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 ACHILLES_Top_Genes 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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut BMP8A 353500 broad.mit.edu 37 1 39957981 39957981 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:39957981G>C uc001cdi.2 + 1 664 c.318G>C c.(316-318)ATG>ATC p.M106I NM_181809 NP_861525 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8A precursor 106 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity 0 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACCTGGTCATGAGCTTCGTCA 0.711 NA 6 15 0 0 0.001984 0 0 HEYL 26508 broad.mit.edu 37 1 40092420 40092420 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:40092420C>T uc001cdp.2 - 5 797 c.746G>A c.(745-747)CGC>CAC p.R249H HEYL_uc010oiw.1_Missense_Mutation_p.R221H NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN hairy/enhancer-of-split related with YRPW 249 Pro-rich. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTCTAGGGGGCGGGCCCTCCG 0.692 NA 4 3 0 0 0.000602 0 0 C8A 731 broad.mit.edu 37 1 57349288 57349288 + Silent SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:57349288G>T uc001cyo.2 + 6 921 c.789G>T c.(787-789)GTG>GTT p.V263V NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 263 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CTTTATTGGTGGGTGTAGGTG 0.403 NA 19 54 3.62473e-10 4.03281e-10 0.012319 1 0 TGFBR3 7049 broad.mit.edu 37 1 92187533 92187533 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:92187533G>A uc001doh.2 - 8 1520 c.1054C>T c.(1054-1056)CAT>TAT p.H352Y TGFBR3_uc009wde.2_Missense_Mutation_p.H130Y|TGFBR3_uc010osy.1_Missense_Mutation_p.H310Y|TGFBR3_uc001doi.2_Missense_Mutation_p.H352Y|TGFBR3_uc001doj.2_Missense_Mutation_p.H352Y NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 352 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGCCGAAGATGAAATCTATTA 0.388 NA 4 39 0 0 0.009096 0 0 PYGO2 90780 broad.mit.edu 37 1 154931673 154931673 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:154931673G>A uc001fft.2 - 3 1009 c.803C>T c.(802-804)TCT>TTT p.S268F NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 268 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAAAGCAGTAGAAGCAGGTGG 0.647 NSCLC(87;357 1460 1955 21029 23522) NA 6 27 0 0 0.001984 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779054 156779054 + Missense_Mutation SNP C C T rs147765972 TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:156779054C>T uc001fqd.2 - 7 1083 c.943G>A c.(943-945)GCC>ACC p.A315T SH2D2A_uc001fqc.1_Missense_Mutation_p.A287T|SH2D2A_uc009wsh.2_Missense_Mutation_p.A325T|SH2D2A_uc001fqe.2_Missense_Mutation_p.A297T|SH2D2A_uc010phs.1_Missense_Mutation_p.A315T NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 315 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAAGGGTGGCGGGTAGGCCC 0.597 NA 119 418 0 0 0.01441 0 0 SPTA1 6708 broad.mit.edu 37 1 158590009 158590009 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:158590009G>T uc001fst.1 - 44 6567 c.6368C>A c.(6367-6369)ACA>AAA p.T2123K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2123 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CACCTCCACTGTTAACCAGGT 0.468 NA 85 98 2.22156e-40 3.08448e-40 0.01441 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161166644 161166644 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:161166644C>T uc001fyt.3 - 2 1088 c.660G>A c.(658-660)GTG>GTA p.V220V ADAMTS4_uc001fyu.2_Silent_p.V220V|NDUFS2_uc001fyv.2_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 220 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCAGTGTCTCCACAAATCTAC 0.537 NA 222 279 0 0 0.01441 0 0 SELP 6403 broad.mit.edu 37 1 169580746 169580746 + Silent SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:169580746G>T uc001ggi.3 - 7 1196 c.1131C>A c.(1129-1131)CCC>CCA p.P377P SELP_uc001ggh.2_Silent_p.P212P|SELP_uc009wvr.2_Silent_p.P377P NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 377 Sushi 3.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGGTTGGCAAGGGTGCAGACC 0.542 NA 33 155 2.46105e-21 3.0855e-21 0.010818 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526072 176526072 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:176526072G>C uc001gkz.2 + 2 1778 c.614G>C c.(613-615)CGG>CCG p.R205P PAPPA2_uc001gky.1_Missense_Mutation_p.R205P|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 205 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGGAAGAGGCGGGCGGAAGAT 0.562 NA 139 141 0 0 0.01441 0 0 CACNA1E 777 broad.mit.edu 37 1 181708376 181708376 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:181708376G>T uc001gow.2 + 25 3871 c.3706G>T c.(3706-3708)GCC>TCC p.A1236S CACNA1E_uc009wxs.2_Missense_Mutation_p.A1124S|CACNA1E_uc001gox.1_Missense_Mutation_p.A462S|CACNA1E_uc009wxt.2_Missense_Mutation_p.A462S NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1236 III.|Helical; Name=S3 of repeat III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CGCATTGGTGGCCTTTGCTCT 0.498 NA 146 184 2.23826e-62 3.13356e-62 0.01441 1 0 ZNF648 127665 broad.mit.edu 37 1 182026337 182026337 + Missense_Mutation SNP T T C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:182026337T>C uc001goz.2 - 2 1017 c.809A>G c.(808-810)GAG>GGG p.E270G NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCCGCGCGTCTCCGCGGGGCT 0.756 NSCLC(71;908 1374 5429 20458 35642) NA 2 13 0 0 0.009096 0 0 PTGS2 5743 broad.mit.edu 37 1 186643668 186643668 + Silent SNP G G A rs139087930 TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:186643668G>A uc001gsb.2 - 10 1769 c.1632C>T c.(1630-1632)ATC>ATT p.I544I PTGS2_uc009wyo.2_Silent_p.I391I NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 544 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) CAGTGTTGATGATTTGAAAAC 0.433 NA 46 152 0 0 0.011902 0 0 LRRN2 10446 broad.mit.edu 37 1 204589053 204589053 + Missense_Mutation SNP A A G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:204589053A>G uc001hbe.1 - 3 456 c.68T>C c.(67-69)GTA>GCA p.V23A MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.V23A|LRRN2_uc009xbf.1_Missense_Mutation_p.V23A|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 23 Extracellular (Potential).|LRRNT. cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) ATGCCAGGGTACCACGGGCAC 0.647 NA 15 25 0 0 0.003163 0 0 C1orf116 79098 broad.mit.edu 37 1 207200842 207200842 + Silent SNP T T A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:207200842T>A uc001hfd.2 - 2 361 c.102A>T c.(100-102)GGA>GGT p.G34G C1orf116_uc009xcb.1_Intron NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 34 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) TACGTACAGATCCAGAGCGGG 0.512 NA 39 157 0 0 0.005524 0 0 USH2A 7399 broad.mit.edu 37 1 215807951 215807951 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:215807951C>T uc001hku.1 - 70 15534 c.15147G>A c.(15145-15147)ATG>ATA p.M5049I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5049 Helical; (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAAGCCCAGCATCGCCATTA 0.463 NA HNSCC(13;0.011) 42 173 0 0 0.006999 0 0 HLX 3142 broad.mit.edu 37 1 221055574 221055574 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:221055574G>T uc001hmv.3 + 3 1298 c.841G>T c.(841-843)GCT>TCT p.A281S NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 281 Homeobox. