Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter HIVEP3 59269 broad.mit.edu 37 1 42048314 42048314 + Nonsense_Mutation SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:42048314T>A uc001cgz.3 - 4 3368 c.2155A>T c.(2155-2157)AAG>TAG p.K719* HIVEP3_uc001cha.3_Nonsense_Mutation_p.K719*|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 719 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCAAGGCTCTTCTCTTTCCTC 0.537 53 42 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44019608 44019608 + Silent SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:44019608C>G uc001cjr.2 + 5 715 c.375C>G c.(373-375)CTC>CTG p.L125L PTPRF_uc001cjq.3_Silent_p.L125L|PTPRF_uc001cjs.2_Silent_p.L125L|PTPRF_uc001cjt.3_Silent_p.L125L NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 125 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCTCAGTGCTCGAAGGTACGT 0.597 14 36 --- --- --- --- PASS TOE1 114034 broad.mit.edu 37 1 45805976 45805976 + Missense_Mutation SNP G C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:45805976G>C uc009vxq.2 + 1 635 c.52G>C c.(52-54)GGT>CGT p.G18R MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'UTR|MUTYH_uc001cnk.2_5'UTR|MUTYH_uc010oll.1_5'UTR|MUTYH_uc001cnm.2_5'UTR|MUTYH_uc001cnl.2_5'UTR|MUTYH_uc009vxp.2_5'UTR|MUTYH_uc001cnn.2_5'UTR|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.G18R|TOE1_uc010oln.1_Missense_Mutation_p.G18R|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 18 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) AGCTTCCGACGGTGAGCGGCT 0.627 10 15 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89658722 89658722 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:89658722C>G uc001dnb.2 - 5 651 c.535G>C c.(535-537)GAG>CAG p.E179Q NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 179 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) CTGGAGTCCTCAGCTTCATCA 0.483 5 140 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89658731 89658731 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:89658731C>G uc001dnb.2 - 5 642 c.526G>C c.(526-528)GAT>CAT p.D176H NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 176 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TCAGCTTCATCAGGTCTGGGG 0.478 4 142 --- --- --- --- PASS AKNAD1 254268 broad.mit.edu 37 1 109394998 109394998 + Missense_Mutation SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:109394998T>A uc001dwa.2 - 2 558 c.289A>T c.(289-291)ATT>TTT p.I97F AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 97 ovary(3) 3 TTTGCTGGAATATGAAGAGCT 0.393 73 86 --- --- --- --- PASS CSF1 1435 broad.mit.edu 37 1 110466216 110466216 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:110466216C>T uc001dyu.2 + 6 1386 c.973C>T c.(973-975)CCC>TCC p.P325S CSF1_uc001dyt.2_Missense_Mutation_p.P325S|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.P325S NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 325 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) AGAGCTTTCCCCCTCCAGGCC 0.582 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 109 --- --- --- --- PASS ATP1A1 476 broad.mit.edu 37 1 116940528 116940528 + Silent SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:116940528A>T uc001ege.2 + 15 2331 c.1992A>T c.(1990-1992)GTA>GTT p.V664V ATP1A1_uc010owv.1_Silent_p.V633V|ATP1A1_uc010oww.1_Silent_p.V664V|ATP1A1_uc010owx.1_Silent_p.V633V|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 664 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) AGGCCTGCGTAGTACACGGCA 0.468 83 81 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152129183 152129183 + Missense_Mutation SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:152129183T>A uc001ezs.1 - 3 457 c.392A>T c.(391-393)AAC>ATC p.N131I NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 131 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GTGGTGGGAGTTCTGCCTTTC 0.527 66 499 --- --- --- --- PASS C1orf114 57821 broad.mit.edu 37 1 169366527 169366527 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:169366527C>T uc001gga.1 - 5 1486 c.1318G>A c.(1318-1320)GAA>AAA p.E440K C1orf114_uc001gfz.1_Missense_Mutation_p.E439K|C1orf114_uc009wvq.1_Missense_Mutation_p.E439K NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 440 0 all_hematologic(923;0.208) AATAAACATTCCTCTTGCTTT 0.418 23 88 --- --- --- --- PASS PM20D1 148811 broad.mit.edu 37 1 205814506 205814506 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:205814506G>A uc001hdj.2 - 3 481 c.436C>T c.(436-438)CGT>TGT p.R146C PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 146 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ATGCCATCACGCTCCAACCCA 0.572 67 149 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206619426 206619426 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:206619426C>T uc001hdy.2 + 15 1952 c.1619C>T c.(1618-1620)TCA>TTA p.S540L SRGAP2_uc010prt.1_Missense_Mutation_p.S463L|SRGAP2_uc001hdx.2_Missense_Mutation_p.S540L|SRGAP2_uc010pru.1_Missense_Mutation_p.S463L|SRGAP2_uc010prv.1_Missense_Mutation_p.S464L NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 627 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) TCCAGTTTATCACAGTTCAGT 0.547 23 75 --- --- --- --- PASS RD3 343035 broad.mit.edu 37 1 211654707 211654707 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:211654707G>A uc001him.2 - 2 1215 c.51C>T c.(49-51)TCC>TCT p.S17S RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron NM_183059 NP_898882 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 17 response to stimulus|visual perception ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GGCTCCTGGTGGACAGCCGGG 0.632 43 113 --- --- --- --- PASS SMYD2 56950 broad.mit.edu 37 1 214454741 214454741 + Silent SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:214454741G>T uc010ptx.1 + 1 177 c.144G>T c.(142-144)CGG>CGT p.R48R SMYD2_uc009xdj.2_5'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 48 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) TCAACGAGCGGGGCAACCACT 0.632 11 24 --- --- --- --- PASS TLR5 7100 broad.mit.edu 37 1 223285747 223285747 + Nonsense_Mutation SNP A C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:223285747A>C uc001hnv.1 - 4 1073 c.627T>G c.(625-627)TAT>TAG p.Y209* TLR5_uc001hnw.1_Nonsense_Mutation_p.Y209* NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 209 Extracellular (Potential). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) AGACTCTGCTATACAAGCTAT 0.443 15 150 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947700 237947700 + Missense_Mutation SNP G C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:237947700G>C uc001hyl.1 + 90 12808 c.12688G>C c.(12688-12690)GGG>CGG p.G4230R RYR2_uc010pya.1_Missense_Mutation_p.G645R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4230 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAAGAGCAGGGGCCGAGGAT 0.537 17 51 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370312 240370312 + Silent SNP C A A rs145706266 byFrequency TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr1:240370312C>A uc010pyd.1 + 5 2425 c.2200C>A c.(2200-2202)CGG>AGG p.R734R FMN2_uc010pye.1_Silent_p.R738R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 734 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) AAAGGAAGTACGGCATCATAG 0.562 6 92 --- --- --- --- PASS LRPPRC 10128 broad.mit.edu 37 2 44161358 44161358 + Missense_Mutation SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:44161358T>A uc002rtr.2 - 25 2765 c.2707A>T c.(2707-2709)AAT>TAT p.N903Y LRPPRC_uc010yob.1_Missense_Mutation_p.N803Y NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 903 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCTTTGTAATTTCCTGTTTGT 0.338 41 66 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50464081 50464081 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:50464081C>G uc010fbp.2 - 2 1094 c.287G>C c.