGGTCCAGG 0.398 PRDM14 63978 broad.mit.edu 37 8 70964463 70964463 + Missense_Mutation SNP C A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr8:70964463C>A uc003xym.2 - 8 1767 c.1565G>T c.(1564-1566)TGT>TTT p.C522F NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 522 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AGATTTACCACAGTACTTGCA 0.517 MTDH 92140 broad.mit.edu 37 8 98731338 98731338 + Missense_Mutation SNP G A A rs143317071 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr8:98731338G>A uc003yhz.2 + 10 1770 c.1442G>A c.(1441-1443)CGT>CAT p.R481H MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 481 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) TCTAAAACCCGTCCAAAACAG 0.333 WISP1 8840 broad.mit.edu 37 8 134239690 134239690 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr8:134239690G>A uc003yub.2 + 5 917 c.841G>A c.(841-843)GCA>ACA p.A281T WISP1_uc003yuc.2_Missense_Mutation_p.A194T|WISP1_uc010meb.2_Missense_Mutation_p.A109T|WISP1_uc010mec.2_Missense_Mutation_p.G129D|WISP1_uc010med.2_Missense_Mutation_p.A36T|WISP1_uc003yud.2_RNA NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 281 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCAGCCAGAGGCATCCATGAA 0.527 KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Missense_Mutation SNP T C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr9:2837296T>C uc003zhp.1 - 3 284 c.188A>G c.(187-189)AAG>AGG p.K63R KIAA0020_uc010mhc.1_Missense_Mutation_p.K62R|KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 63 endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388 FAM75C1 441452 broad.mit.edu 37 9 90536630 90536630 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr9:90536630G>A uc010mqi.2 + 4 1837 c.1808G>A c.(1807-1809)CGT>CAT p.R603H FAM75C1_uc004apq.3_Missense_Mutation_p.R586H NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 GTGAGTGTGCGTCGATCCTGG 0.512 BICD2 23299 broad.mit.edu 37 9 95481762 95481762 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr9:95481762G>A uc004aso.1 - 5 1222 c.1165C>T c.(1165-1167)CGC>TGC p.R389C BICD2_uc004asp.1_Missense_Mutation_p.R389C NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 389 Potential. microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 TCTGTGAGGCGGGTCACCTTC 0.647 SH2D3C 10044 broad.mit.edu 37 9 130507103 130507103 + Missense_Mutation SNP A G G TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr9:130507103A>G uc004bsc.2 - 7 1682 c.1540T>C c.(1540-1542)TCC>CCC p.S514P SH2D3C_uc010mxo.2_Missense_Mutation_p.S354P|SH2D3C_uc004bry.2_Missense_Mutation_p.S356P|SH2D3C_uc004brz.3_Missense_Mutation_p.S160P|SH2D3C_uc011mak.1_Missense_Mutation_p.S160P|SH2D3C_uc004bsa.2_Missense_Mutation_p.S357P|SH2D3C_uc004bsb.2_Missense_Mutation_p.S446P NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 514 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 TGCTGGCTGGAGGTCTCAGTC 0.622 NTNG2 84628 broad.mit.edu 37 9 135042315 135042315 + Missense_Mutation SNP A C C TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr9:135042315A>C uc004cbh.2 + 2 873 c.97A>C c.(97-99)ACC>CCC p.T33P NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 33 axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGAGGGCCCCACCTGGGAGTT 0.607 COL5A1 1289 broad.mit.edu 37 9 137716532 137716532 + Silent SNP C T T rs149981025 TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chr9:137716532C>T uc004cfe.2 + 62 5167 c.4785C>T c.(4783-4785)GAC>GAT p.D1595D uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1595 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGCTGGACGACGGGAATGGCG 0.627 KDM6A 7403 broad.mit.edu 37 X 44929255 44929255 + Missense_Mutation SNP G A A TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chrX:44929255G>A uc004dge.3 + 17 2730 c.2355G>A c.(2353-2355)ATG>ATA p.M785I KDM6A_uc010nhk.2_Missense_Mutation_p.M751I|KDM6A_uc011mkz.1_Missense_Mutation_p.M837I|KDM6A_uc011mla.1_Missense_Mutation_p.M740I|KDM6A_uc011mlb.1_Missense_Mutation_p.M792I|KDM6A_uc011mlc.1_Missense_Mutation_p.M489I|KDM6A_uc011mld.1_Missense_Mutation_p.M424I NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 785 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 CCTTGTTGATGGGAAAAGCCA 0.448 D|N|F|S renal|oesophageal SCC|MM IL1RAPL2 26280 broad.mit.edu 37 X 105011554 105011554 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chrX:105011554C>T uc004elz.1 + 11 2717 c.1961C>T c.(1960-1962)CCC>CTC p.P654L NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 654 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GGACAGCTACCCCTTAATAAC 0.448 MAGEC2 51438 broad.mit.edu 37 X 141290669 141290669 + Missense_Mutation SNP C T T TCGA-76-6656-01A-11D-1845-08 TCGA-76-6656-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx fe66f11a-e03d-49c5-befe-db74ef55ce61 fb2cda88-4b45-4173-8340-49f54a899bc7 g.chrX:141290669C>T uc004fbu.1 - 3 1453 c.1105G>A c.(1105-1107)GTC>ATC p.V369I NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 369 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GAAAAGGAGACGTTGCTGGAC 0.502 HNSCC(46;0.14)