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) ATGGTCGCGCGCTGTGTTCTC 0.577 NA 35 68 9.17885e-22 1.15943e-21 0.003271 1 0 FMN2 56776 broad.mit.edu 37 1 240421306 240421306 + Missense_Mutation SNP A A G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:240421306A>G uc010pyd.1 + 7 4352 c.4127A>G c.(4126-4128)CAT>CGT p.H1376R FMN2_uc010pye.1_Missense_Mutation_p.H1380R|FMN2_uc010pyf.1_Missense_Mutation_p.H22R|FMN2_uc010pyg.1_Intron NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1376 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCTAGCCTTCATTTAGATATG 0.323 NA 18 93 0 0 0.006122 0 0 OR2W3 343171 broad.mit.edu 37 1 248059823 248059823 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:248059823G>T uc001idp.1 + 3 1204 c.935G>T c.(934-936)GGA>GTA p.G312V OR2W3_uc010pzb.1_Missense_Mutation_p.G312V NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGAGAGCTAGGAAAGGAGTAA 0.537 NA 40 43 9.85521e-28 1.30368e-27 0.00623 1 0 OR2T4 127074 broad.mit.edu 37 1 248525231 248525231 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr1:248525231C>A uc001ieh.1 + 1 349 c.349C>A c.(349-351)CAG>AAG p.Q117K NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 117 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTCCTGGACCAGGTCATGGG 0.493 NA 202 205 1.51991e-96 2.16394e-96 0.01441 1 0 FAM188A 80013 broad.mit.edu 37 10 15902236 15902236 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:15902236G>A uc001iod.1 - 1 284 c.63C>T c.(61-63)CTC>CTT p.L21L FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.L21L NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 21 apoptosis nucleus calcium ion binding ovary(1) 1 TGGTGTCCGAGAGACCGGGGC 0.617 Pancreas(159;946 1953 2111 4475 22008) NA 4 22 0 0 0.009096 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430689 37430689 + Silent SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:37430689G>T uc001iza.1 + 7 795 c.696G>T c.(694-696)GCG>GCT p.A232A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 288 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CACCCTTGGCGGAAAGAACAC 0.428 NA 8 36 0.000978159 0.00100202 0.010729 1 0 TMEM72 643236 broad.mit.edu 37 10 45429161 45429161 + Missense_Mutation SNP T T A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:45429161T>A uc001jbn.2 + 4 483 c.286T>A c.(286-288)TAC>AAC p.Y96N uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_5'UTR NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 96 Helical; (Potential). integral to membrane 0 GTTCCTGGCCTACCTGCTGCT 0.617 NA 17 59 0 0 0.004007 0 0 PCDH15 65217 broad.mit.edu 37 10 55996691 55996691 + Nonsense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:55996691C>A uc001jju.1 - 9 1272 c.877G>T c.(877-879)GAA>TAA p.E293* PCDH15_uc010qhq.1_Nonsense_Mutation_p.E298*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.E298*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.E293*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.E271*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E256*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.E298*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E293*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E271*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E271*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.E293* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 293 Cadherin 3.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTCAGTTCTTCCTGAAAAAAA 0.398 NA HNSCC(58;0.16) 37 90 4.65686e-17 5.66923e-17 0.003755 1 0 ANK3 288 broad.mit.edu 37 10 61844435 61844435 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:61844435C>T uc001jky.2 - 32 4191 c.3999G>A c.(3997-3999)ATG>ATA p.M1333I ANK3_uc001jkw.2_Missense_Mutation_p.M467I|ANK3_uc009xpa.2_Missense_Mutation_p.M467I|ANK3_uc001jkx.2_Missense_Mutation_p.M511I|ANK3_uc010qih.1_Missense_Mutation_p.M1334I|ANK3_uc001jkz.3_Missense_Mutation_p.M1327I|ANK3_uc001jla.1_Missense_Mutation_p.M399I|ANK3_uc001jlb.1_Missense_Mutation_p.M851I|ANK3_uc001jkv.2_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1333 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGTCATCTGTCATGCAGAAAC 0.373 NA 9 156 0 0 0.004482 0 0 DYDC2 84332 broad.mit.edu 37 10 82126540 82126540 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:82126540C>G uc001kca.1 + 5 747 c.367C>G c.(367-369)CCA>GCA p.P123A DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.P123A NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 123 protein binding 0 Colorectal(32;0.229) GGAATTCCTGCCAGGTACTTC 0.468 NA 50 130 0 0 0.01441 0 0 CYP17A1 1586 broad.mit.edu 37 10 104594740 104594740 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr10:104594740C>A uc001kwg.2 - 3 640 c.468G>T c.(466-468)ATG>ATT p.M156I NM_000102 NP_000093 P05093 CP17A_HUMAN cytochrome P450, family 17 156 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity 0 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GGGTGGCCAGCATATCACACA 0.502 NA OREG0020487 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 123 2.87052e-16 3.44462e-16 0.005524 1 0 MUC6 4588 broad.mit.edu 37 11 1018143 1018143 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:1018143C>T uc001lsw.2 - 31 4709 c.4658G>A c.(4657-4659)CGC>CAC p.R1553H NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1553 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTTCTGGTGCGTGTACTAGT 0.562 NA 75 256 0 0 0.01441 0 0 CARS 833 broad.mit.edu 37 11 3041474 3041474 + Silent SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:3041474C>A uc001lxh.2 - 10 1067 c.993G>T c.(991-993)CCG>CCT p.P331P CARS_uc001lxe.2_Silent_p.P321P|CARS_uc001lxf.2_Silent_p.P414P|CARS_uc001lxg.2_Silent_p.P331P|CARS_uc010qxo.1_Silent_p.P414P|CARS_uc010qxp.1_Silent_p.P344P NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 331 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) ACGGCCAGGACGGTTCTCCGG 0.622 Ovarian(61;932 1157 5961 20446 52152) NA T ALK ALCL 47 178 2.47907e-22 3.15517e-22 0.01441 1 0 OR52I1 390037 broad.mit.edu 37 11 4615507 4615507 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:4615507C>T uc010qyi.1 + 1 239 c.239C>T c.(238-240)TCC>TTC p.S80F NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGCCTCCTCCGTGGTACCC 0.502 NA 58 144 0 0 0.01441 0 0 OR52N4 390072 broad.mit.edu 37 11 5776193 5776193 + Missense_Mutation SNP A A T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:5776193A>T uc001mbu.2 + 1 271 c.223A>T c.(223-225)ATG>TTG p.M75L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 75 Helical; Name=2; (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;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TGACCTTGTTATGTGCTCTAG 0.458 NA 34 60 0 0 0.003271 0 0 NLRP14 338323 broad.mit.edu 37 11 7064233 7064233 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:7064233G>C uc001mfb.1 + 4 1299 c.976G>C c.(976-978)GAG>CAG p.E326Q NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 326 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CCATTATGTAGAGCTACTAGG 0.403 NA 27 121 0 0 0.009535 0 0 OR5B3 441608 broad.mit.edu 37 11 58170746 58170746 + Nonsense_Mutation SNP A A T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:58170746A>T uc010rkf.1 - 1 137 c.137T>A c.(136-138)TTG>TAG p.L46* NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 46 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCAGAATATCAATACAATAAT 0.423 NA 45 96 0 0 0.009718 0 0 JRKL 8690 broad.mit.edu 37 11 96124962 96124962 + Missense_Mutation SNP A A C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:96124962A>C uc009ywu.2 + 2 1401 c.1149A>C c.