(286-288)GGT>GCT p.G96A NRXN1_uc002rxb.3_Missense_Mutation_p.G803A|NRXN1_uc010fbq.2_Missense_Mutation_p.G1171A|NRXN1_uc002rxe.3_Missense_Mutation_p.G1131A|NRXN1_uc002rxc.1_RNA NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 96 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTGTCCACCACCTTTGCTAAA 0.428 11 170 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71886094 71886094 + Silent SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:71886094C>G uc002sie.2 + 43 5101 c.4725C>G c.(4723-4725)CCC>CCG p.P1575P DYSF_uc010feg.2_Silent_p.P1606P|DYSF_uc010feh.2_Silent_p.P1582P|DYSF_uc002sig.3_Silent_p.P1561P|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.P1596P|DYSF_uc010fef.2_Silent_p.P1613P|DYSF_uc010fei.2_Silent_p.P1592P|DYSF_uc010fek.2_Silent_p.P1593P|DYSF_uc010fej.2_Silent_p.P1583P|DYSF_uc010fel.2_Silent_p.P1562P|DYSF_uc010feo.2_Silent_p.P1607P|DYSF_uc010fem.2_Silent_p.P1597P|DYSF_uc010fen.2_Silent_p.P1614P|DYSF_uc002sif.2_Silent_p.P1576P|DYSF_uc010yqy.1_Silent_p.P456P|DYSF_uc010yqz.1_Silent_p.P336P NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1575 Cytoplasmic (Potential).|C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CCCAGGGACCCCAGGAGTGCT 0.572 33 230 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746266 77746266 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:77746266G>A uc002snr.2 - 3 1144 c.729C>T c.(727-729)TCC>TCT p.S243S LRRTM4_uc002snq.2_Silent_p.S243S|LRRTM4_uc002sns.2_Silent_p.S243S|LRRTM4_uc002snt.2_Silent_p.S244S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 243 LRR 8.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CTTGGCTAATGGAGCGAATCC 0.448 8 50 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125175047 125175047 + Missense_Mutation SNP A C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:125175047A>C uc002tno.2 + 4 773 c.409A>C c.(409-411)AGC>CGC p.S137R CNTNAP5_uc010flu.2_Missense_Mutation_p.S137R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 137 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GAATGCTGACAGCGTGGTGCA 0.483 8 58 --- --- --- --- PASS TUBA3D 113457 broad.mit.edu 37 2 132238108 132238108 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:132238108C>T uc002tsu.3 + 4 949 c.842C>T c.(841-843)GCC>GTC p.A281V NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 281 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) GCTGAGAAGGCCTACCACGAG 0.582 142 113 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141283440 141283440 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:141283440C>A uc002tvj.1 - 49 8971 c.7999G>T c.(7999-8001)GAC>TAC p.D2667Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2667 Extracellular (Potential).|LDL-receptor class A 14. 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) TCTGAATAGTCTCCACAGTCA 0.413 TSP Lung(27;0.18) 63 61 --- --- --- --- PASS PDE1A 5136 broad.mit.edu 37 2 183104928 183104928 + Silent SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:183104928G>T uc002uos.2 - 4 391 c.307C>A c.(307-309)CGG>AGG p.R103R PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.R103R|PDE1A_uc010zfq.1_Silent_p.R103R|PDE1A_uc002uor.2_Silent_p.R87R|PDE1A_uc002uou.2_Silent_p.R69R NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 103 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) CCCATTTTCCGTGTAAAGGTA 0.423 117 207 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 186678704 186678704 + RNA SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:186678704A>T uc002upm.2 + 2 c.3342A>T uc010zfu.1_Missense_Mutation_p.M1252L Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669. TGAGCTTGACATGGCCACACC 0.438 63 152 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206480528 206480528 + Silent SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr2:206480528A>G uc002var.1 + 23 3816 c.3609A>G c.(3607-3609)GCA>GCG p.A1203A PARD3B_uc002vao.1_Silent_p.A1102A|PARD3B_uc002vap.1_Silent_p.A1141A|PARD3B_uc002vaq.1_Silent_p.A1134A|uc010fuc.1_5'Flank NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1203 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCATGACTGCAGCCGTATAGC 0.587 66 67 --- --- --- --- PASS SATB1 6304 broad.mit.edu 37 3 18436276 18436276 + Missense_Mutation SNP G C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:18436276G>C uc003cbh.2 - 7 2619 c.884C>G c.(883-885)TCT>TGT p.S295C SATB1_uc003cbi.2_Missense_Mutation_p.S295C|SATB1_uc003cbj.2_Missense_Mutation_p.S295C NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 295 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 TGTCCGGACAGAGGGCTGGCT 0.582 43 50 --- --- --- --- PASS XYLB 9942 broad.mit.edu 37 3 38415993 38415993 + Silent SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:38415993G>T uc003cic.2 + 11 997 c.888G>T c.(886-888)GCG>GCT p.A296A XYLB_uc011ayp.1_Silent_p.A159A|XYLB_uc003cid.1_Silent_p.A218A NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 296 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) GTGACATTGCGGTAAGGCGAC 0.562 46 46 --- --- --- --- PASS NT5DC2 64943 broad.mit.edu 37 3 52562310 52562310 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:52562310C>T uc003deo.2 - 6 973 c.549G>A c.(547-549)CAG>CAA p.Q183Q NT5DC2_uc003dem.2_Silent_p.Q53Q|NT5DC2_uc003den.2_Silent_p.Q220Q|NT5DC2_uc010hmi.2_Silent_p.Q195Q|NT5DC2_uc010hmj.2_5'UTR NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 183 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TGTCCATGAACTGCTTAATGG 0.572 49 69 --- --- --- --- PASS MAGI1 9223 broad.mit.edu 37 3 65342499 65342499 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:65342499C>T uc003dmn.2 - 23 4469 c.3943G>A c.(3943-3945)GCC>ACC p.A1315T MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1344 Poly-Ala. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGGCCGTTGGCGGCTGCCGCG 0.697 3 32 --- --- --- --- PASS MAGI1 9223 broad.mit.edu 37 3 65367554 65367554 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:65367554G>A uc003dmn.2 - 16 3225 c.2699C>T c.(2698-2700)GCG>GTG p.A900V MAGI1_uc003dmm.2_Missense_Mutation_p.A928V|MAGI1_uc003dmo.2_Missense_Mutation_p.A928V|MAGI1_uc003dmp.2_Missense_Mutation_p.A900V|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.A211V NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 928 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ATACATACCCGCAAAAACCAC 0.473 11 52 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119120970 119120970 + Silent SNP G C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:119120970G>C uc003ecj.3 + 10 1903 c.1371G>C c.(1369-1371)TCG>TCC p.S457S NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 457 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TCTACACTTCGAACGACAGCC 0.592 64 129 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147114021 147114021 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:147114021G>T uc003ewd.1 - 3 579 c.306C>A c.(304-306)AAC>AAA p.N102K ZIC4_uc003ewc.1_Missense_Mutation_p.N32K|ZIC4_uc011bno.1_Missense_Mutation_p.N152K NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 102 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TCACCGTCAGGTTCATGCCCC 0.697 19 43 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170185011 170185011 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr3:170185011G>T uc003fgz.2 - 8 2464 c.2148C>A c.(2146-2148)AGC>AGA p.S716R CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 716 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGTCCTCCTGGCTCTCGCCCT 0.577 22 232 --- --- --- --- PASS ZNF721 170960 broad.mit.edu 37 4 436622 436622 + Missense_Mutation SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr4:436622T>C uc003gag.2 - 3 2325 c.1634A>G c.(1633-1635)TAT>TGT p.Y545C ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Y577C|ZNF721_uc010ibe.2_Missense_Mutation_p.Y533C NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 545 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CCTATGTACATAAAGGATTGC 0.403 104 112 --- --- --- --- PASS ZBTB49 166793 broad.mit.edu 37 4 4304558 4304558 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr4:4304558G>A uc003ghu.2 + 3 1170 c.995G>A c.(994-996)GGT>GAT p.G332D ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.G32D NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TCAGATGATGGTTTGACAAAG 0.418 45 46 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30724309 30724309 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr4:30724309G>A uc003gsk.1 + 1 2273 c.1265G>A c.