Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MYOM3 127294 broad.mit.edu 37 1 24419571 24419571 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:24419571C>A uc001bin.3 - 10 1119 c.956G>T c.(955-957)CGG>CTG p.R319L MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.R319L|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 319 Ig-like C2-type 2. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GAGGATCTTCCGACGTCTCGA 0.622 NA 18 3 6.33239e-15 9.59909e-15 0.010504 1 0 ZMYM1 79830 broad.mit.edu 37 1 35570213 35570213 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:35570213G>T uc001bym.2 + 7 798 c.650G>T c.(649-651)TGC>TTC p.C217F ZMYM1_uc009vus.1_RNA|ZMYM1_uc001byn.2_Missense_Mutation_p.C217F|ZMYM1_uc010ohu.1_Missense_Mutation_p.C217F|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.C142F NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 217 MYM-type 3. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTAATGCCTGCCTTTCAAAG 0.358 NA 29 10 6.07407e-21 1.00013e-20 0.007291 1 0 PGM1 5236 broad.mit.edu 37 1 64114274 64114274 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:64114274G>C uc001dbh.2 + 8 1444 c.1231G>C c.(1231-1233)GAC>CAC p.D411H PGM1_uc010ooy.1_Missense_Mutation_p.D214H|PGM1_uc010ooz.1_Missense_Mutation_p.D429H NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 411 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 GAGTGTGGAGGACATTCTCAA 0.562 NA 3 44 0 0 0.004672 0 0 CELF3 11189 broad.mit.edu 37 1 151677546 151677546 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:151677546G>T uc001eys.1 - 12 2163 c.1369C>A c.(1369-1371)CGG>AGG p.R457R CELF3_uc010pdh.1_Silent_p.R243R|CELF3_uc001eyr.2_Silent_p.R456R|CELF3_uc009wmy.2_Silent_p.R407R|CELF3_uc009wmx.1_Silent_p.R456R NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 457 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 TCCTTAGGCCGCTTTAGCTGG 0.632 NA 25 36 2.41591e-17 3.84532e-17 0.004656 1 0 RXFP4 339403 broad.mit.edu 37 1 155912009 155912009 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:155912009C>A uc010pgs.1 + 1 530 c.509C>A c.(508-510)GCC>GAC p.A170D NM_181885 NP_871001 Q8TDU9 RL3R2_HUMAN relaxin 3 receptor 2 170 Helical; Name=4; (Potential). integral to membrane|plasma membrane angiotensin type II receptor activity 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCGGCGGCTGCCCTGGTGACG 0.682 NA 22 76 3.28513e-13 4.75348e-13 0.021523 1 0 SPTA1 6708 broad.mit.edu 37 1 158605807 158605807 + Silent SNP T T A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:158605807T>A uc001fst.1 - 38 5527 c.5328A>T c.(5326-5328)GCA>GCT p.A1776A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1776 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCAGCTTCTCTGCCATATCCA 0.507 NA 88 126 0 0 0.01441 0 0 OR6N2 81442 broad.mit.edu 37 1 158747003 158747003 + Missense_Mutation SNP A A C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:158747003A>C uc010pir.1 - 1 423 c.423T>G c.(421-423)TGT>TGG p.C141W NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) CCATCTTGGCACAGAGTGTGG 0.502 NA 16 59 0 0 0.006122 0 0 HMCN1 83872 broad.mit.edu 37 1 185985107 185985107 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:185985107G>T uc001grq.1 + 32 5156 c.4927G>T c.(4927-4929)GGC>TGC p.G1643C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1643 Ig-like C2-type 14. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AATGATTGAAGGCAACTTGGC 0.403 NA 38 50 5.73237e-09 7.55091e-09 0.00623 1 0 TMEM81 388730 broad.mit.edu 37 1 205052919 205052919 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:205052919C>A uc001hbt.2 - 1 670 c.530G>T c.(529-531)GGG>GTG p.G177V NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 177 Extracellular (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) GACCCTCAACCCAAAATAGAG 0.418 NA 26 40 1.42536e-11 1.95858e-11 0.004656 1 0 KCNH1 3756 broad.mit.edu 37 1 211276891 211276891 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:211276891G>A uc001hib.2 - 3 427 c.257C>T c.(256-258)ACA>ATA p.T86I KCNH1_uc001hic.2_Missense_Mutation_p.T86I NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 86 Cytoplasmic (Potential).|PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTTCTCAAATGTTTGCCGCAC 0.333 NA 15 57 0 0 0.00499 0 0 C1orf65 164127 broad.mit.edu 37 1 223567018 223567018 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:223567018C>A uc001hoa.2 + 1 304 c.201C>A c.(199-201)ACC>ACA p.T67T NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 67 central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GTTCGTTCACCCCGCGGCCTC 0.721 NA 10 12 6.40141e-05 7.27779e-05 0.010729 1 0 OBSCN 84033 broad.mit.edu 37 1 228554800 228554800 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:228554800G>T uc009xez.1 + 86 19596 c.19552G>T c.(19552-19554)GCG>TCG p.A6518S OBSCN_uc001hsr.1_Missense_Mutation_p.A1147S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6518 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CATCCTGGCCGCGCTGAGCCA 0.612 NA 5 6 4.096e-09 5.43289e-09 0.001168 1 0 MTR 4548 broad.mit.edu 37 1 237057847 237057847 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:237057847G>T uc001hyi.3 + 30 3818 c.3395G>T c.(3394-3396)CGG>CTG p.R1132L MTR_uc010pxw.1_Missense_Mutation_p.R725L|MTR_uc010pxx.1_Missense_Mutation_p.R1081L|MTR_uc010pxy.1_Missense_Mutation_p.R986L NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1132 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CTGGGGGACCGGCTGGCAGAG 0.607 NA 13 28 2.62699e-14 3.91996e-14 0.003163 1 0 OR2T2 401992 broad.mit.edu 37 1 248616264 248616264 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr1:248616264C>A uc001iek.1 + 1 166 c.166C>A c.