(1147-1149)AGA>AGC p.R383S CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.R383S NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 383 DDE. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) CCATTAGCAGAGCATGGAAGA 0.408 NA 7 167 0 0 0.00308 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110007729 110007729 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:110007729C>T uc009yxw.2 + 2 414 c.363C>T c.(361-363)TGC>TGT p.C121C ZC3H12C_uc010rwc.1_Silent_p.C122C|ZC3H12C_uc010rwd.1_Silent_p.C122C|ZC3H12C_uc001pkr.3_Silent_p.C90C|ZC3H12C_uc001pkq.2_Silent_p.C90C NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 121 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GACAGCTCTGCAGGTCTCCCT 0.428 NA 10 27 0 0 0.008291 0 0 ABCG4 64137 broad.mit.edu 37 11 119024780 119024780 + Silent SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:119024780C>A uc001pvs.2 + 3 619 c.283C>A c.(283-285)CGG>AGG p.R95R ABCG4_uc009zar.2_Silent_p.R95R|ABCG4_uc001pvt.1_RNA NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 95 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) ATTCTGCCGCCGGGAGCTGAT 0.532 NA 41 109 1.96642e-18 2.4471e-18 0.006999 1 0 OR10G9 219870 broad.mit.edu 37 11 123894107 123894107 + Missense_Mutation SNP A A T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:123894107A>T uc010sad.1 + 1 388 c.388A>T c.(388-390)AGG>TGG p.R130W NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTACCCGCTCAGGTACACCAG 0.537 NA 71 122 0 0 0.01441 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 25 1.12685e-05 1.2058e-05 0.004482 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43777759 43777759 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr12:43777759C>T uc010skx.1 - 30 4474 c.4474G>A c.(4474-4476)GGA>AGA p.G1492R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1492 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGCTGAACTCCAGAGCCACAG 0.438 NA 16 41 0 0 0.006122 0 0 ARID2 196528 broad.mit.edu 37 12 46244361 46244361 + Nonsense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr12:46244361C>T uc001ros.1 + 15 2455 c.2455C>T c.(2455-2457)CAA>TAA p.Q819* ARID2_uc001ror.2_Nonsense_Mutation_p.Q819*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q275*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q446*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q153* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 819 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCACAGGGTCAACAGTTAAT 0.453 NA 18 28 0 0 0.006122 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54109766 54109766 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr12:54109766C>T uc001sef.2 - 9 1215 c.1071G>A c.(1069-1071)CAG>CAA p.Q357Q CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Silent_p.Q272Q|CALCOCO1_uc010son.1_Silent_p.Q234Q|CALCOCO1_uc001seh.2_Silent_p.Q357Q|CALCOCO1_uc009znd.2_Silent_p.Q357Q|CALCOCO1_uc001seg.2_Silent_p.Q182Q|CALCOCO1_uc010soo.1_Silent_p.Q350Q NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 357 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 GGGTGGCTTTCTGCTGGCTTG 0.612 NA 29 28 0 0 0.003271 0 0 HSD17B6 8630 broad.mit.edu 37 12 57178691 57178691 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr12:57178691C>G uc001smg.1 + 4 737 c.627C>G c.(625-627)TTC>TTG p.F209L NM_003725 NP_003716 O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 209 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity upper_aerodigestive_tract(1)|pancreas(1) 2 Succinic acid(DB00139) CTGGCTACTTCAGAACGGGAA 0.423 NA 68 138 0 0 0.01441 0 0 MIPEP 4285 broad.mit.edu 37 13 24444289 24444289 + Missense_Mutation SNP T T C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr13:24444289T>C uc001uox.3 - 6 749 c.649A>G c.(649-651)AGT>GGT p.S217G NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 217 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) AGAAATGTACTACTCAAATCC 0.363 NA 20 41 0 0 0.008871 0 0 ATP8A2 51761 broad.mit.edu 37 13 26129181 26129181 + Nonsense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr13:26129181C>A uc001uqk.2 + 13 1380 c.1238C>A c.(1237-1239)TCA>TAA p.S413* ATP8A2_uc010tdi.1_Nonsense_Mutation_p.S373*|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Nonsense_Mutation_p.S373* NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 373 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GCCAGGACATCAAACCTTAAT 0.428 NA 36 78 1.59361e-14 1.84639e-14 0.006999 1 0 AKAP11 11215 broad.mit.edu 37 13 42876365 42876365 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr13:42876365G>T uc001uys.1 + 8 3658 c.3483G>T c.(3481-3483)GAG>GAT p.E1161D NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1161 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AAAAAGAAGAGTTCATGTTGA 0.428 NA 33 77 7.63505e-26 1.0021e-25 0.012213 1 0 DCT 1638 broad.mit.edu 37 13 95114416 95114416 + Silent SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr13:95114416G>T uc001vlv.3 - 5 1318 c.891C>A c.(889-891)ACC>ACA p.T297T DCT_uc010afh.2_Silent_p.T297T NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 297 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) CATTGCACAAGGTGACCAGGT 0.299 NA 13 63 4.36969e-10 4.82966e-10 0.001855 1 0 MYO16 23026 broad.mit.edu 37 13 109777480 109777480 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr13:109777480C>A uc001vqt.1 + 30 3616 c.3490C>A c.(3490-3492)CGC>AGC p.R1164S MYO16_uc010agk.1_Missense_Mutation_p.R1186S|MYO16_uc010tjh.1_Missense_Mutation_p.R676S NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1164 IQ. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATTTTTAGCACGCCAGCACCT 0.393 NA 10 38 3.86212e-05 4.08073e-05 0.008291 1 0 ADPRHL1 113622 broad.mit.edu 37 13 114107634 114107634 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr13:114107634G>A uc001vtq.1 - 1 206 c.119C>T c.(118-120)TCC>TTC p.S40F NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 40 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CAGGCCCCCGGAACGTTGCAG 0.597 NA 23 106 0 0 0.00333 0 0 KIF26A 26153 broad.mit.edu 37 14 104642378 104642378 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr14:104642378G>T uc001yos.3 + 12 3253 c.3253G>T c.(3253-3255)GCC>TCC p.A1085S NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 1085 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TGAGTTTGACGCCTACACCTC 0.672 NA 5 11 0.000602214 0.000620687 0.000602 1 0 ZNF770 54989 broad.mit.edu 37 15 35274098 35274098 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:35274098C>T uc001ziw.2 - 3 1849 c.1538G>A c.(1537-1539)AGA>AAA p.R513K NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 513 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) AGCTGACTGTCTAAAAGATTT 0.348 NA 21 54 0 0 0.010504 0 0 ZNF770 54989 broad.mit.edu 37 15 35274816 35274816 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:35274816C>T uc001ziw.2 - 3 1131 c.820G>A c.(820-822)GAG>AAG p.E274K NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TCACCAATCTCACCATTTTCA 0.388 NA 10 48 0 0 0.006214 0 0 CASC5 57082 broad.mit.edu 37 15 40917230 40917231 + Missense_Mutation DNP GG GG TT TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:40917230_40917231GG>TT uc010bbs.1 + 11 5007_5008 c.4846_4847GG>TT c.