(1264-1266)CGC>CAC p.R422H PCDH7_uc011bxw.1_Missense_Mutation_p.R375H|PCDH7_uc011bxx.1_Missense_Mutation_p.R422H NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 422 Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 AAGATTGGGCGCATCCCCCTC 0.627 3 67 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183594205 183594205 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr4:183594205G>A uc003ivd.1 + 6 1196 c.1159G>A c.(1159-1161)GAA>AAA p.E387K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 387 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGATTCCGGAGAACTTGATAT 0.358 5 16 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31305407 31305407 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr5:31305407G>T uc003jhe.1 + 7 1452 c.1126G>T c.(1126-1128)GAT>TAT p.D376Y CDH6_uc003jhd.1_Missense_Mutation_p.D376Y NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 376 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TGTGGTGGAGGATGTAGATGA 0.458 50 132 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33549443 33549443 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr5:33549443A>T uc003jia.1 - 21 4334 c.4171T>A c.(4171-4173)TGC>AGC p.C1391S ADAMTS12_uc010iuq.1_Missense_Mutation_p.C1306S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1391 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTGTCCACGCACTGAATCTCG 0.572 HNSCC(64;0.19) 41 202 --- --- --- --- PASS CKMT2 1160 broad.mit.edu 37 5 80548572 80548572 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr5:80548572G>A uc003khc.3 + 4 453 c.211G>A c.(211-213)GCC>ACC p.A71T RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.A71T|CKMT2_uc003khd.3_Missense_Mutation_p.A71T|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 71 Phosphagen kinase N-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CCTCACCCCCGCCATTTATGC 0.612 53 51 --- --- --- --- PASS CKMT2 1160 broad.mit.edu 37 5 80548574 80548574 + Silent SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr5:80548574C>A uc003khc.3 + 4 455 c.213C>A c.(211-213)GCC>GCA p.A71A RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Silent_p.A71A|CKMT2_uc003khd.3_Silent_p.A71A|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 71 Phosphagen kinase N-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) TCACCCCCGCCATTTATGCCA 0.612 51 54 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140710522 140710522 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr5:140710522G>A uc003lji.1 + 1 271 c.271G>A c.(271-273)GAC>AAC p.D91N PCDHGA1_uc011dan.1_Missense_Mutation_p.D91N NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 91 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCAGGATAGACCGGGAGGA 0.512 8 249 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153078581 153078581 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr5:153078581G>A uc003lva.3 + 10 1765 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q GRIA1_uc003luy.3_Missense_Mutation_p.R467Q|GRIA1_uc003luz.3_Missense_Mutation_p.R372Q|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R387Q|GRIA1_uc011dcx.1_Missense_Mutation_p.R398Q|GRIA1_uc011dcy.1_Missense_Mutation_p.R477Q|GRIA1_uc011dcz.1_Missense_Mutation_p.R477Q|GRIA1_uc010jia.1_Missense_Mutation_p.R447Q NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 467 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACGGAGCCCGAGACCCTGAC 0.562 20 34 --- --- --- --- PASS NEDD9 4739 broad.mit.edu 37 6 11185599 11185599 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr6:11185599C>T uc003mzv.2 - 7 2468 c.2301G>A c.(2299-2301)GTG>GTA p.V767V NEDD9_uc010joz.2_Silent_p.V767V|NEDD9_uc003mzw.3_Silent_p.V621V NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 767 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CCTGGGCAGTCACCTGCCGTG 0.557 7 199 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66205194 66205194 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr6:66205194G>A uc011dxu.1 - 4 648 c.110C>T c.(109-111)TCA>TTA p.S37L EYS_uc003peq.2_Missense_Mutation_p.S37L|EYS_uc003per.1_Missense_Mutation_p.S37L|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 37 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CACATATGATGAGGGTTGTGG 0.393 7 279 --- --- --- --- PASS MARCKS 4082 broad.mit.edu 37 6 114181255 114181255 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr6:114181255A>T uc003pvy.3 + 2 894 c.499A>T c.(499-501)AGC>TGC p.S167C NM_002356 NP_002347 P29966 MARCS_HUMAN myristoylated alanine-rich protein kinase C 167 Calmodulin-binding (PSD). energy reserve metabolic process|regulation of insulin secretion actin cytoskeleton|plasma membrane actin filament binding|calmodulin binding 0 all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198) Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322) TTTCAAGCTGAGCGGCTTCTC 0.493 19 33 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146480556 146480556 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr6:146480556C>G uc010khw.1 + 3 1243 c.773C>G c.(772-774)TCT>TGT p.S258C GRM1_uc010khu.1_Missense_Mutation_p.S258C|GRM1_uc010khv.1_Missense_Mutation_p.S258C|GRM1_uc003qll.2_Missense_Mutation_p.S258C|GRM1_uc011edz.1_Missense_Mutation_p.S258C|GRM1_uc011eea.1_Missense_Mutation_p.S258C NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 258 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATCGCCCATTCTGACAAAATC 0.527 23 148 --- --- --- --- PASS C6orf72 116254 broad.mit.edu 37 6 149903651 149903651 + Nonsense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr6:149903651C>T uc003qmq.1 + 7 820 c.793C>T c.(793-795)CAG>TAG p.Q265* NM_138785 NP_620140 Q9NU53 CF072_HUMAN hypothetical protein LOC116254 precursor 265 Extracellular (Potential). integral to membrane 0 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171) AGTATTCTTTCAGTTTTTGAA 0.363 6 320 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42005902 42005902 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:42005902G>A uc011kbh.1 - 15 2860 c.2769C>T c.(2767-2769)CCC>CCT p.P923P GLI3_uc011kbg.1_Silent_p.P864P NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 923 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 ACTGCTGGGCGGGCGTGAGGC 0.716 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 7 16 --- --- --- --- PASS TNS3 64759 broad.mit.edu 37 7 47408322 47408322 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:47408322C>G uc003tnv.2 - 17 2288 c.1921G>C c.(1921-1923)GTG>CTG p.V641L TNS3_uc003tnw.2_Missense_Mutation_p.V641L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 641 focal adhesion protein binding ovary(4) 4 TGGACAGCCACCCTACTGCTG 0.662 41 166 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72892464 72892464 + Missense_Mutation SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:72892464T>C uc003tyc.2 - 7 1672 c.1327A>G c.(1327-1329)ATG>GTG p.M443V NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 443 Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) CCTTTGGCCATATCCAACAAA 0.478 74 232 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110763554 110763554 + Silent SNP T G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:110763554T>G uc003vft.3 + 4 1772 c.726T>G c.(724-726)TCT>TCG p.S242S IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.S242S|LRRN3_uc003vfs.3_Silent_p.S242S NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 242 Extracellular (Potential).|LRR 8. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AAAGCATCTCTTTTTACGATA 0.348 65 123 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117232171 117232171 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:117232171C>T uc003vjd.2 + 14 2082 c.1950C>T c.(1948-1950)TTC>TTT p.F650F CFTR_uc011knq.1_Silent_p.F56F NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 650 Cytoplasmic (Potential). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTGATTCTTTCGACCAATTTA 0.383 Cystic_Fibrosis 9 143 --- --- --- --- PASS CCDC136 64753 broad.mit.edu 37 7 128452070 128452070 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:128452070G>A uc003vnv.1 + 13 2612 c.2245G>A c.(2245-2247)GGT>AGT p.G749S CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.G565S|CCDC136_uc010llq.1_Missense_Mutation_p.G118S|CCDC136_uc003vny.1_Missense_Mutation_p.G359S NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 749 integral to membrane protein binding ovary(2) 2 GAAGAGCTATGGTAGCATGGT 0.498 50 127 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128494225 128494225 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:128494225C>T uc003vnz.3 + 40 6891 c.6682C>T c.(6682-6684)CGG>TGG p.R2228W FLNC_uc003voa.3_Missense_Mutation_p.R2195W NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2228 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTTCCTGGGCCGGGAGCGCCT 0.716 9 33 --- --- --- --- PASS AHCYL2 23382 broad.mit.edu 37 7 129040166 129040166 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:129040166G>A uc011kov.1 + 6 913 c.859G>A c.(859-861)GAT>AAT p.D287N AHCYL2_uc003vot.2_Missense_Mutation_p.D286N|AHCYL2_uc003vov.2_Missense_Mutation_p.D184N|AHCYL2_uc011kow.1_Missense_Mutation_p.D185N|AHCYL2_uc011kox.1_Missense_Mutation_p.D184N NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 287 one-carbon metabolic process adenosylhomocysteinase activity p.D287G(1) ovary(2) 2 AGAGTCAGAAGATGACTTTTG 0.448 63 118 --- --- --- --- PASS TAS2R41 259287 broad.mit.edu 37 7 143175723 143175723 + Missense_Mutation SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:143175723A>G uc003wdc.1 + 1 758 c.758A>G c.(757-759)GAT>GGT p.D253G uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 253 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) CTGATCATTGATGCCGCAAAA 0.498 55 137 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150174631 150174631 + Silent SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr7:150174631T>A uc003whj.2 + 5 2091 c.1761T>A c.(1759-1761)CTT>CTA p.L587L NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 587 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ACAAAGCCCTTCGGCGCATTT 0.468 74 162 --- --- --- --- PASS CLN8 2055 broad.mit.edu 37 8 1728668 1728668 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:1728668G>T uc003wpo.3 + 3 1101 c.796G>T c.(796-798)GCA>TCA p.A266S NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 266 cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) CTGGAACTTCGCACAGCCAGA 0.577 65 153 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189016 11189016 + Missense_Mutation SNP G C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:11189016G>C uc003wtp.1 + 1 522 c.401G>C c.(400-402)CGC>CCC p.R134P NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 134 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) GCCACTGTTCGCAAAGGTTCT 0.607 70 168 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189017 11189017 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:11189017C>T uc003wtp.1 + 1 523 c.402C>T c.(400-402)CGC>CGT p.R134R NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 134 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CCACTGTTCGCAAAGGTTCTT 0.607 71 172 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25126369 25126369 + Missense_Mutation SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:25126369A>G uc003xeg.2 + 3 273 c.136A>G c.(136-138)AGA>GGA p.R46G DOCK5_uc010luf.1_RNA|DOCK5_uc003xef.2_Missense_Mutation_p.R46G NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 46 SH3. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGGTTGGTACAGAGGATATAC 0.299 5 22 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55540872 55540872 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:55540872A>T uc003xsd.1 + 4 4578 c.4430A>T c.(4429-4431)GAT>GTT p.D1477V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1477 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CATGACACTGATATCTTTAAT 0.358 36 93 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72935258 72935258 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:72935258A>T uc003xza.2 - 27 3418 c.3243T>A c.(3241-3243)GAT>GAA p.D1081E uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 1081 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AATGGCTATCATCATCCTCTG 0.398 45 106 --- --- --- --- PASS HEY1 23462 broad.mit.edu 37 8 80677993 80677993 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:80677993C>T uc003ybm.2 - 5 545 c.345G>A c.(343-345)GCG>GCA p.A115A HEY1_uc010lzq.2_5'UTR|HEY1_uc003ybl.2_Silent_p.A119A NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 115 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) CAAGGGCGTGCGCGTCAAAGT 0.488 OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 107 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113299462 113299462 + Silent SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:113299462C>A uc003ynu.2 - 58 9321 c.9162G>T c.(9160-9162)GGG>GGT p.G3054G CSMD3_uc003yns.2_Silent_p.G2256G|CSMD3_uc003ynt.2_Silent_p.G3014G|CSMD3_uc011lhx.1_Silent_p.G2885G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3054 Extracellular (Potential).|Sushi 22. integral to membrane|plasma membrane p.G3054E(1) ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CGCCACATGTCCCAGTAGCAT 0.438 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 100 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113395831 113395831 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr8:113395831C>A uc003ynu.2 - 37 6155 c.5996G>T c.(5995-5997)GGA>GTA p.G1999V CSMD3_uc003yns.2_Missense_Mutation_p.G1201V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1959V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1895V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1999 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATTGTTGTCTCCCCCATCATA 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 91 --- --- --- --- PASS SH3GL2 6456 broad.mit.edu 37 9 17795590 17795590 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:17795590C>A uc003zna.2 + 9 1196 c.908C>A c.(907-909)CCT>CAT p.P303H SH3GL2_uc011lmy.1_Missense_Mutation_p.P256H NM_003026 NP_003017 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 303 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding skin(1) 1 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GACTTTGAACCTGAAAATGAA 0.468 44 37 --- --- --- --- PASS DCAF10 79269 broad.mit.edu 37 9 37801401 37801401 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:37801401G>T uc004aao.2 + 1 612 c.538G>T c.(538-540)GGG>TGG p.G180W uc004aan.1_5'Flank|DCAF10_uc010mlz.2_Intron NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 180 WD 1. CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 CTCGCCCGACGGGTAAGCGCG 0.736 8 16 --- --- --- --- PASS C9orf102 375748 broad.mit.edu 37 9 98683538 98683538 + Nonsense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:98683538C>T uc004avt.3 + 7 1661 c.1273C>T c.(1273-1275)CAA>TAA p.Q425* C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Nonsense_Mutation_p.Q127*|C9orf102_uc010mry.1_Nonsense_Mutation_p.Q127*|C9orf102_uc010mrz.2_Nonsense_Mutation_p.Q236*|C9orf102_uc004avu.2_5'Flank NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 425 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) TTTGATACTTCAATCTTCTGA 0.348 8 142 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101778305 101778305 + Silent SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:101778305C>G uc004azb.1 + 11 1757 c.1551C>G c.(1549-1551)CCC>CCG p.P517P NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 517 Nonhelical region 1 (NC1).|4.|4 X tandem repeats. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CAGAGGAGCCCCTCATCACAG 0.592 16 34 --- --- --- --- PASS OR1Q1 158131 broad.mit.edu 37 9 125377461 125377461 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:125377461C>A uc011lyy.1 + 1 445 c.445C>A c.(445-447)CAT>AAT p.H149N NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGTCATGTGCCATGCTCTCTC 0.488 47 218 --- --- --- --- PASS OR1L4 254973 broad.mit.edu 37 9 125487159 125487159 + Silent SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:125487159T>C uc004bmu.1 + 1 891 c.891T>C c.