(166-168)CTC>ATC p.L56I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 56 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACTCCCGCCTCCACACACC 0.512 NA 4 86 5.9392e-07 7.56258e-07 0.001168 1 0 CUBN 8029 broad.mit.edu 37 10 16982064 16982064 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:16982064T>C uc001ioo.2 - 37 5567 c.5515A>G c.(5515-5517)AGC>GGC p.S1839G NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1839 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCCGTGCCGCTGCCAGAACCA 0.413 NA 116 39 0 0 0.01441 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874156 24874156 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:24874156G>A uc001isb.2 - 26 5549 c.5062C>T c.(5062-5064)CGG>TGG p.R1688W ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1687 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 AGCTGTCTCCGGCTATCTAAA 0.428 NA 17 40 0 0 0.01892 0 0 ZEB1 6935 broad.mit.edu 37 10 31815998 31815998 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:31815998G>T uc001ivs.3 + 9 3244 c.3181G>T c.(3181-3183)GGG>TGG p.G1061W ZEB1_uc001ivr.3_Missense_Mutation_p.G843W|ZEB1_uc010qee.1_Missense_Mutation_p.G843W|ZEB1_uc010qef.1_Missense_Mutation_p.G843W|ZEB1_uc001ivt.3_Missense_Mutation_p.G843W|ZEB1_uc001ivu.3_Missense_Mutation_p.G1062W|ZEB1_uc001ivv.3_Missense_Mutation_p.G1041W|ZEB1_uc010qeh.1_Missense_Mutation_p.G994W|ZEB1_uc009xlp.2_Missense_Mutation_p.G1045W NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 1061 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) aaaaccacaaggggatgagga 0.1 Ovarian(40;423 959 14296 36701 49589) NA 10 5 9.70103e-10 1.29573e-09 0.008291 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343661 38343661 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:38343661T>C uc001izh.2 + 5 784 c.606T>C c.(604-606)CAT>CAC p.H202H ZNF33A_uc001izg.2_Silent_p.H203H|ZNF33A_uc010qev.1_Silent_p.H209H|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 202 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TGAGTCATCATGAGGAGACTT 0.348 NA 19 65 0 0 0.008871 0 0 C10orf84 63877 broad.mit.edu 37 10 120095077 120095077 + Missense_Mutation SNP C C T rs148686616 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr10:120095077C>T uc001ldo.2 - 4 578 c.311G>A c.(310-312)CGC>CAC p.R104H C10orf84_uc010qss.1_Missense_Mutation_p.R104H NM_022063 NP_071346 Q9H8W3 F204A_HUMAN hypothetical protein LOC63877 104 0 Colorectal(252;0.101) all cancers(201;0.0244) TTTTCTGGAGCGTTTTCTTCT 0.303 NA 22 12 0 0 0.014323 0 0 OR56A3 390083 broad.mit.edu 37 11 5968696 5968696 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:5968696C>A uc010qzt.1 + 1 120 c.120C>A c.(118-120)CTC>CTA p.L40L NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 40 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;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTTTTCCTCTTGGCCGTAG 0.597 NA 62 18 6.52717e-41 1.29863e-40 0.01441 1 0 TRIM3 10612 broad.mit.edu 37 11 6477727 6477727 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:6477727C>A uc001mdh.2 - 7 1616 c.1229G>T c.(1228-1230)CGC>CTC p.R410L TRIM3_uc001mdi.2_Missense_Mutation_p.R410L|TRIM3_uc010raj.1_Missense_Mutation_p.R291L|TRIM3_uc009yfd.2_Missense_Mutation_p.R410L|TRIM3_uc010rak.1_Missense_Mutation_p.R410L|TRIM3_uc001mdj.2_Missense_Mutation_p.R291L NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 410 Filamin. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGCTGCCGCGCACTGGCTG 0.677 Melanoma(6;5 510 1540 25169 29084) NA 14 5 4.93089e-13 7.0812e-13 0.020292 1 0 AMBRA1 55626 broad.mit.edu 37 11 46419198 46419198 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:46419198C>A uc010rgu.1 - 18 4059 c.3699G>T c.(3697-3699)TGG>TGT p.W1233C AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.W1204C|AMBRA1_uc001ncu.1_Missense_Mutation_p.W1143C|AMBRA1_uc001ncv.2_Missense_Mutation_p.W1236C|AMBRA1_uc001ncw.2_Missense_Mutation_p.W1114C|AMBRA1_uc001ncx.2_Missense_Mutation_p.W1173C NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 1233 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CAGGCTGGTCCCAGGAAGCTG 0.687 NA 17 5 3.32936e-07 4.26784e-07 0.006122 1 0 OR4X2 119764 broad.mit.edu 37 11 48267190 48267190 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:48267190C>A uc001ngs.1 + 1 535 c.535C>A c.(535-537)CTT>ATT p.L179I NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTTCTCAAACTTGCCTGCTC 0.478 NA 87 72 2.5963e-48 5.33219e-48 0.01441 1 0 OR8J3 81168 broad.mit.edu 37 11 55904448 55904448 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:55904448C>A uc010riz.1 - 1 747 c.747G>T c.(745-747)ACG>ACT p.T249T NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CATAGAAAACCGTGACTGCTA 0.398 NA 29 21 3.65163e-15 5.62469e-15 0.00632 1 0 C11orf9 745 broad.mit.edu 37 11 61533653 61533653 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:61533653C>A uc001nsc.1 + 3 454 c.358C>A c.(358-360)CCC>ACC p.P120T C11orf9_uc001nse.1_Missense_Mutation_p.P111T NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 120 Pro-rich. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GGGCACCGGGCCCCCCATCAA 0.547 NA 10 20 1.3612e-06 1.69928e-06 0.003163 1 0 C11orf30 56946 broad.mit.edu 37 11 76162966 76162966 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:76162966G>T uc001oxl.2 + 3 278 c.135G>T c.