(4846-4848)GGA>TTA p.G1616L CASC5_uc010ucq.1_Missense_Mutation_p.G1440L|CASC5_uc001zme.2_Missense_Mutation_p.G1590L|CASC5_uc010bbt.1_Missense_Mutation_p.G1590L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 1616 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ACTTGAATTAGGAAATAAGGCA 0.332 NA 15 63 0 0 0.004672 0 0 SPPL2A 84888 broad.mit.edu 37 15 51032016 51032016 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:51032016C>T uc001zyv.2 - 6 774 c.594G>A c.(592-594)TTG>TTA p.L198L NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 198 integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) TCACTGCTTTCAAGTTTTCCC 0.323 Melanoma(50;790 1209 4069 22965 33125) NA 9 29 0 0 0.006214 0 0 TLN2 83660 broad.mit.edu 37 15 63063322 63063322 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:63063322G>A uc002alb.3 + 39 5356 c.5356G>A c.(5356-5358)GGA>AGA p.G1786R TLN2_uc002alc.3_Missense_Mutation_p.G179R|TLN2_uc002ald.2_Missense_Mutation_p.G179R NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1786 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AGAAGGTGGCGGAAACCCCAA 0.507 NA 3 101 0 0 0.004672 0 0 BNC1 646 broad.mit.edu 37 15 83932641 83932641 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:83932641G>A uc002bjt.1 - 4 1450 c.1362C>T c.(1360-1362)CCC>CCT p.P454P BNC1_uc010uos.1_Silent_p.P442P NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 454 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CAGGGTAGCTGGGAGGAGGCC 0.547 NA 40 100 0 0 0.004878 0 0 DCI 1632 broad.mit.edu 37 16 2293439 2293439 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr16:2293439C>T uc002cpr.2 - 5 479 c.443G>A c.(442-444)GGA>GAA p.G148E DCI_uc002cps.2_Missense_Mutation_p.G148E NM_001919 NP_001910 P42126 ECI1_HUMAN dodecenoyl-Coenzyme A delta isomerase precursor 148 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity 0 GGGGCAGGCTCCCTGCAGGGA 0.652 NA 26 100 0 0 0.008361 0 0 C16orf90 646174 broad.mit.edu 37 16 3544576 3544576 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr16:3544576G>A uc002cvi.2 - 2 348 c.348C>T c.(346-348)CTC>CTT p.L116L NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN hypothetical protein LOC646174 106 0 GGGCTGAACAGAGGCTGTTAC 0.672 NA 14 40 0 0 0.014323 0 0 XYLT1 64131 broad.mit.edu 37 16 17202725 17202725 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr16:17202725C>G uc002dfa.2 - 12 2792 c.2707G>C c.(2707-2709)GAG>CAG p.E903Q NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 903 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 AGCCATCCCTCCAGCGCTGTG 0.667 NA 24 99 0 0 0.00632 0 0 TAOK2 9344 broad.mit.edu 37 16 29997963 29997963 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr16:29997963C>T uc002dva.1 + 16 3153 c.2370C>T c.(2368-2370)GGC>GGT p.G790G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.G797G|TAOK2_uc002dvd.1_Silent_p.G617G NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 790 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GAATGCTTGGCGAGGAGGAGG 0.597 NA 55 146 0 0 0.01441 0 0 SALL1 6299 broad.mit.edu 37 16 51173710 51173710 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr16:51173710G>T uc010vgs.1 - 2 2454 c.2423C>A c.(2422-2424)TCT>TAT p.S808Y SALL1_uc010vgr.1_Missense_Mutation_p.S711Y|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 808 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACCTGTGTCAGACTCCATGGA 0.507 GBM(103;1352 1446 1855 4775 8890) NA 58 162 1.0442e-30 1.41472e-30 0.01441 1 0 COX4I1 1327 broad.mit.edu 37 16 85838571 85838571 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr16:85838571G>A uc002fje.2 + 3 266 c.102G>A c.(100-102)TCG>TCA p.S34S COX4I1_uc002fjf.2_Silent_p.S34S|COX4I1_uc002fjg.1_Silent_p.S34S|COX4I1_uc010vom.1_5'UTR NM_001861 NP_001852 P13073 COX41_HUMAN cytochrome c oxidase subunit IV isoform 1 34 respiratory electron transport chain mitochondrial inner membrane|nucleus cytochrome-c oxidase activity|protein binding lung(1) 1 Renal(780;0.228) AAGACTTTTCGCTCCCAGCTT 0.473 NA 29 65 0 0 0.006999 0 0 VPS53 55275 broad.mit.edu 37 17 534814 534814 + Missense_Mutation SNP T T A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr17:534814T>A uc002frn.2 - 8 810 c.663A>T c.(661-663)GAA>GAT p.E221D VPS53_uc002frk.2_Translation_Start_Site|VPS53_uc010cjo.1_Missense_Mutation_p.E221D|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E192D|VPS53_uc002fro.2_Missense_Mutation_p.E23D|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 221 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) AAGGAAACGCTTCTTCAAAAT 0.498 NA 30 74 0 0 0.013726 0 0 SLFN12 55106 broad.mit.edu 37 17 33749265 33749265 + Missense_Mutation SNP T T A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr17:33749265T>A uc002hji.3 - 2 1160 c.783A>T c.(781-783)GAA>GAT p.E261D SLFN12_uc002hjj.3_Missense_Mutation_p.E261D|SLFN12_uc010cts.2_Missense_Mutation_p.E261D NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 261 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGATTTCTCTTTCTAAGTCAT 0.338 NA 29 73 0 0 0.013726 0 0 MED1 5469 broad.mit.edu 37 17 37564758 37564758 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr17:37564758G>A uc002hrv.3 - 17 3928 c.3716C>T c.(3715-3717)TCA>TTA p.S1239L MED1_uc010wee.1_Missense_Mutation_p.S1067L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1239 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GCCAGAGCTTGAACTAGTTCC 0.502 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 37 79 0 0 0.003755 0 0 TMEM99 147184 broad.mit.edu 37 17 38991095 38991095 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr17:38991095C>T uc002hvj.1 + 3 634 c.327C>T c.(325-327)TTC>TTT p.F109F NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 109 Helical; (Potential). integral to membrane skin(1) 1 Breast(137;0.000301) GGTTGCTCTTCAACAACTGGA 0.493 NA 54 106 0 0 0.01441 0 0 MMD 23531 broad.mit.edu 37 17 53485149 53485149 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr17:53485149C>G uc002iui.2 - 4 587 c.302G>C c.(301-303)AGA>ACA p.R101T NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 101 Cytoplasmic (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 GATAACCATTCTATCACACAT 0.383 NA 5 69 0 0 0.001984 0 0 C17orf70 80233 broad.mit.edu 37 17 79517503 79517503 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr17:79517503C>T uc002kaq.2 - 3 1072 c.1017G>A c.(1015-1017)CGG>CGA p.R339R C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.R188R NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 339 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GGCAGTACTCCCGCAGCTCGG 0.657 NA 32 73 0 0 0.005524 0 0 RAB31 11031 broad.mit.edu 37 18 9814045 9814045 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr18:9814045G>A uc002kog.2 + 4 405 c.230G>A c.(229-231)CGA>CAA p.R77Q NM_006868 NP_006859 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 76 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity p.R77*(1) skin(1) 1 ATGTACTATCGAGGCTCAGCT 0.378 NA 5 5 0 0 0.001168 0 0 STK11 6794 broad.mit.edu 37 19 1220717 1220717 + Splice_Site SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:1220717G>T uc002lrl.1 + 5 1849 c.734_splice c.e5+1 p.L245_splice NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(4) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTCACCCTGTAAGTGCCCC 0.711 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 25 19 9.39395e-14 1.08095e-13 0.00632 1 0 PLIN4 729359 broad.mit.edu 37 19 4512261 4512261 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:4512261C>G uc002mar.1 - 3 1669 c.1669G>C c.