(889-891)GAT>GAC p.D297D NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGAACAAAGATATGAAAAGGG 0.398 52 77 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131745571 131745571 + Splice_Site SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr9:131745571G>A uc004bws.1 + 18 1819 c.1797_splice c.e18-1 p.R599_splice NUP188_uc004bwu.2_5'Flank NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TCTCCAACCAGGTTAACGACA 0.463 5 225 --- --- --- --- PASS C10orf18 54906 broad.mit.edu 37 10 5803317 5803317 + Missense_Mutation SNP G C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr10:5803317G>C uc001iij.2 + 19 7682 c.7057G>C c.(7057-7059)GAA>CAA p.E2353Q C10orf18_uc001iik.2_Missense_Mutation_p.E1197Q NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2353 ovary(1)|central_nervous_system(1) 2 AAATATCATTGAATTGCTTCA 0.338 7 245 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26310568 26310568 + Missense_Mutation SNP A C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr10:26310568A>C uc001isn.2 + 8 1082 c.722A>C c.(721-723)AAA>ACA p.K241T MYO3A_uc009xko.1_Missense_Mutation_p.K241T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.K241T|MYO3A_uc001ism.2_Missense_Mutation_p.K241T NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 241 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GCACTCTTCAAAATACCAAGG 0.507 59 133 --- --- --- --- PASS CCNY 219771 broad.mit.edu 37 10 35854998 35854998 + Missense_Mutation SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr10:35854998A>G uc001iyw.3 + 9 974 c.794A>G c.(793-795)AAT>AGT p.N265S CCNY_uc001iyu.3_Missense_Mutation_p.N211S|CCNY_uc001iyv.3_Missense_Mutation_p.N211S|CCNY_uc001iyx.3_Missense_Mutation_p.N211S|CCNY_uc009xmb.2_Missense_Mutation_p.N240S|CCNY_uc010qet.1_Missense_Mutation_p.N132S NM_145012 NP_659449 Q8ND76 CCNY_HUMAN cyclin Y isoform 1 265 Cyclin N-terminal. cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding 0 TTCAACATCAATGTTCCTTCC 0.483 75 247 --- --- --- --- PASS BMPR1A 657 broad.mit.edu 37 10 88672053 88672053 + Missense_Mutation SNP A T T rs141608069 TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr10:88672053A>T uc001kdy.2 + 8 1135 c.587A>T c.(586-588)GAT>GTT p.D196V NM_004329 NP_004320 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 196 Cytoplasmic (Potential). BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 8 TTGGAACAGGATGAAGCATTT 0.358 Mis|N|F gastrointestinal polyps Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis 50 80 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6191414 6191414 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:6191414A>T uc010qzy.1 - 1 143 c.143T>A c.(142-144)ATA>AAA p.I48K NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATAACCACTATCAGGATGCT 0.498 54 117 --- --- --- --- PASS CNGA4 1262 broad.mit.edu 37 11 6265463 6265463 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:6265463C>A uc001mco.2 + 6 1659 c.1552C>A c.(1552-1554)CTG>ATG p.L518M CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 518 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGGCTGAGCTGGAGTCCAG 0.597 39 109 --- --- --- --- PASS OR2AG2 338755 broad.mit.edu 37 11 6789694 6789694 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:6789694G>T uc001meq.1 - 1 495 c.495C>A c.(493-495)CAC>CAA p.H165Q NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGAAAGGGAGGTGCATAGTGT 0.512 53 95 --- --- --- --- PASS TRAF6 7189 broad.mit.edu 37 11 36522776 36522776 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:36522776G>A uc001mwr.1 - 3 630 c.290C>T c.(289-291)TCA>TTA p.S97L TRAF6_uc001mws.1_Missense_Mutation_p.S97L NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 97 Interaction with TAX1BP1.|RING-type. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) GTACCTTATTGATTTTATGAT 0.423 7 19 --- --- --- --- PASS PTPRJ 5795 broad.mit.edu 37 11 48164469 48164469 + Splice_Site SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:48164469A>G uc001ngp.3 + 12 2799 c.2444_splice c.e12-2 p.D815_splice NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 gttttgttttAGATCCCCCTC 0.398 15 32 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66472844 66472844 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:66472844C>A uc001ojd.2 - 14 1975 c.1903G>T c.(1903-1905)GCC>TCC p.A635S NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 635 Spectrin 3. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCCAGCCGGGCCCGCCGCGCC 0.672 16 46 --- --- --- --- PASS TBC1D10C 374403 broad.mit.edu 37 11 67177085 67177085 + Nonsense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:67177085G>T uc001ola.2 + 10 1230 c.1201G>T c.(1201-1203)GAG>TAG p.E401* PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 401 intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCCCCGGAGGAGCCCAGACC 0.726 7 4 --- --- --- --- PASS PRCP 5547 broad.mit.edu 37 11 82549495 82549495 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:82549495C>A uc001ozs.2 - 8 1321 c.1208G>T c.(1207-1209)AGG>ATG p.R403M PRCP_uc001ozr.2_Missense_Mutation_p.R424M NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 403 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 CCAGGAGGGCCTTGGTCTCAC 0.408 41 114 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534971 92534971 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:92534971G>T uc001pdj.3 + 9 8809 c.8792G>T c.(8791-8793)GGG>GTG p.G2931V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2931 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGTACCGAGGGAATGTGAAG 0.542 TCGA Ovarian(4;0.039) 44 132 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121039502 121039502 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:121039502G>A uc010rzo.1 + 19 5867 c.5867G>A c.(5866-5868)CGA>CAA p.R1956Q NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1956 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTGACGACTCGAGATGTGCTG 0.483 58 160 --- --- --- --- PASS FLI1 2313 broad.mit.edu 37 11 128680432 128680432 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:128680432A>T uc010sbu.1 + 9 1249 c.908A>T c.(907-909)GAG>GTG p.E303V FLI1_uc010sbt.1_Missense_Mutation_p.E110V|FLI1_uc010sbv.1_Missense_Mutation_p.E270V|FLI1_uc009zci.2_Missense_Mutation_p.E237V NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 303 ETS. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) ATCACCTGGGAGGGGACCAAC 0.617 T EWSR1 Ewing sarcoma 11 20 --- --- --- --- PASS BCL2L14 79370 broad.mit.edu 37 12 12247859 12247859 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:12247859G>A uc001rac.2 + 5 1141 c.940G>A c.(940-942)GGA>AGA p.G314R ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.G314R|BCL2L14_uc001rae.2_3'UTR NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN BCL2-like 14 isoform 1 314 BH2. apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding skin(1) 1 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) GCAGCACGGTGGATGGGTAAG 0.428 34 77 --- --- --- --- PASS WBP11 51729 broad.mit.edu 37 12 14952603 14952603 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:14952603C>G uc001rci.2 - 4 317 c.156G>C c.(154-156)CAG>CAC p.Q52H NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 52 mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 CTCGGATTATCTGTTTTGGAT 0.413 13 64 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29617471 29617471 + Silent SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:29617471A>G uc001rix.1 - 18 2094 c.2094T>C c.(2092-2094)TGT>TGC p.C698C NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 698 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CGGTCACAGCACAGATCTCCG 0.443 28 53 --- --- --- --- PASS DNM1L 10059 broad.mit.edu 37 12 32871652 32871652 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:32871652G>A uc001rld.2 + 7 856 c.695G>A c.