(133-135)AAG>AAT p.K45N C11orf30_uc001oxj.2_Missense_Mutation_p.K45N|C11orf30_uc001oxk.2_Missense_Mutation_p.K45N|C11orf30_uc009yuj.1_Missense_Mutation_p.K45N|C11orf30_uc010rsa.1_Missense_Mutation_p.K45N|C11orf30_uc001oxm.2_Missense_Mutation_p.K45N|C11orf30_uc010rsb.1_Missense_Mutation_p.K45N|C11orf30_uc010rsc.1_Missense_Mutation_p.K45N|C11orf30_uc001oxn.2_Missense_Mutation_p.K45N|C11orf30_uc010rsd.1_Missense_Mutation_p.K45N NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 45 Interaction with BRCA2.|ENT. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CCAAGGAAAAGAAAGATCTTC 0.348 NA 17 12 8.10497e-08 1.0531e-07 0.010504 1 0 LRRC32 2615 broad.mit.edu 37 11 76372262 76372262 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:76372262G>A uc001oxq.3 - 3 618 c.375C>T c.(373-375)CGC>CGT p.R125R LRRC32_uc001oxr.3_Silent_p.R125R|LRRC32_uc010rsf.1_Silent_p.R125R NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 125 Extracellular (Potential).|LRR 4. integral to plasma membrane 0 GGGAGGTCACGCGTGGCAGGG 0.692 NA 32 34 0 0 0.017118 0 0 DLG2 1740 broad.mit.edu 37 11 83170879 83170879 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:83170879G>T uc001paj.2 - 23 2898 c.2595C>A c.(2593-2595)CCC>CCA p.P865P DLG2_uc001pai.2_Silent_p.P744P|DLG2_uc010rsy.1_Silent_p.P814P|DLG2_uc010rsz.1_Silent_p.P861P|DLG2_uc010rta.1_Silent_p.P847P|DLG2_uc001pak.2_Silent_p.P970P|DLG2_uc010rsw.1_Silent_p.P329P|DLG2_uc010rsx.1_Silent_p.P342P NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 865 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTTCCTTTGAGGGAATCCAGA 0.353 NA 19 46 2.37509e-13 3.46292e-13 0.010504 1 0 DLG2 1740 broad.mit.edu 37 11 83177805 83177805 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:83177805G>T uc001paj.2 - 21 2663 c.2360C>A c.(2359-2361)GCC>GAC p.A787D DLG2_uc001pai.2_Missense_Mutation_p.A666D|DLG2_uc010rsy.1_Missense_Mutation_p.A736D|DLG2_uc010rsz.1_Missense_Mutation_p.A783D|DLG2_uc010rta.1_Missense_Mutation_p.A769D|DLG2_uc001pak.2_Missense_Mutation_p.A892D|DLG2_uc010rtb.1_Missense_Mutation_p.A754D|DLG2_uc010rsw.1_Missense_Mutation_p.A251D|DLG2_uc010rsx.1_Missense_Mutation_p.A264D NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 787 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ATAGAGCTGGGCAACTTGTAA 0.433 NA 19 64 1.45105e-14 2.18229e-14 0.006122 1 0 TRIM49 57093 broad.mit.edu 37 11 89531774 89531774 + Nonsense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:89531774C>A uc001pdb.2 - 8 1212 c.883G>T c.(883-885)GAA>TAA p.E295* NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 295 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTGTTGGCTTCTTCATGATGC 0.308 NA 8 19 1.06961e-07 1.38038e-07 0.00308 1 0 FAT3 120114 broad.mit.edu 37 11 92534753 92534753 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:92534753G>T uc001pdj.3 + 9 8591 c.8574G>T c.(8572-8574)CAG>CAT p.Q2858H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2858 Cadherin 26.|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) CGGATTCCCAGCCCGAAAAGG 0.498 NA TCGA Ovarian(4;0.039) 4 2 0.00909568 0.00954547 0.009096 1 0 MMP13 4322 broad.mit.edu 37 11 102816458 102816458 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:102816458A>G uc001phl.2 - 9 1260 c.1232T>C c.(1231-1233)ATT>ACT p.I411T NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 411 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTTATCCATAATATGGTTAGT 0.303 NA 18 42 0 0 0.010504 0 0 DDI1 414301 broad.mit.edu 37 11 103907704 103907704 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:103907704C>A uc001phr.2 + 1 397 c.154C>A c.(154-156)CGA>AGA p.R52R PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 52 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCACATGGAGCGACTCCTCAT 0.572 NA 62 25 5.10508e-28 9.28639e-28 0.01441 1 0 ATM 472 broad.mit.edu 37 11 108153446 108153446 + Nonsense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:108153446A>T uc001pkb.1 + 25 3971 c.3586A>T c.(3586-3588)AAA>TAA p.K1196* ATM_uc009yxr.1_Nonsense_Mutation_p.K1196* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1196 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGTTTTAGAGAAAGTTTCTGA 0.289 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 47 18 0 0 0.01441 0 0 TMEM225 338661 broad.mit.edu 37 11 123756006 123756006 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:123756006C>T uc001pzi.2 - 1 335 c.127G>A c.(127-129)GCC>ACC p.A43T NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 43 integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 TTCATCTTGGCTCTTTCATCT 0.463 NA 25 46 0 0 0.008361 0 0 NANOG 79923 broad.mit.edu 37 12 7942298 7942298 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:7942298G>A uc009zfy.1 + 1 304 c.88G>A c.(88-90)GGG>AGG p.G30R NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 30 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) TGTGATTTGTGGGCCTGAAGA 0.448 NA 43 78 0 0 0.013114 0 0 PZP 5858 broad.mit.edu 37 12 9305844 9305844 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:9305844C>T uc001qvl.2 - 30 3899 c.3870G>A c.(3868-3870)CAG>CAA p.Q1290Q PZP_uc009zgl.2_Silent_p.Q1076Q NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TAGAAAAGGTCTGTGAATCCT 0.478 Melanoma(125;1402 1695 4685 34487 38571) NA 30 85 0 0 0.009535 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 10 1.49906e-05 1.76741e-05 0.020292 1 0 MLL2 8085 broad.mit.edu 37 12 49419995 49419995 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:49419995C>A uc001rta.3 - 48 15754 c.15754G>T c.