(1669-1671)GGG>CGG p.G557R PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 557 27 X 33 AA approximate tandem repeat.|15. lipid particle|plasma membrane 0 CCCGTGAGCCCAGTGGACATC 0.612 NA 89 193 0 0 0.01441 0 0 OR1M1 125963 broad.mit.edu 37 19 9203982 9203982 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:9203982C>A uc010xkj.1 + 1 62 c.62C>A c.(61-63)CCA>CAA p.P21Q NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 TCAGAAAAGCCAGAGCAGGAG 0.507 NA 53 23 2.47907e-22 3.15517e-22 0.01441 1 0 KEAP1 9817 broad.mit.edu 37 19 10600510 10600510 + Nonsense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:10600510C>A uc002moq.1 - 4 1501 c.1345G>T c.(1345-1347)GAG>TAG p.E449* KEAP1_uc002mop.1_Nonsense_Mutation_p.E167*|KEAP1_uc002mor.1_Nonsense_Mutation_p.E449* NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 449 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AAGTGCCACTCATCCCGCTCT 0.537 NA 18 14 9.7654e-05 0.0001019 0.007413 1 0 S1PR5 53637 broad.mit.edu 37 19 10624671 10624671 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:10624671C>T uc002mot.1 - 2 1074 c.1017G>A c.(1015-1017)GCG>GCA p.A339A S1PR5_uc002mou.1_Silent_p.A339A NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 339 Cytoplasmic (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 CAGCCGCGCTCGCCGACTGCT 0.746 NA 11 2 0 0 0.004007 0 0 PSG3 5671 broad.mit.edu 37 19 43236960 43236960 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:43236960C>T uc002oue.2 - 3 817 c.685G>A c.(685-687)GAC>AAC p.D229N PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.D251N NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 229 Ig-like C2-type 1. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) GTGACTGGGTCACTGCGGCTG 0.527 NA 103 434 0 0 0.01441 0 0 NLRP5 126206 broad.mit.edu 37 19 56539676 56539676 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:56539676G>A uc002qmj.2 + 7 2077 c.2077G>A c.(2077-2079)GAG>AAG p.E693K NLRP5_uc002qmi.2_Missense_Mutation_p.E674K NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 693 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGTCTTTTCGAGACTCAAGA 0.517 NA 83 159 0 0 0.01441 0 0 ZNF304 57343 broad.mit.edu 37 19 57868090 57868090 + Nonsense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr19:57868090G>T uc010ygw.1 + 3 1241 c.853G>T c.(853-855)GGA>TGA p.G285* ZNF304_uc010etw.2_Nonsense_Mutation_p.G332*|ZNF304_uc010etx.2_Nonsense_Mutation_p.G243* NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 285 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TAAGGAGTGTGGAAAAGCCTT 0.418 NA 23 64 2.32416e-17 2.85006e-17 0.014323 1 0 GREB1 9687 broad.mit.edu 37 2 11720872 11720872 + Missense_Mutation SNP C C T rs148901217 TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:11720872C>T uc002rbk.1 + 7 1115 c.815C>T c.(814-816)CCG>CTG p.P272L GREB1_uc002rbl.2_Missense_Mutation_p.P272L|GREB1_uc002rbm.2_Missense_Mutation_p.P162L|GREB1_uc002rbn.1_Missense_Mutation_p.P272L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 272 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCAATGGGTCCGGCTGTTTTC 0.532 Ovarian(39;850 945 2785 23371 33093) NA 52 104 0 0 0.01441 0 0 DNMT3A 1788 broad.mit.edu 37 2 25459873 25459873 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:25459873G>A uc002rgc.2 - 21 2667 c.2410C>T c.(2410-2412)CCG>TCG p.P804S DNMT3A_uc002rgd.2_Missense_Mutation_p.P804S|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.P615S NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 804 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGCCAACGGCCTAGGAGGC 0.582 NA Mis|F|N|S AML 13 29 0 0 0.001855 0 0 REG1B 5968 broad.mit.edu 37 2 79314691 79314691 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:79314691G>C uc002sny.2 - 2 160 c.48C>G c.(46-48)TTC>TTG p.F16L REG1B_uc010ffv.1_Missense_Mutation_p.F16L|REG1B_uc010ffw.2_Missense_Mutation_p.F16L NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 16 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TCAGAGACAGGAACATCAGGG 0.473 NA 13 44 0 0 0.001855 0 0 IL1R2 7850 broad.mit.edu 37 2 102641036 102641036 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:102641036G>A uc002tbm.2 + 7 1022 c.793G>A c.(793-795)GGC>AGC p.G265S IL1R2_uc002tbn.2_Missense_Mutation_p.G265S|IL1R2_uc002tbo.1_Missense_Mutation_p.G265S NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 265 Extracellular (Potential).|Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) TCTGGGAACCGGCACACCCTT 0.607 Pancreas(106;189 1628 2302 5133 12295) NA 27 58 0 0 0.005443 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881397 108881397 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:108881397G>T uc010ywo.1 + 6 738 c.738G>T c.(736-738)ATG>ATT p.M246I NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 246 cytoplasm alcohol sulfotransferase activity skin(1) 1 AAAACCCAATGACCAACTATA 0.383 NA 40 85 6.48837e-15 7.6227e-15 0.010771 1 0 RGPD5 84220 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:113127775G>C uc002ths.1 - 23 5355 c.5278C>G c.(5278-5280)CCT>GCT p.P1760A RGPD8_uc010fkk.1_Missense_Mutation_p.P1620A NM_005054 NP_005045 Q99666 RGPD5_HUMAN RANBP2-like and GRIP domain containing 5 isoform 1760 intracellular transport cytoplasm binding 0 GAACGGGAAGGATTTTCTTCC 0.308 NA 5 56 0 0 0.000602 0 0 DPP10 57628 broad.mit.edu 37 2 116497337 116497337 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:116497337C>G uc002tla.1 + 9 1177 c.720C>G c.(718-720)ATC>ATG p.I240M DPP10_uc002tlb.1_Missense_Mutation_p.I190M|DPP10_uc002tlc.1_Missense_Mutation_p.I236M|DPP10_uc002tle.2_Missense_Mutation_p.I244M|DPP10_uc002tlf.1_Missense_Mutation_p.I233M NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 240 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATTCTCACATCGCCCACTGGT 0.463 NA 38 86 0 0 0.004878 0 0 FAM123C 205147 broad.mit.edu 37 2 131519842 131519842 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:131519842C>A uc002trw.2 + 2 387 c.197C>A c.(196-198)CCC>CAC p.P66H FAM123C_uc010fmv.2_Missense_Mutation_p.P66H|FAM123C_uc010fms.1_Missense_Mutation_p.P66H|FAM123C_uc010fmt.1_Missense_Mutation_p.P66H|FAM123C_uc010fmu.1_Missense_Mutation_p.P66H NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 66 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GACAGATGCCCCAACAAAGGG 0.632 NA 3 7 6.4e-05 6.72e-05 0.004672 1 0 LRP1B 53353 broad.mit.edu 37 2 141055419 141055419 + Missense_Mutation SNP A A T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:141055419A>T uc002tvj.1 - 84 13897 c.12925T>A c.(12925-12927)TGC>AGC p.C4309S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4309 Extracellular (Potential).|EGF-like 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGCAGTGGCAGTAAGGCTGG 0.468 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 83 237 0 0 0.01441 0 0 LRP1B 53353 broad.mit.edu 37 2 141946049 141946049 + Silent SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:141946049G>T uc002tvj.1 - 7 1926 c.954C>A c.(952-954)GTC>GTA p.V318V LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 318 Extracellular (Potential).|LDL-receptor class B 2. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAATCAGGGTGACACATACAG 0.413 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 22 40 1.28384e-07 1.39152e-07 0.012319 1 0 TTN 7273 broad.mit.edu 37 2 179407873 179407873 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:179407873C>T uc010zfg.1 - 296 89347 c.89123G>A c.