(694-696)GGA>GAA p.G232E DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_Intron|DNM1L_uc001rle.2_Missense_Mutation_p.G232E|DNM1L_uc001rlf.2_Missense_Mutation_p.G232E|DNM1L_uc010skh.1_Missense_Mutation_p.G298E|DNM1L_uc001rlg.2_Missense_Mutation_p.G298E|DNM1L_uc001rlh.2_Missense_Mutation_p.G285E|DNM1L_uc010ski.1_Intron NM_012062 NP_036192 O00429 DNM1L_HUMAN dynamin 1-like isoform 1 232 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GTATTGATGGGAAGGGTTATT 0.398 78 199 --- --- --- --- PASS YARS2 51067 broad.mit.edu 37 12 32906869 32906869 + Silent SNP C A A rs147551647 byFrequency TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:32906869C>A uc001rli.2 - 2 996 c.930G>T c.(928-930)CCG>CCT p.P310P NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 310 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CTGAATCGTCCGGTTGCCTGA 0.398 80 257 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400573 78400573 + Nonsense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:78400573G>T uc001syp.2 + 8 1428 c.1255G>T c.(1255-1257)GAA>TAA p.E419* NAV3_uc001syo.2_Nonsense_Mutation_p.E419* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 419 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGCCTTTTCTGAATCTGGTGA 0.498 HNSCC(70;0.22) 88 142 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101750711 101750711 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:101750711C>T uc001tia.1 + 43 5698 c.5542C>T c.(5542-5544)CTG>TTG p.L1848L NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1848 HEAT 2. endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TAGTATTTTGCTGAAAGTGTG 0.368 15 60 --- --- --- --- PASS DTX1 1840 broad.mit.edu 37 12 113531399 113531399 + Silent SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:113531399C>G uc001tuk.1 + 4 1395 c.1059C>G c.(1057-1059)GCC>GCG p.A353A NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 353 Pro-rich. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 TGACGCGGGCCCCCAAGCCCA 0.716 15 16 --- --- --- --- PASS CHFR 55743 broad.mit.edu 37 12 133419614 133419614 + Silent SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr12:133419614C>T uc001ulf.2 - 17 2019 c.1935G>A c.(1933-1935)GTG>GTA p.V645V CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.V633V|CHFR_uc010tbs.1_Silent_p.V644V|CHFR_uc001uld.2_Silent_p.V604V|CHFR_uc010tbt.1_Silent_p.V553V NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 645 PBZ-type. cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GGTGAGCTTTCACCTGAGTGC 0.527 5 29 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70681657 70681657 + Missense_Mutation SNP T G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr13:70681657T>G uc001vip.2 - 1 969 c.175A>C c.(175-177)AGC>CGC p.S59R KLHL1_uc010thm.1_Missense_Mutation_p.S59R|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 59 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTCTCTTGGCTTTTGAGCAGG 0.473 63 49 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30133053 30133053 + Missense_Mutation SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr14:30133053T>C uc001wqh.2 - 4 729 c.548A>G c.(547-549)AAT>AGT p.N183S NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 183 Phorbol-ester/DAG-type 1. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CTTATGGTAATTCAGACCACA 0.368 193 123 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42356395 42356395 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr14:42356395G>A uc001wvm.2 + 3 1765 c.567G>A c.(565-567)GGG>GGA p.G189G LRFN5_uc010ana.2_Silent_p.G189G NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 189 Extracellular (Potential).|LRR 6. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCCTAAGGGGACCTTCTCCC 0.418 HNSCC(30;0.082) 42 38 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72138033 72138033 + Missense_Mutation SNP A T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr14:72138033A>T uc001xms.2 + 8 2801 c.2453A>T c.(2452-2454)GAA>GTA p.E818V SIPA1L1_uc001xmt.2_Missense_Mutation_p.E818V|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E818V|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E818V|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E293V NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 818 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GATCTGGCAGAAAAGAATGTC 0.483 18 76 --- --- --- --- PASS RPS6KA5 9252 broad.mit.edu 37 14 91366504 91366504 + Missense_Mutation SNP A G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr14:91366504A>G uc001xys.2 - 11 1542 c.1327T>C c.(1327-1329)TGT>CGT p.C443R RPS6KA5_uc010twi.1_Missense_Mutation_p.C364R|RPS6KA5_uc001xyt.2_Missense_Mutation_p.C443R NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 443 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TTATGCACACACTTTCGACAA 0.338 7 198 --- --- --- --- PASS MARK3 4140 broad.mit.edu 37 14 103941438 103941438 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr14:103941438G>T uc001ymz.3 + 13 2039 c.1373G>T c.(1372-1374)AGT>ATT p.S458I MARK3_uc001ymx.3_Missense_Mutation_p.S458I|MARK3_uc001ymw.3_Missense_Mutation_p.S458I|MARK3_uc001yna.3_Missense_Mutation_p.S442I|MARK3_uc001ymy.3_Missense_Mutation_p.S379I|MARK3_uc010awp.2_Missense_Mutation_p.S481I|MARK3_uc010tyb.1_Missense_Mutation_p.S253I|MARK3_uc010awq.2_5'UTR NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 458 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) TCAAGTGGCAGTGCTGTTGGA 0.483 56 33 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106967307 106967307 + RNA SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr14:106967307C>T uc010tyt.1 - 201 c.9134G>A Parts of antibodies, mostly variable regions. 0 CCCCAGGCTTCTTCACCTCAG 0.557 9 179 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369231 22369231 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr15:22369231C>A uc010tzu.1 + 1 656 c.656C>A c.(655-657)GCC>GAC p.A219D LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATGTCCTATGCCTTCCTTCTG 0.478 53 543 --- --- --- --- PASS B2M 567 broad.mit.edu 37 15 45007661 45007661 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr15:45007661G>A uc001zuc.2 + 2 168 c.108G>A c.(106-108)GAG>GAA p.E36E B2M_uc010uek.1_Silent_p.E36E|B2M_uc010bdx.1_Silent_p.E36E NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 36 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) ATCCAGCAGAGAATGGAAAGT 0.408 31 267 --- --- --- --- PASS IGF1R 3480 broad.mit.edu 37 15 99456467 99456467 + Missense_Mutation SNP G A A rs56248469 TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr15:99456467G>A uc002bul.2 + 8 1834 c.1784G>A c.(1783-1785)CGT>CAT p.R595H IGF1R_uc010urq.1_Missense_Mutation_p.R595H|IGF1R_uc010bon.2_Missense_Mutation_p.R595H|IGF1R_uc010urr.1_Missense_Mutation_p.R45H NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 595 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GACCATATCCGTGGGGCCAAG 0.557 75 214 --- --- --- --- PASS SLC6A2 6530 broad.mit.edu 37 16 55719106 55719106 + Silent SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:55719106G>T uc002eif.2 + 5 807 c.696G>T c.(694-696)CTG>CTT p.L232L SLC6A2_uc010ccd.2_Silent_p.L232L|SLC6A2_uc002eig.2_Silent_p.L232L|SLC6A2_uc002eih.2_Silent_p.L232L|SLC6A2_uc002eii.2_Silent_p.L127L|SLC6A2_uc002eij.2_5'UTR NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 232 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) ACATCGGCCTGCCCCAGTGGC 0.557 12 42 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66946299 66946299 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:66946299G>T uc002eql.2 - 12 1467 c.1394C>A c.(1393-1395)CCC>CAC p.P465H CDH16_uc010cdy.2_Missense_Mutation_p.P465H|CDH16_uc002eqm.2_Missense_Mutation_p.P368H NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 465 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CAGAGTCCCGGGCTCCACATC 0.607 105 53 --- --- --- --- PASS FTSJD1 55783 broad.mit.edu 37 16 71319357 71319357 + Missense_Mutation SNP T G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:71319357T>G uc010cga.2 - 3 873 c.467A>C c.