(15754-15756)GAC>TAC p.D5252Y NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5252 FYR C-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AAGACCAGGTCCTCCAGGCCC 0.537 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 10 58 2.17888e-05 2.55316e-05 0.006214 1 0 DPY19L2 283417 broad.mit.edu 37 12 64061909 64061909 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:64061909G>T uc001srp.1 - 1 446 c.265C>A c.(265-267)CTG>ATG p.L89M DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 89 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AGCTGCGCCAGGGAATTACGG 0.607 NA 74 52 1.45978e-39 2.87441e-39 0.01441 1 0 NTN4 59277 broad.mit.edu 37 12 96107067 96107067 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:96107067T>C uc001tei.2 - 4 1363 c.914A>G c.(913-915)CAG>CGG p.Q305R NTN4_uc009ztf.2_Missense_Mutation_p.Q305R|NTN4_uc009ztg.2_Missense_Mutation_p.Q268R NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 305 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 GGCACAGTGCTGGCAGTGGCT 0.522 NA 11 38 0 0 0.010729 0 0 RASAL1 8437 broad.mit.edu 37 12 113554954 113554954 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr12:113554954G>T uc001tum.1 - 9 948 c.655C>A c.(655-657)CCA>ACA p.P219T RASAL1_uc010syp.1_Missense_Mutation_p.P219T|RASAL1_uc001tul.2_Missense_Mutation_p.P219T|RASAL1_uc001tun.1_Missense_Mutation_p.P219T|RASAL1_uc010syq.1_Missense_Mutation_p.P219T|RASAL1_uc001tuo.3_Missense_Mutation_p.P219T|RASAL1_uc010syr.1_Missense_Mutation_p.P219T NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 219 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 AGGGTCTTTGGAGAGAACTCC 0.612 NA 25 16 1.2476e-16 1.95321e-16 0.00632 1 0 NUFIP1 26747 broad.mit.edu 37 13 45523952 45523952 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr13:45523952G>T uc001uzp.2 - 8 1085 c.1043C>A c.(1042-1044)CCA>CAA p.P348Q NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein 348 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding 0 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) AGAATGTTGTGGTTTCTCCTC 0.448 NA 3 33 0.004672 0.00498521 0.004672 1 0 FAM70B 348013 broad.mit.edu 37 13 114507949 114507949 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr13:114507949G>T uc001vuh.2 + 8 788 c.761G>T c.(760-762)CGC>CTC p.R254L NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 254 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GCAGGCTTCCGCCTGACGCCC 0.677 NA 36 7 6.2361e-21 1.01803e-20 0.007835 1 0 MYH7 4625 broad.mit.edu 37 14 23894904 23894904 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:23894904C>G uc001wjx.2 - 20 2392 c.2286G>C c.(2284-2286)AAG>AAC p.K762N NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 762 Actin-binding.|Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTTCCTCACCTTGGTGTGGC 0.448 NA 34 60 0 0 0.017118 0 0 SEC23A 10484 broad.mit.edu 37 14 39560913 39560913 + Missense_Mutation SNP C C A rs148560912 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:39560913C>A uc001wup.1 - 5 594 c.371G>T c.(370-372)GGT>GTT p.G124V SEC23A_uc010tqa.1_5'UTR|SEC23A_uc010tqb.1_Missense_Mutation_p.G95V|SEC23A_uc010tqc.1_5'UTR NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 124 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CATCTGAGGACCACGCTTTTA 0.343 NA 35 34 9.45814e-24 1.64228e-23 0.021022 1 0 SDCCAG1 9147 broad.mit.edu 37 14 50272777 50272777 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:50272777G>T uc001wxc.2 - 19 1887 c.1819C>A c.(1819-1821)CGA>AGA p.R607R SDCCAG1_uc010anj.1_Silent_p.R607R|SDCCAG1_uc010tqi.1_Silent_p.R586R|SDCCAG1_uc001wxe.2_Silent_p.R565R|SDCCAG1_uc001wxd.1_Silent_p.R12R NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 607 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) GTGATAACTCGTGCATCCCAA 0.388 NA 24 20 9.90768e-06 1.19017e-05 0.004656 1 0 ACOT2 10965 broad.mit.edu 37 14 74036534 74036534 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:74036534G>C uc001xon.3 + 1 763 c.590G>C c.(589-591)CGG>CCG p.R197P ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron NM_006821 NP_006812 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 197 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CCCGGGGTGCGGCGCGAGCCG 0.697 NA 13 7 0 0 0.016723 0 0 OR4M2 390538 broad.mit.edu 37 15 22369186 22369186 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:22369186G>T uc010tzu.1 + 1 611 c.611G>T c.(610-612)GGT>GTT p.G204V 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, 204 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) TGTAGTAGTGGTCTGATCTCT 0.468 NA 77 30 2.02726e-29 3.79615e-29 0.01441 1 0 TMOD3 29766 broad.mit.edu 37 15 52188673 52188673 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:52188673G>A uc002abm.2 + 7 904 c.685G>A c.(685-687)GTG>ATG p.V229M TMOD3_uc010bfc.1_RNA NM_014547 NP_055362 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 229 cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 all cancers(107;0.00194) CAACACACATGTGAAATGTTT 0.383 Colon(122;1837 2251 18387 22826) NA 24 34 0 0 0.021523 0 0 PCSK6 5046 broad.mit.edu 37 15 101865129 101865129 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr15:101865129C>T uc002bwy.2 - 18 2617 c.2303G>A c.(2302-2304)CGC>CAC p.R768H PCSK6_uc010bpd.2_Missense_Mutation_p.R564H|PCSK6_uc010bpe.2_Missense_Mutation_p.R755H|PCSK6_uc002bxa.2_Missense_Mutation_p.R768H|PCSK6_uc002bxb.2_Missense_Mutation_p.R755H NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 768 CRM (Cys-rich motif). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GAACCCGCGGCGGCAAGACAG 0.567 NA 7 30 0 0 0.00308 0 0 ABCA3 21 broad.mit.edu 37 16 2338079 2338079 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:2338079C>A uc002cpy.1 - 21 3664 c.2952G>T c.(2950-2952)GAG>GAT p.E984D ABCA3_uc010bsk.1_Missense_Mutation_p.E926D NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 984 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CTTTCAGATGCTCTGACAGCT 0.677 NA 5 7 1.23904e-05 1.46992e-05 0.014758 1 0 OR2C1 4993 broad.mit.edu 37 16 3406340 3406340 + Missense_Mutation SNP G G A rs147461021 byFrequency TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:3406340G>A uc002cuw.1 + 1 452 c.400G>A c.(400-402)GCC>ACC p.A134T NM_012368 NP_036500 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCGCTACACCGCCATCATGAA 0.612 NA 14 27 0 0 0.007413 0 0 C16orf71 146562 broad.mit.edu 37 16 4790576 4790576 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:4790576G>A uc002cxn.2 + 4 1161 c.699G>A c.(697-699)GCG>GCA p.A233A NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 233 central_nervous_system(1) 1 TGAAGGAGGCGCCCTGCCACG 0.637 NA 10 16 0 0 0.010729 0 0 ABCC11 85320 broad.mit.edu 37 16 48256677 48256677 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:48256677C>A uc002eff.1 - 5 959 c.609G>T c.(607-609)GTG>GTT p.V203V ABCC11_uc002efg.1_Silent_p.V203V|ABCC11_uc002efh.1_Silent_p.V203V|ABCC11_uc010vgl.1_Silent_p.V203V NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 203 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCAGAGTCCCACTCCATGGA 0.458 NA Cerumen_Type 9 23 3.86212e-05 4.44376e-05 0.008291 1 0 PLEKHG4 25894 broad.mit.edu 37 16 67322099 67322099 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:67322099G>T uc002eso.3 + 19 5785 c.3250G>T c.(3250-3252)GCC>TCC p.A1084S PLEKHG4_uc002esp.3_Missense_Mutation_p.A891S|PLEKHG4_uc002esq.3_Missense_Mutation_p.A1084S|PLEKHG4_uc010cef.2_Missense_Mutation_p.A1084S|PLEKHG4_uc002ess.3_Missense_Mutation_p.A1084S|PLEKHG4_uc010ceg.2_Missense_Mutation_p.A1003S NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 1084 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CATTGCCGTAGCCCCGTTTGA 0.607 NA 18 61 1.01871e-10 1.37024e-10 0.008871 1 0 IRF8 3394 broad.mit.edu 37 16 85946755 85946755 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr16:85946755A>G uc002fjh.2 + 5 523 c.466A>G c.(466-468)ATG>GTG p.M156V IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 156 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) GGACGATTACATGGGGATGAT 0.602 NA 32 60 0 0 0.021022 0 0 SPNS3 201305 broad.mit.edu 37 17 4337281 4337281 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:4337281G>T uc002fxt.2 + 1 63 c.19G>T c.(19-21)GCG>TCG p.A7S SPNS3_uc002fxu.2_5'UTR NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 7 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 GGGGATGTCAGCGGAGTGCCC 0.667 NA 6 8 8.12818e-05 9.13225e-05 0.001984 1 0 PIK3R5 23533 broad.mit.edu 37 17 8791618 8791618 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:8791618C>T uc002glt.2 - 10 1553 c.1486G>A c.(1486-1488)GCT>ACT p.A496T PIK3R5_uc010vuz.1_Missense_Mutation_p.A496T|PIK3R5_uc002glu.3_Missense_Mutation_p.A110T|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Missense_Mutation_p.A110T NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 496 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GGGCGTGAAGCAGGGGCCAGA 0.662 NSCLC(18;589 615 7696 20311 50332) NA 16 28 0 0 0.004007 0 0 MYH13 8735 broad.mit.edu 37 17 10212976 10212976 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:10212976G>A uc002gmk.1 - 34 4918 c.4828C>T c.(4828-4830)CGC>TGC p.R1610C NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1610 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TTCCGGCTGCGGATTTCAGCA 0.552 NA 6 11 0 0 0.001168 0 0 MYH2 4620 broad.mit.edu 37 17 10426814 10426814 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:10426814C>T uc010coi.2 - 37 5599 c.5471G>A c.(5470-5472)AGG>AAG p.R1824K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1824K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1824 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GAGACCCACCCTGGCCTCCAG 0.517 NA 22 42 0 0 0.014323 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072791 34072791 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:34072791G>T uc002hjv.1 - 6 1753 c.1725C>A c.(1723-1725)TCC>TCA p.S575S NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 575 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGGTCCCAGGACTCTCTGG 0.612 NA 22 79 5.45024e-15 8.32797e-15 0.01892 1 0 MLLT6 4302 broad.mit.edu 37 17 36873066 36873066 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:36873066G>T uc002hqi.3 + 10 1496 c.1483G>T c.(1483-1485)GCC>TCC p.A495S MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 495 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) GGGCCCAGCTGCCCCATCCTT 0.662 NA T MLL AL 5 25 3.59834e-05 4.16535e-05 0.001168 1 0 KRT12 3859 broad.mit.edu 37 17 39021155 39021155 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:39021155C>T uc002hvk.2 - 3 734 c.710G>A c.(709-711)CGG>CAG p.R237Q NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 237 Rod.|Coil 1B. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GTCCAGCACCCGGCGCAGGCC 0.572 NA 36 114 0 0 0.021022 0 0 BECN1 8678 broad.mit.edu 37 17 40962818 40962818 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:40962818C>A uc002ibo.3 - 12 1448 c.1313G>T c.