(89122-89124)AGA>AAA p.R29708K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R23403K|TTN_uc010zfi.1_Missense_Mutation_p.R23336K|TTN_uc010zfj.1_Missense_Mutation_p.R23211K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30635 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCCTTATTCTAAATAAGTA 0.418 NA 55 216 0 0 0.01441 0 0 FARSB 10056 broad.mit.edu 37 2 223489197 223489197 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:223489197C>G uc002vne.1 - 12 999 c.964G>C c.(964-966)GAA>CAA p.E322Q FARSB_uc010zlq.1_Missense_Mutation_p.E342Q|FARSB_uc002vnf.1_Missense_Mutation_p.E223Q NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 322 B5. phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TCTGGAGTTTCTCTGAAAAAG 0.343 NA 12 23 0 0 0.010729 0 0 NEU2 4759 broad.mit.edu 37 2 233897387 233897387 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:233897387G>A uc010zmn.1 + 1 6 c.6G>A c.(4-6)GCG>GCA p.A2A NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 2 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GCCCCATGGCGTCCCTTCCTG 0.617 NA 65 151 0 0 0.01441 0 0 ANO7 50636 broad.mit.edu 37 2 242141661 242141661 + Missense_Mutation SNP T T C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr2:242141661T>C uc002wax.2 + 8 930 c.827T>C c.(826-828)CTT>CCT p.L276P NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 276 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 AAAAACCTGCTTGGGATCCAC 0.612 NA 34 85 0 0 0.00623 0 0 PROKR2 128674 broad.mit.edu 37 20 5283318 5283318 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr20:5283318C>A uc010zqw.1 - 2 523 c.523G>T c.(523-525)GCC>TCC p.A175S PROKR2_uc010zqx.1_Missense_Mutation_p.A175S|PROKR2_uc010zqy.1_Missense_Mutation_p.A175S NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 175 Helical; Name=4; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 CAGACCAAGGCGATCAGGAAG 0.493 NA HNSCC(71;0.22) 47 152 4.86159e-25 6.33138e-25 0.01441 1 0 TMEM90B 79953 broad.mit.edu 37 20 24524025 24524025 + Missense_Mutation SNP G G A rs139628724 byFrequency TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr20:24524025G>A uc002wtw.1 + 2 925 c.292G>A c.(292-294)GTG>ATG p.V98M NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 98 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 TTCAGAGGGCGTGCTGCGCTC 0.652 NA 58 112 0 0 0.01441 0 0 DEFB116 245930 broad.mit.edu 37 20 29891023 29891023 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr20:29891023G>T uc010ztm.1 - 2 301 c.301C>A c.(301-303)CAC>AAC p.H101N NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN beta-defensin 116 precursor 101 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATTCAAATGTGAGAGTAGCTT 0.378 NA 31 100 1.62565e-12 1.85788e-12 0.012213 1 0 SLC32A1 140679 broad.mit.edu 37 20 37356981 37356981 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr20:37356981G>T uc002xjc.2 + 2 1540 c.1277G>T c.(1276-1278)GGG>GTG p.G426V NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 426 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) AGCGGCGACGGGCGCCTGAAG 0.642 NA 15 40 2.39187e-15 2.82982e-15 0.008871 1 0 COL9A3 1299 broad.mit.edu 37 20 61460132 61460132 + Missense_Mutation SNP A A T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr20:61460132A>T uc002ydm.2 + 18 920 c.917A>T c.(916-918)GAC>GTC p.D306V NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 306 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) CCGGGCAAGGACGGCCAGAAT 0.692 NA 18 43 0 0 0.008871 0 0 EEF1A2 1917 broad.mit.edu 37 20 62121879 62121879 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr20:62121879C>T uc002yfd.1 - 5 1083 c.982G>A c.(982-984)GAC>AAC p.D328N EEF1A2_uc002yfe.1_Missense_Mutation_p.D328N|EEF1A2_uc010gkg.1_Missense_Mutation_p.D328N NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 328 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GACTTGCTGTCCCCACACACG 0.667 NA 25 55 0 0 0.005443 0 0 CECR2 27443 broad.mit.edu 37 22 17983959 17983959 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr22:17983959C>T uc010gqw.1 + 6 781 c.655C>T c.(655-657)CGC>TGC p.R219C CECR2_uc010gqv.1_Missense_Mutation_p.R98C|CECR2_uc002zml.2_Missense_Mutation_p.R98C|CECR2_uc002zmm.1_Missense_Mutation_p.R98C NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 261 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CGAGAGTTTTCGCGAGAGGAC 0.562 NA 36 126 0 0 0.00623 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39425483 39425483 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr22:39425483C>A uc011aoe.1 + 5 775 c.721C>A c.(721-723)CAC>AAC p.H241N APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Missense_Mutation_p.H241N|APOBEC3D_uc010gxu.2_Missense_Mutation_p.H37N NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 241 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) TACAAAGCACCACTCAGCTGT 0.478 NA 4 83 0.00909568 0.00926106 0.009096 1 0 CHKB 1120 broad.mit.edu 37 22 51018161 51018161 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr22:51018161G>A uc003bms.2 - 9 1244 c.1026C>T c.(1024-1026)GTC>GTT p.V342V CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.V133V|CHKB-CPT1B_uc003bmu.2_Silent_p.V221V|CHKB_uc003bmv.2_Silent_p.V342V NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 342 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CTCACCGACTGACTTCTACCA 0.522 NA 42 113 0 0 0.00874 0 0 XYLB 9942 broad.mit.edu 37 3 38454427 38454427 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr3:38454427G>T uc003cic.2 + 19 1643 c.1534G>T c.(1534-1536)GTC>TTC p.V512F XYLB_uc011ayp.1_Missense_Mutation_p.V375F NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 512 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GCCCTTCTAGGTCTACGAGGC 0.498 NA 42 107 7.53189e-24 9.73352e-24 0.007835 1 0 TMF1 7110 broad.mit.edu 37 3 69101202 69101202 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr3:69101202G>A uc003dnn.2 - 1 283 c.36C>T c.(34-36)TTC>TTT p.F12F TMF1_uc011bfx.1_Silent_p.F12F NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 12 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CCTGCTTAGCGAAGCTGGAGA 0.637 NA 17 196 0 0 0.012319 0 0 ACPP 55 broad.mit.edu 37 3 132075715 132075715 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr3:132075715C>T uc010htp.2 + 10 1244 c.1154C>T c.(1153-1155)ACA>ATA p.T385I ACPP_uc003eon.3_Missense_Mutation_p.T352I|ACPP_uc003eop.3_Intron NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 385 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 GAAGACAGTACAGATTAGTGT 0.502 NA 30 65 0 0 0.009535 0 0 KY 339855 broad.mit.edu 37 3 134322838 134322838 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr3:134322838C>T uc010hty.2 - 11 1631 c.1569G>A c.(1567-1569)CTG>CTA p.L523L KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.L502L NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 523 cytoskeleton|Z disc peptidase activity ovary(2) 2 GCTGGACTTTCAGCTCGGTCT 0.527 NA 18 67 0 0 0.012319 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051323 38051323 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr4:38051323G>A uc003gtb.2 + 11 2057 c.1714G>A c.