(466-468)CAC>CCC p.H156P FTSJD1_uc002ezy.3_Missense_Mutation_p.H156P|FTSJD1_uc002ezz.3_Missense_Mutation_p.H156P NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 156 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 TTTTAAGTAGTGGTTGAGACT 0.413 177 112 --- --- --- --- PASS AP1G1 164 broad.mit.edu 37 16 71795457 71795457 + Missense_Mutation SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:71795457T>C uc010cgg.2 - 10 1246 c.932A>G c.(931-933)AAT>AGT p.N311S AP1G1_uc002fba.2_Missense_Mutation_p.N314S|AP1G1_uc002fbb.2_Missense_Mutation_p.N334S|AP1G1_uc010vmg.1_RNA NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 311 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) ACCCAGGATATTTATGGCTAG 0.328 67 161 --- --- --- --- PASS DHX38 9785 broad.mit.edu 37 16 72142486 72142486 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:72142486C>A uc002fcb.2 + 23 3590 c.3235C>A c.(3235-3237)CAC>AAC p.H1079N DHX38_uc010vmp.1_Missense_Mutation_p.H391N NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1079 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) TGCCTATTTCCACCAAGCAGC 0.557 3 54 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76501333 76501333 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:76501333G>A uc002feu.1 + 12 1953 c.1568G>A c.(1567-1569)GGC>GAC p.G523D CNTNAP4_uc002fev.1_Missense_Mutation_p.G387D|CNTNAP4_uc010chb.1_Missense_Mutation_p.G450D|CNTNAP4_uc002fex.1_Missense_Mutation_p.G526D|CNTNAP4_uc002few.2_Missense_Mutation_p.G498D NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 523 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TCTATCAGCGGCAAAGTGGTA 0.443 4 53 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76532475 76532475 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:76532475C>A uc002feu.1 + 17 2634 c.2249C>A c.(2248-2250)ACT>AAT p.T750N CNTNAP4_uc002fev.1_Missense_Mutation_p.T614N|CNTNAP4_uc010chb.1_Missense_Mutation_p.T677N|CNTNAP4_uc002fex.1_Missense_Mutation_p.T753N NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 750 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 ACCAATGACACTGGATTGCTT 0.373 28 41 --- --- --- --- PASS ZNF276 92822 broad.mit.edu 37 16 89789138 89789138 + Silent SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:89789138C>G uc002fos.3 + 2 502 c.405C>G c.(403-405)GTC>GTG p.V135V C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.V60V|ZNF276_uc002foq.3_Silent_p.V60V|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 135 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCCGTTTGTCTGCAAGAGCT 0.642 44 115 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89838110 89838110 + Silent SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr16:89838110C>A uc002fou.1 - 23 2169 c.2127G>T c.(2125-2127)CCG>CCT p.P709P FANCA_uc010vpn.1_Silent_p.P709P NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 709 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCTCCAGTCTCGGCGTGTTGA 0.527 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 86 156 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr17:7577580T>C uc002gim.2 - 7 895 c.701A>G c.(700-702)TAC>TGC p.Y234C TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 234 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTAGTTGTAGTGGATGGT 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 37 --- --- --- --- PASS FLOT2 2319 broad.mit.edu 37 17 27208211 27208211 + Missense_Mutation SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr17:27208211T>A uc002hdc.2 - 9 1220 c.1097A>T c.(1096-1098)CAG>CTG p.Q366L NM_004475 NP_004466 Q14254 FLOT2_HUMAN flotillin 2 366 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AAGCCTCACCTGGGGCAGGGC 0.587 9 29 --- --- --- --- PASS SUZ12 23512 broad.mit.edu 37 17 30320963 30320963 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr17:30320963G>A uc002hgs.2 + 12 1595 c.1373G>A c.(1372-1374)CGC>CAC p.R458H SUZ12_uc002hgt.2_Missense_Mutation_p.R435H NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 458 C2H2-type. negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CTGAACTGCCGCAAACTTTAT 0.313 T JAZF1 endometrial stromal tumours 5 199 --- --- --- --- PASS PSMC5 5705 broad.mit.edu 37 17 61907223 61907223 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr17:61907223C>T uc002jcb.2 + 4 219 c.178C>T c.(178-180)CGG>TGG p.R60W FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R37W|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R52W|PSMC5_uc002jcd.2_Missense_Mutation_p.R52W NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 60 R -> Q (in a colorectal cancer sample; somatic mutation). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding p.R60Q(1) large_intestine(1) 1 TCGCCTATTGCGGGAGGAGCT 0.522 37 86 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8113488 8113488 + Missense_Mutation SNP T C C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr18:8113488T>C uc002knn.3 + 12 2364 c.1861T>C c.(1861-1863)TAT>CAT p.Y621H PTPRM_uc010dkv.2_Missense_Mutation_p.Y621H|PTPRM_uc010wzl.1_Missense_Mutation_p.Y408H NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 621 Fibronectin type-III 4.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TTCTAGTGTCTATCAAATAGT 0.393 29 142 --- --- --- --- PASS NOL4 8715 broad.mit.edu 37 18 31599521 31599521 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr18:31599521G>A uc010dmi.2 - 6 1046 c.817C>T c.(817-819)CAC>TAC p.H273Y NOL4_uc010xbs.1_5'UTR|NOL4_uc002kxr.3_Missense_Mutation_p.H109Y|NOL4_uc010xbt.1_Missense_Mutation_p.H199Y|NOL4_uc010dmh.2_Missense_Mutation_p.H199Y|NOL4_uc010xbu.1_Missense_Mutation_p.H273Y|NOL4_uc002kxt.3_Missense_Mutation_p.H273Y|NOL4_uc010xbv.1_Missense_Mutation_p.H22Y|NOL4_uc010xbw.1_Missense_Mutation_p.H159Y NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 273 nucleolus RNA binding ovary(3) 3 ATTGAACTGTGCCCCAGAGTC 0.438 39 106 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42530539 42530539 + Missense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr18:42530539G>T uc010dni.2 + 4 1530 c.1234G>T c.(1234-1236)GAT>TAT p.D412Y NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 412 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACCCTCTCTGGATCCAACCAA 0.483 Schinzel-Giedion_syndrome 30 74 --- --- --- --- PASS ST8SIA5 29906 broad.mit.edu 37 18 44284606 44284606 + Silent SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr18:44284606C>A uc002lcj.1 - 2 721 c.153G>T c.(151-153)GGG>GGT p.G51G ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc010xcy.1_Silent_p.G87G|ST8SIA5_uc010xcz.1_Intron|ST8SIA5_uc010dno.1_Silent_p.G87G NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 51 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 ATTCAAAAGGCCCCTCATAAA 0.512 79 177 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59221438 59221438 + Missense_Mutation SNP T A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr18:59221438T>A uc010dps.1 + 11 1928 c.1916T>A c.(1915-1917)ATT>AAT p.I639N CDH20_uc002lif.2_Missense_Mutation_p.I633N NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 639 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GTGTTGCTCATTTTGTCCATG 0.542 55 85 --- --- --- --- PASS ZNF136 7695 broad.mit.edu 37 19 12298583 12298583 + Silent SNP C A A rs149571290 TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr19:12298583C>A uc002mti.2 + 4 1490 c.1390C>A c.(1390-1392)CGA>AGA p.R464R ZNF136_uc010xmh.1_Silent_p.R398R NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 464 C2H2-type 12. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 CAACTCCTTTCGAACACATGA 0.393 3 87 --- --- --- --- PASS PLVAP 83483 broad.mit.edu 37 19 17476990 17476990 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr19:17476990G>A uc002ngk.1 - 2 434 c.384C>T c.(382-384)AAC>AAT p.N128N NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 128 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 ACCTCTGATTGTTCGTGTAGA 0.537 34 213 --- --- --- --- PASS LRRC25 126364 broad.mit.edu 37 19 18507431 18507431 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr19:18507431C>T uc002niw.2 - 1 985 c.343G>A c.