(1312-1314)TGG>TTG p.W438L CNTD1_uc002ibm.3_3'UTR|CNTD1_uc010wha.1_3'UTR|BECN1_uc010whb.1_Missense_Mutation_p.W351L|BECN1_uc010whc.1_3'UTR|BECN1_uc002ibn.2_Missense_Mutation_p.W438L NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 438 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) AGCAAGACCCCACTTAAGATT 0.428 NA 22 80 1.64293e-13 2.41385e-13 0.01892 1 0 WNT9B 7484 broad.mit.edu 37 17 44950100 44950100 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:44950100A>T uc002ikw.1 + 2 332 c.295A>T c.(295-297)AAC>TAC p.N99Y WNT9B_uc002ikx.1_Missense_Mutation_p.N99Y NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 99 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) TGAGCGCTGGAACTGTAGCCT 0.672 NA 4 24 0 0 0.014758 0 0 ABI3 51225 broad.mit.edu 37 17 47299555 47299555 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:47299555C>A uc002iop.1 + 7 1403 c.905C>A c.(904-906)CCC>CAC p.P302H ABI3_uc002ioq.1_Missense_Mutation_p.P296H NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN NESH protein isoform 1 302 Pro-rich. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CCTGATGAGCCCAGCTGGGTG 0.612 NA HNSCC(55;0.14) 70 33 1.74474e-33 3.40047e-33 0.01441 1 0 DNAH17 8632 broad.mit.edu 37 17 76503840 76503840 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:76503840G>A uc010wtu.1 - 2 336 c.159C>T c.(157-159)CAC>CAT p.H53H full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human). ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTGCGGCTCGTGCTGGAATT 0.552 NA 4 10 0 0 0.014758 0 0 ZNF521 25925 broad.mit.edu 37 18 22804516 22804516 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr18:22804516C>T uc002kvk.2 - 4 3613 c.3366G>A c.(3364-3366)GAG>GAA p.E1122E ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.E1122E|ZNF521_uc002kvl.2_Silent_p.E902E NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1122 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CACTCAGATTCTCATTCTGGC 0.547 NA T PAX5 ALL 22 16 0 0 0.016522 0 0 ZNF532 55205 broad.mit.edu 37 18 56651409 56651409 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr18:56651409G>T uc002lho.2 + 11 4164 c.3617G>T c.(3616-3618)CGG>CTG p.R1206L ZNF532_uc002lhp.2_Missense_Mutation_p.R1204L|ZNF532_uc010xeg.1_Missense_Mutation_p.R1204L|ZNF532_uc002lhr.2_Missense_Mutation_p.R1204L|ZNF532_uc002lhs.2_Missense_Mutation_p.R1204L|ZNF532_uc010xeh.1_Missense_Mutation_p.R294L NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1206 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TACCAGTGCCGGGAGTGTGGC 0.532 NA 3 35 0.004672 0.00498521 0.004672 1 0 SPPL2B 56928 broad.mit.edu 37 19 2337525 2337525 + Silent SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:2337525C>A uc002lvs.2 + 3 350 c.270C>A c.(268-270)ATC>ATA p.I90I SPPL2B_uc010dsw.1_Silent_p.I62I|SPPL2B_uc010dsy.1_Silent_p.I62I|SPPL2B_uc010dsz.1_Silent_p.I90I|SPPL2B_uc002lvr.2_Silent_p.I90I|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 90 Cytoplasmic (Potential).|PA. Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAACCAGATCCCGCTGGTGG 0.672 NA 38 9 9.85913e-13 1.40529e-12 0.009718 1 0 ACER1 125981 broad.mit.edu 37 19 6306758 6306758 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:6306758G>T uc002mel.2 - 6 840 c.762C>A c.(760-762)TAC>TAA p.Y254* NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 254 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ceramidase activity 0 GGATTTCCACGTAGGGCAGCC 0.577 NA 13 3 2.23348e-06 2.73459e-06 0.004007 1 0 CCNE1 898 broad.mit.edu 37 19 30314605 30314606 + Missense_Mutation DNP GG GG CT TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:30314605_30314606GG>CT uc002nsn.2 + 12 1337_1338 c.1154_1155GG>CT c.(1153-1155)AGG>ACT p.R385T CCNE1_uc002nso.2_Missense_Mutation_p.R370T|CCNE1_uc002nsp.2_Missense_Mutation_p.R132T NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 385 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) GAACAAAATAGGGCTTCTCCTC 0.525 NA 17 39 0 0 0.004672 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770491 31770491 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:31770491G>T uc002nsy.3 - 2 273 c.208C>A c.(208-210)CAT>AAT p.H70N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 70 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TCCATTTCATGGCAGGAAAAC 0.592 NA 8 17 0.000157383 0.000174769 0.00308 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55331209 55331209 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:55331209C>T uc002qhk.3 + 4 460 c.397C>T c.(397-399)CTG>TTG p.L133L KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.L75L|KIR3DL1_uc010esf.2_Silent_p.L38L|KIR3DL1_uc010yfo.1_Silent_p.L75L|KIR3DL1_uc002qhl.3_Silent_p.L133L NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 133 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity p.L133Q(1) ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) CCCAGGTCCCCTGGTGAAATC 0.488 NA 40 29 0 0 0.01441 0 0 NLRP8 126205 broad.mit.edu 37 19 56466759 56466759 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:56466759G>A uc002qmh.2 + 3 1406 c.1335G>A c.(1333-1335)AAG>AAA p.K445K NLRP8_uc010etg.2_Silent_p.K445K NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 445 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTTCCAGAAAGATCCACCAAG 0.483 NA 25 33 0 0 0.004656 0 0 PDIA6 10130 broad.mit.edu 37 2 10927471 10927471 + Missense_Mutation SNP G G A rs138012463 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:10927471G>A uc002rau.2 - 11 1231 c.1093C>T c.