(1714-1716)GAC>AAC p.D572N TBC1D1_uc011byd.1_Missense_Mutation_p.D572N|TBC1D1_uc010ifd.2_Missense_Mutation_p.D319N|TBC1D1_uc011byf.1_Missense_Mutation_p.D443N NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 572 nucleus Rab GTPase activator activity ovary(1) 1 CCTGTCCAGTGACTCGGAGAG 0.592 NA 51 158 0 0 0.01441 0 0 SRD5A3 79644 broad.mit.edu 37 4 56236046 56236046 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr4:56236046G>A uc003hau.2 + 5 840 c.745G>A c.(745-747)GAA>AAA p.E249K uc003hav.1_Intron|uc003haw.1_Intron NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 249 Lumenal (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) AGACTGGTTTGAATATGTTTC 0.423 NA 23 108 0 0 0.00632 0 0 Unknown 0 broad.mit.edu 37 4 69343128 69343128 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr4:69343128C>T uc003hdz.3 + 8 813 c.749C>T c.(748-750)ACA>ATA p.T250I NM_014058 NP_054777 transmembrane protease, serine 11E NA TTTGGAGTAACAATAAAACCT 0.368 NA 90 170 0 0 0.01441 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013156 73013156 + Missense_Mutation SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr4:73013156C>T uc003hgg.2 + 4 1294 c.1196C>T c.(1195-1197)TCA>TTA p.S399L NPFFR2_uc010iig.1_Missense_Mutation_p.S181L|NPFFR2_uc003hgi.2_Missense_Mutation_p.S300L|NPFFR2_uc003hgh.2_Missense_Mutation_p.S297L|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 399 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ATGATGCTCTCAGACTACGCT 0.483 NA 23 69 0 0 0.014323 0 0 SDAD1 55153 broad.mit.edu 37 4 76898821 76898821 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr4:76898821C>A uc003hje.3 - 4 502 c.383G>T c.(382-384)TGC>TTC p.C128F SDAD1_uc003hjf.3_Missense_Mutation_p.C31F|SDAD1_uc011cbr.1_Intron NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 128 protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTATCATGGCAACGAAAAAG 0.383 NA 16 73 6.94344e-10 7.62417e-10 0.006122 1 0 C4orf45 152940 broad.mit.edu 37 4 159894386 159894386 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr4:159894386C>G uc003iqf.1 - 2 227 c.142G>C c.(142-144)GAA>CAA p.E48Q C4orf45_uc010iqt.1_Intron NM_152543 NP_689756 Q96LM5 CD045_HUMAN hypothetical protein LOC152940 48 0 CCAGTTTTTTCTAACGCCAGA 0.378 NA 10 15 0 0 0.008291 0 0 ISL1 3670 broad.mit.edu 37 5 50683505 50683505 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr5:50683505G>A uc003jor.2 + 3 948 c.400G>A c.(400-402)GAT>AAT p.D134N NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 134 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) AGCAGACCACGATGTGGTGGA 0.652 NA 22 115 0 0 0.00278 0 0 TRIM36 55521 broad.mit.edu 37 5 114466398 114466398 + Missense_Mutation SNP A A C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr5:114466398A>C uc003kqs.2 - 9 2232 c.1723T>G c.(1723-1725)TTC>GTC p.F575V TRIM36_uc011cwc.1_Missense_Mutation_p.F563V|TRIM36_uc003kqt.2_Missense_Mutation_p.F420V NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 575 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AAGGCCCAGAAGTGTTTTCCT 0.448 NA 36 139 0 0 0.004289 0 0 TXNDC15 79770 broad.mit.edu 37 5 134235280 134235280 + Missense_Mutation SNP T T G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr5:134235280T>G uc003lac.1 + 5 1646 c.988T>G c.(988-990)TTA>GTA p.L330V TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA NM_024715 NP_078991 Q96J42 TXD15_HUMAN disulfide isomerase precursor 330 Helical; (Potential). cell redox homeostasis integral to membrane ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTATTTTCCTTATTCTTTTT 0.403 NA 82 106 0 0 0.01441 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741992 140741992 + Nonsense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr5:140741992G>T uc003ljs.1 + 1 2290 c.2290G>T c.(2290-2292)GAG>TAG p.E764* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Nonsense_Mutation_p.E764*|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 764 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCAAGACAGAGTTCAATTT 0.498 NA 128 186 3.29933e-67 4.65788e-67 0.01441 1 0 MRPL22 29093 broad.mit.edu 37 5 154320812 154320812 + Missense_Mutation SNP A A G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr5:154320812A>G uc003lvy.3 + 2 102 c.64A>G c.(64-66)AAG>GAG p.K22E MRPL22_uc003lvz.3_5'UTR NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 22 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAGCCGGGGGAAGCTGGCCTT 0.468 NA 13 110 0 0 0.00245 0 0 FAM71B 153745 broad.mit.edu 37 5 156589711 156589711 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr5:156589711G>T uc003lwn.2 - 2 1665 c.1565C>A c.(1564-1566)TCT>TAT p.S522Y NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 522 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCTGTGCTAGATGCAGATTG 0.502 NA 88 99 5.81834e-28 7.75779e-28 0.01441 1 0 TFAP2A 7020 broad.mit.edu 37 6 10398887 10398887 + Silent SNP C C T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr6:10398887C>T uc003myr.2 - 7 1329 c.1077G>A c.(1075-1077)CTG>CTA p.L359L TFAP2A_uc003myq.2_Silent_p.L353L|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Nonsense_Mutation_p.W312*|TFAP2A_uc003myt.2_Silent_p.L355L NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 359 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GTGAGTTCCCCAGGGGAGATC 0.607 NA 33 509 0 0 0.004878 0 0 FKBPL 63943 broad.mit.edu 37 6 32097522 32097522 + Missense_Mutation SNP C C A rs143627051 TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr6:32097522C>A uc003nzr.2 - 2 306 c.36G>T c.(34-36)AAG>AAT p.K12N ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 12 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 GAGAGGTGTCCTTTTCTCCAA 0.493 NA 32 18 8.16721e-17 9.87116e-17 0.010818 1 0 DYNLT1 6993 broad.mit.edu 37 6 159065728 159065728 + Missense_Mutation SNP G G C rs151068285 TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr6:159065728G>C uc003qrn.1 - 1 13 c.13C>G c.(13-15)CAG>GAG p.Q5E NM_006519 NP_006510 P63172 DYLT1_HUMAN dynein, light chain, Tctex-type 1 5 cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle identical protein binding|motor activity 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06) TCCGCAGCCTGGTAGTCTTCC 0.612 NA 8 25 0 0 0.008291 0 0 RBAK 57786 broad.mit.edu 37 7 5105125 5105125 + Nonsense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr7:5105125G>T uc010kss.1 + 6 2362 c.2038G>T c.(2038-2040)GAA>TAA p.E680* LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Nonsense_Mutation_p.E680* NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 680 Interaction with AR.|C2H2-type 16. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAAACCCTATGAATGTAACGA 0.388 NA 45 96 1.61572e-30 2.17153e-30 0.010771 1 0 ZNF12 7559 broad.mit.edu 37 7 6732203 6732203 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr7:6732203C>G uc003sqt.1 - 5 924 c.370G>C c.(370-372)GAA>CAA p.E124Q ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Intron NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 124 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GGGTTCGTTTCTACATCAAAA 0.368 NA 82 188 0 0 0.01441 0 0 SCIN 85477 broad.mit.edu 37 7 12668762 12668762 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr7:12668762G>A uc003ssn.3 + 9 1444 c.1234G>A c.(1234-1236)GAC>AAC p.D412N SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.D165N NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 412 Ca(2+)-dependent actin binding.|Gelsolin-like 4. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GATCCAAGTTGACCAAAACTC 0.368 NA 16 59 0 0 0.004007 0 0 GLI3 2737 broad.mit.edu 37 7 42012056 42012056 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr7:42012056C>G uc011kbh.1 - 13 2074 c.1983G>C c.(1981-1983)CAG>CAC p.Q661H GLI3_uc011kbg.1_Missense_Mutation_p.Q602H NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 661 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCGACCTGGACTGTGAATGGC 0.612 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 48 134 0 0 0.01441 0 0 DLD 1738 broad.mit.edu 37 7 107558381 107558381 + Missense_Mutation SNP A A G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr7:107558381A>G uc003vet.2 + 12 1359 c.1249A>G c.(1249-1251)AAA>GAA p.K417E DLD_uc011kmg.1_Missense_Mutation_p.K369E|DLD_uc011kmh.1_Missense_Mutation_p.K394E|DLD_uc011kmi.1_Missense_Mutation_p.K318E NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor 417 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) TATTGAGTACAAAGTTGGGAA 0.393 NA 30 58 0 0 0.012213 0 0 LZTS1 11178 broad.mit.edu 37 8 20110503 20110503 + Silent SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr8:20110503G>A uc003wzr.2 - 2 1050 c.939C>T c.(937-939)GGC>GGT p.G313G LZTS1_uc010ltg.1_Silent_p.G313G NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 313 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCTTGTTGCCGCCTTTGGGCT 0.682 NA 36 84 0 0 0.004289 0 0 LRP12 29967 broad.mit.edu 37 8 105509951 105509951 + Missense_Mutation SNP C C G TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr8:105509951C>G uc003yma.2 - 5 924 c.829G>C c.(829-831)GAC>CAC p.D277H LRP12_uc003ymb.2_Missense_Mutation_p.D258H|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 277 Extracellular (Potential).|CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGATAAAAGTCTGGATAATTG 0.403 NA 10 60 0 0 0.013537 0 0 CNTLN 54875 broad.mit.edu 37 9 17466001 17466001 + Missense_Mutation SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr9:17466001G>T uc003zmz.2 + 22 3577 c.3551G>T c.(3550-3552)TGT>TTT p.C1184F CNTLN_uc003zmy.2_Missense_Mutation_p.C1185F|CNTLN_uc010mio.2_Missense_Mutation_p.C864F NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1185 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) ACTGAAGAATGTTCCAACAAG 0.308 NA 7 18 5.18039e-06 5.57888e-06 0.00308 1 0 Unknown 0 broad.mit.edu 37 9 90746160 90746160 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr9:90746160G>C uc011lti.1 - 4 1821 c.1792C>G c.(1792-1794)CGA>GGA p.R598G SubName: Full=cDNA FLJ59639; NA AGCCAGGATCGACGCACACTC 0.527 NA 61 189 0 0 0.01441 0 0 PTCH1 5727 broad.mit.edu 37 9 98218671 98218671 + Missense_Mutation SNP C C A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr9:98218671C>A uc004avk.3 - 19 3381 c.3193G>T c.(3193-3195)GTC>TTC p.V1065F PTCH1_uc010mro.2_Missense_Mutation_p.V914F|PTCH1_uc010mrp.2_Missense_Mutation_p.V914F|PTCH1_uc010mrq.2_Missense_Mutation_p.V914F|PTCH1_uc004avl.3_Missense_Mutation_p.V914F|PTCH1_uc010mrr.2_Missense_Mutation_p.V999F|PTCH1_uc004avm.3_Missense_Mutation_p.V1064F NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1065 Helical; (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.V1057_L1102del(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AACAGCTCGACCGTCATCAGC 0.627 NA Basal_Cell_Nevus_syndrome 15 34 2.31682e-05 2.46346e-05 0.003163 1 0 ADAMTS13 11093 broad.mit.edu 37 9 136290667 136290667 + Missense_Mutation SNP G G A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr9:136290667G>A uc004cdv.3 + 4 793 c.349G>A c.(349-351)GAC>AAC p.D117N ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D117N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D117N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D117N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D117N|ADAMTS13_uc004cdq.1_Missense_Mutation_p.D117N|ADAMTS13_uc004cds.1_5'UTR|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 117 Peptidase M12B. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACTGCTTCGGGACCCGTCCCT 0.632 NA 11 49 0 0 0.010729 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136291428 136291428 + Missense_Mutation SNP G G C TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr9:136291428G>C uc004cdv.3 + 6 1093 c.649G>C c.(649-651)GAC>CAC p.D217H ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D217H|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D217H|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D217H|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D217H|ADAMTS13_uc004cdy.1_5'Flank|ADAMTS13_uc004cdq.1_Missense_Mutation_p.D217H|ADAMTS13_uc004cds.1_Silent_p.S46S|ADAMTS13_uc004cdr.1_RNA NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 217 Peptidase M12B. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CACTGGCTTCGACCTGGGAGT 0.637 NA 29 94 0 0 0.008361 0 0 NSDHL 50814 broad.mit.edu 37 X 152027454 152027454 + Silent SNP G G T TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chrX:152027454G>T uc004fgt.1 + 5 669 c.408G>T c.(406-408)GGG>GGT p.G136G NSDHL_uc004fgs.1_Silent_p.G136G NM_001129765 NP_001123237 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 136 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity 0 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) AAGAGGCTGGGGTTCAGGTAA 0.517 NA 32 35 2.08457e-15 2.48374e-15 0.010818 1 0 GSTP1 2950 broad.mit.edu 37 11 67353976 67353977 + Frame_Shift_Ins INS - - CC TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr11:67353976_67353977insCC uc001omf.2 + 7 810_811 c.561_562insCC c.(559-564)CGGCCCfs p.R187fs GSTP1_uc001omg.1_Frame_Shift_Ins_p.R168fs NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 187_188 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) TCAGTGCCCGGCCCAAGCTCAA 0.629 NA 21 63 --- --- --- --- NA NA NA NA NA TLN2 83660 broad.mit.edu 37 15 63044512 63044512 + Frame_Shift_Del DEL T T - TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr15:63044512delT uc002alb.3 + 32 4218 c.4218delT c.(4216-4218)GGTfs p.G1406fs TLN2_uc002alc.3_5'UTR NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1406 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AGGTTCTGGGTGAATCGATGG 0.512 NA 32 183 --- --- --- --- NA NA NA NA NA ELAC1 55520 broad.mit.edu 37 18 48513152 48513152 + Frame_Shift_Del DEL A A - TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chr18:48513152delA uc002lez.2 + 4 895 c.789delA c.(787-789)GTAfs p.V263fs SMAD4_uc010xdo.1_Intron NM_018696 NP_061166 Q9H777 RNZ1_HUMAN elaC homolog 1 263 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) ATGGAGGAGTAAAACTGTGCT 0.478 NA 21 56 --- --- --- --- NA NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47034469 47034470 + Frame_Shift_Ins INS - - A TCGA-35-3615-01A-01D-1040-01 TCGA-35-3615-10A-01D-1489-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 21ce9500-32a5-42f4-ad44-37e9c4946015 326f84e7-ec3d-48b0-a470-d07502cd7fef g.chrX:47034469_47034470insA uc004dhf.2 + 6 933_934 c.554_555insA c.(553-555)ACAfs p.T185fs RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Frame_Shift_Ins_p.T108fs|RBM10_uc004dhh.2_Frame_Shift_Ins_p.T185fs|RBM10_uc010nhq.2_Frame_Shift_Ins_p.T108fs|RBM10_uc004dhi.2_Frame_Shift_Ins_p.T250fs NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 185 RRM 1. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CAGGACGCTACACGATGGATGG 0.525 Melanoma(171;120 2705 19495 39241) NA 36 26 --- --- --- --- NA NA NA NA NA