(343-345)GAC>AAC p.D115N LRRC25_uc002nix.2_Missense_Mutation_p.D115N NM_145256 NP_660299 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 precursor 115 Extracellular (Potential). integral to membrane 0 CAGTTGCAGTCGGCCTGCAGG 0.632 28 49 --- --- --- --- PASS ZNF665 79788 broad.mit.edu 37 19 53668050 53668050 + Missense_Mutation SNP T G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr19:53668050T>G uc010eqm.1 - 4 1793 c.1693A>C c.(1693-1695)ACT>CCT p.T565P NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TTCTCACCAGTGTGAATTCTC 0.393 41 148 --- --- --- --- PASS LILRB3 11025 broad.mit.edu 37 19 54745537 54745537 + Splice_Site SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr19:54745537C>T uc002qej.1 - 4 c.696_splice c.e4+1 LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Silent_p.R191R|LILRA6_uc002qek.1_Silent_p.R191R|LILRB3_uc010erh.1_Intron|LILRA6_uc002qel.1_Silent_p.R191R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Silent_p.R191R|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.R191R|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.R191R|LILRA6_uc010yep.1_Silent_p.R191R|LILRA6_uc010yeq.1_Silent_p.R191R|LILRA6_uc002qet.3_Splice_Site|LILRA6_uc002qeu.1_Silent_p.R191R|LILRA6_uc002qev.1_Silent_p.R52R O75022 LIRB3_HUMAN Synthetic construct DNA, clone: pF1KB7252, Homo sapiens LILRA6 gene for leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6, without stop codon, in Flexi system. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGAACCTCCACCTGTGGCTGG 0.632 39 36 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31024614 31024614 + Missense_Mutation SNP G A A rs147456014 byFrequency TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr20:31024614G>A uc002wxs.2 + 12 4525 c.4099G>A c.(4099-4101)GTC>ATC p.V1367I ASXL1_uc010geb.2_Missense_Mutation_p.V1258I NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1367 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TGTTGGCAGCGTCAAGAATGA 0.537 F|N|Mis MDS|CMML 45 149 --- --- --- --- PASS C20orf177 63939 broad.mit.edu 37 20 58519998 58519998 + Missense_Mutation SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr20:58519998G>A uc002yba.2 + 5 1415 c.1000G>A c.(1000-1002)GAC>AAC p.D334N C20orf177_uc010zzx.1_Missense_Mutation_p.D177N|C20orf177_uc002ybc.2_Missense_Mutation_p.D334N NM_022106 NP_071389 Q9NTX9 CT177_HUMAN hypothetical protein LOC63939 334 ovary(2)|breast(1) 3 all_lung(29;0.00693) BRCA - Breast invasive adenocarcinoma(7;1.22e-08) TGTGATTCTGGACTCAGCAGA 0.527 30 58 --- --- --- --- PASS IFNGR2 3460 broad.mit.edu 37 21 34793789 34793789 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr21:34793789C>T uc002yrp.3 + 3 857 c.209C>T c.(208-210)ACC>ATC p.T70I IFNGR2_uc002yrq.3_Missense_Mutation_p.T89I|IFNGR2_uc010gma.2_5'UTR|IFNGR2_uc002yrr.3_5'UTR NM_005534 NP_005525 P38484 INGR2_HUMAN interferon gamma receptor 2 precursor 70 Extracellular (Potential).|Fibronectin type-III 1. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity 0 Interferon gamma-1b(DB00033) CTTCCCAGCACCGACAGTAAA 0.448 37 70 --- --- --- --- PASS MORC3 23515 broad.mit.edu 37 21 37747568 37747568 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr21:37747568C>A uc002yvi.2 + 17 2870 c.2794C>A c.(2794-2796)CAA>AAA p.Q932K NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 932 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 AGTTGTTGAACAAATGAGTGA 0.318 46 62 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18022266 18022266 + Nonsense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr22:18022266C>T uc010gqw.1 + 15 2494 c.2368C>T c.(2368-2370)CGA>TGA p.R790* CECR2_uc010gqv.1_Nonsense_Mutation_p.R649*|CECR2_uc002zml.2_Nonsense_Mutation_p.R649* NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 832 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) GATGGATTCCCGAGTCATGAG 0.602 22 101 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23263607 23263607 + RNA SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr22:23263607G>T uc011aim.1 + 378 c.16575G>T Parts of antibodies, mostly variable regions. 0 GACCGCCCTCGGTAAGTCTCC 0.582 27 51 --- --- --- --- PASS WDR45 11152 broad.mit.edu 37 X 48932917 48932917 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:48932917C>T uc004dmk.1 - 10 1023 c.851G>A c.(850-852)GGG>GAG p.G284E PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.G245E|WDR45_uc004dml.1_Missense_Mutation_p.G285E|WDR45_uc004dmm.1_Missense_Mutation_p.G249E|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Missense_Mutation_p.G175E|WDR45_uc004dmo.1_Missense_Mutation_p.G307E|WDR45_uc004dmp.1_Missense_Mutation_p.G285E NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 284 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 AATCATAGGCCCCACCTTGCC 0.622 14 3 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101911509 101911509 + Nonsense_Mutation SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:101911509G>T uc004ejj.3 + 5 3469 c.2668G>T c.(2668-2670)GGA>TGA p.G890* GPRASP1_uc004eji.3_Nonsense_Mutation_p.G890*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.G890* NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 890 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 TATACAGGCTGGATCTCAGGC 0.507 83 51 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995582 140995582 + Missense_Mutation SNP C T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:140995582C>T uc004fbt.2 + 4 2678 c.2392C>T c.(2392-2394)CCT>TCT p.P798S MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 798 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCATGAGAGTCCTCAGAGTCC 0.567 HNSCC(15;0.026) 171 121 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995591 140995591 + Missense_Mutation SNP C A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:140995591C>A uc004fbt.2 + 4 2687 c.2401C>A c.(2401-2403)CCT>ACT p.P801T MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 801 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGTCCTCCTGAGGG 0.562 HNSCC(15;0.026) 168 114 --- --- --- --- PASS PASD1 139135 broad.mit.edu 37 X 150840052 150840052 + Missense_Mutation SNP C G G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:150840052C>G uc004fev.3 + 13 1570 c.1238C>G c.(1237-1239)CCA>CGA p.P413R NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 413 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGAAGCAGCCAAACACATTA 0.502 10 220 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150911761 150911761 + Silent SNP G T T TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:150911761G>T uc004fey.1 + 7 1010 c.786G>T c.(784-786)CGG>CGT p.R262R NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 262 Extracellular (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTTTGACCGGACAGAGACAC 0.517 112 54 --- --- --- --- PASS L1CAM 3897 broad.mit.edu 37 X 153136336 153136336 + Silent SNP G A A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chrX:153136336G>A uc004fjb.2 - 6 711 c.603C>T c.(601-603)TCC>TCT p.S201S L1CAM_uc004fjc.2_Silent_p.S201S|L1CAM_uc010nuo.2_Silent_p.S196S|L1CAM_uc004fjd.1_Silent_p.S15S|L1CAM_uc004fje.1_Silent_p.S196S NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 201 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTGGTTGTCGGAGGTGAGCA 0.587 69 26 --- --- --- --- PASS FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT - - rs59413596 TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr11:47788664_47788669delGGTGGT uc009ylv.2 - 1 325_330 c.172_177delACCACC c.(172-177)ACCACCdel p.TT58del FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58_59 ovary(1) 1 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 5 3 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49422520 49422520 + Frame_Shift_Del DEL G - - TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 818a6f09-a7fd-4cce-8373-adb4bcb5bc8c dbe683e0-334a-4f6e-ba93-f656948ecda2 g.chr19:49422520delG uc002plb.3 + 10 1051 c.979delG c.(979-981)GGGfs p.G327fs NUCB1_uc002pla.2_Frame_Shift_Del_p.G327fs|NUCB1_uc002plc.2_Frame_Shift_Del_p.G327fs|NUCB1_uc002pld.2_5'UTR NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 327 EF-hand 2. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GAAGGAGTTTGGGGACACCGG 0.582 63 58 --- --- --- ---