(1093-1095)CGC>TGC p.R365C PDIA6_uc010yjg.1_Missense_Mutation_p.R362C|PDIA6_uc002rav.2_Missense_Mutation_p.R417C|PDIA6_uc010yjh.1_Missense_Mutation_p.R370C|PDIA6_uc002raw.2_Missense_Mutation_p.R413C NM_005742 NP_005733 Q15084 PDIA6_HUMAN protein disulfide isomerase A6 precursor 365 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) TTCATCTTGCGTGCATTGATG 0.493 GBM(73;509 1219 34219 41343 41551) NA 39 64 0 0 0.00623 0 0 DDX1 1653 broad.mit.edu 37 2 15742716 15742716 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:15742716G>T uc002rce.2 + 7 640 c.352G>T c.(352-354)GAA>TAA p.E118* DDX1_uc010yjq.1_Nonsense_Mutation_p.E26* NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 118 B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity p.E118K(1) central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AGAAGTAAAGGAATGGCATGG 0.373 NA 21 41 6.36457e-07 8.05055e-07 0.021523 1 0 DNMT3A 1788 broad.mit.edu 37 2 25468194 25468195 + Missense_Mutation DNP GC GC AG TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:25468194_25468195GC>AG uc002rgc.2 - 13 1738_1739 c.1481_1482GC>CT c.(1480-1482)TGC>TCT p.C494S DNMT3A_uc002rgd.2_Missense_Mutation_p.C494S|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.C305S NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 494 Interaction with the PRC2/EED-EZH2 complex (By similarity).|GATA-type; atypical.|ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACAGGAGATGCAGATGTCTGG 0.604 NA Mis|F|N|S AML 8 17 0 0 0.004672 0 0 NRXN1 9378 broad.mit.edu 37 2 50779824 50779824 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:50779824G>T uc010fbq.2 - 9 3257 c.1780C>A c.(1780-1782)CTG>ATG p.L594M NRXN1_uc002rxb.3_Missense_Mutation_p.L226M|NRXN1_uc002rxe.3_Missense_Mutation_p.L554M|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CCCATGTCCAGGAGGAGGTAG 0.473 NA 58 83 9.59835e-30 1.81513e-29 0.01441 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745683 77745683 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:77745683T>C uc002snr.2 - 3 1727 c.1312A>G c.(1312-1314)ATG>GTG p.M438V LRRTM4_uc002snq.2_Missense_Mutation_p.M438V|LRRTM4_uc002sns.2_Missense_Mutation_p.M438V|LRRTM4_uc002snt.2_Missense_Mutation_p.M439V NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 438 Helical; (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AAGAGGATCATGGCCACTGAG 0.493 NA 39 33 0 0 0.00874 0 0 YSK4 80122 broad.mit.edu 37 2 135756462 135756462 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:135756462G>T uc002tue.1 - 5 451 c.420C>A c.(418-420)CCC>CCA p.P140P YSK4_uc010fne.1_Silent_p.P112P|YSK4_uc002tuf.1_Silent_p.P140P|YSK4_uc010fnc.1_Silent_p.P140P|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Silent_p.P140P|YSK4_uc002tui.3_Silent_p.P157P NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 140 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) GCAAAACTAAGGGCCGCATGG 0.433 NA 11 43 3.07112e-06 3.71255e-06 0.010729 1 0 GALNT5 11227 broad.mit.edu 37 2 158142621 158142621 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:158142621G>T uc002tzg.2 + 3 1971 c.1716G>T c.(1714-1716)AGG>AGT p.R572S GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 572 Catalytic subdomain A.|Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 TAAGGGCCAGGCTGGCAGGAG 0.303 NA 9 40 5.16669e-11 6.99884e-11 0.010729 1 0 CHRNA1 1134 broad.mit.edu 37 2 175622341 175622341 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:175622341G>C uc002ujd.2 - 5 450 c.372C>G c.(370-372)CAC>CAG p.H124Q uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.H99Q|CHRNA1_uc002ujf.3_Missense_Mutation_p.H99Q NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 124 Extracellular. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 CTGAAGGAATGTGAATTTTTT 0.438 NA 38 36 0 0 0.005524 0 0 COL5A2 1290 broad.mit.edu 37 2 189927933 189927933 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:189927933C>A uc002uqk.2 - 27 2109 c.1834G>T c.(1834-1836)GGG>TGG p.G612W COL5A2_uc010frx.2_Missense_Mutation_p.G188W NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 612 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCATGCTCCCGGGCTGCCCT 0.517 NA 58 69 2.01871e-26 3.63749e-26 0.01441 1 0 ANKAR 150709 broad.mit.edu 37 2 190554683 190554683 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:190554683T>C uc002uqw.1 + 2 819 c.819T>C c.(817-819)CCT>CCC p.P273P ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Silent_p.P344P NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 344 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGCTTCAGCCTTTTTCAGGTA 0.289 NA 3 65 0 0 0.009096 0 0 CAPN10 11132 broad.mit.edu 37 2 241536200 241536200 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr2:241536200G>T uc002vzk.1 + 9 1768 c.1584G>T c.(1582-1584)ACG>ACT p.T528T CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.T400T|CAPN10_uc002vzo.1_Intron|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_Intron|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 528 Domain III 2. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TCGGCCAGACGGCGGGGGGCA 0.701 NA 27 26 2.24059e-21 3.75398e-21 0.00632 1 0 SIRPB1 10326 broad.mit.edu 37 20 1559087 1559087 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:1559087G>T uc010gai.2 - 2 429 c.330C>A c.(328-330)ATC>ATA p.I110I SIRPB1_uc002wfk.3_Silent_p.I110I NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 110 Extracellular (Potential).|Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 CTGCTGGGGTGATGTTACTGA 0.502 NA 39 83 2.58029e-29 4.7848e-29 0.009718 1 0 MYLK2 85366 broad.mit.edu 37 20 30408221 30408221 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:30408221G>A uc002wwq.2 + 3 447 c.345G>A c.(343-345)CAG>CAA p.Q115Q NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 115 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGGCTGAGCAGGGAGCCTCAG 0.692 NA 23 33 0 0 0.004656 0 0 MYBL2 4605 broad.mit.edu 37 20 42331478 42331478 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:42331478G>T uc002xlb.1 + 8 1515 c.1300G>T c.(1300-1302)GAT>TAT p.D434Y MYBL2_uc010zwj.1_Missense_Mutation_p.D410Y|MYBL2_uc002xla.1_Missense_Mutation_p.D434Y NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 434 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GTCCTTCCTGGATTCCTGTAA 0.602 NA 23 46 4.16121e-05 4.75923e-05 0.016522 1 0 SLC12A5 57468 broad.mit.edu 37 20 44685923 44685923 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:44685923C>A uc010zxl.1 + 25 3385 c.3309C>A c.(3307-3309)AAC>AAA p.N1103K SLC12A5_uc002xrb.2_Missense_Mutation_p.N1080K NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 1103 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTCCCCGCAACCGCAATGGTG 0.567 NA 15 116 7.07596e-05 7.99709e-05 0.006122 1 0 SLC2A10 81031 broad.mit.edu 37 20 45355567 45355567 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:45355567C>G uc002xsl.2 + 3 1450 c.1353C>G c.(1351-1353)TGC>TGG p.C451W NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 451 Helical; Name=11; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCGCCTTCTGCAACAGCTTCA 0.502 NA 6 153 0 0 0.001168 0 0 ATP9A 10079 broad.mit.edu 37 20 50244178 50244178 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:50244178T>C uc002xwg.1 - 17 1806 c.1806A>G c.(1804-1806)GCA>GCG p.A602A ATP9A_uc010gih.1_Silent_p.A466A|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 602 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 GAGACTTCTTTGCCACCACGA 0.403 NA 67 256 0 0 0.01441 0 0 LAMA5 3911 broad.mit.edu 37 20 60913645 60913645 + Silent SNP T T A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:60913645T>A uc002ycq.2 - 12 1564 c.1497A>T c.(1495-1497)GCA>GCT p.A499A NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 499 Laminin EGF-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGGGTCCCTGCCGCGCTGC 0.647 NA 10 6 0 0 0.010729 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28315732 28315732 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr21:28315732C>A uc002ymg.2 - 3 2101 c.1372G>T c.(1372-1374)GCC>TCC p.A458S NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 458 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GTGATGGTGGCTGAAGTGCAT 0.423 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 11 20 3.07112e-06 3.71255e-06 0.010729 1 0 RIPK4 54101 broad.mit.edu 37 21 43187057 43187057 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr21:43187057C>T uc002yzn.1 - 1 193 c.145G>A c.(145-147)GCC>ACC p.A49T NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 49 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CACTTGATGGCCAGCCAGGTC 0.488 NA 9 7 0 0 0.006214 0 0 MYO18B 84700 broad.mit.edu 37 22 26165124 26165124 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr22:26165124A>T uc003abz.1 + 4 1491 c.1241A>T c.(1240-1242)AAG>ATG p.K414M MYO18B_uc003aca.1_Missense_Mutation_p.K295M|MYO18B_uc010guy.1_Missense_Mutation_p.K295M|MYO18B_uc010guz.1_Missense_Mutation_p.K295M|MYO18B_uc011aka.1_Translation_Start_Site|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 414 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CAGACAGAGAAGGGCTGTGAA 0.607 NA 4 4 0 0 0.001168 0 0 SH3BP1 23616 broad.mit.edu 37 22 38046636 38046636 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr22:38046636C>T uc003ati.2 + 16 1613 c.1502C>T c.(1501-1503)TCC>TTC p.S501F SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_3'UTR|SH3BP1_uc003ath.1_Missense_Mutation_p.S501F|SH3BP1_uc003atj.1_Missense_Mutation_p.S437F|SH3BP1_uc003atk.1_Missense_Mutation_p.S415F|uc003atl.1_RNA NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 501 signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) GAACTTCCGTCCACTGCCGTG 0.398 NA 15 32 0 0 0.004007 0 0 IL17RE 132014 broad.mit.edu 37 3 9948463 9948463 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:9948463A>T uc003btu.2 + 6 557 c.440A>T c.(439-441)CAC>CTC p.H147L CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.H147L|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.H147L|IL17RE_uc003btx.2_Missense_Mutation_p.H31L|IL17RE_uc010hcq.2_Missense_Mutation_p.H147L|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 147 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GACATCTCCCACAAGGGACTT 0.542 NA 6 88 0 0 0.001168 0 0 HTR1F 3355 broad.mit.edu 37 3 88040430 88040430 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:88040430C>A uc003dqr.2 + 2 689 c.531C>A c.(529-531)GAC>GAA p.D177E NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 177 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TCAAGCACGACCACATTGTTT 0.378 NA 27 8 7.76418e-22 1.31235e-21 0.005443 1 0 ZPLD1 131368 broad.mit.edu 37 3 102189285 102189285 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:102189285G>T uc003dvs.1 + 16 1863 c.981G>T c.(979-981)TGG>TGT p.W327C ZPLD1_uc003dvt.1_Missense_Mutation_p.W343C|ZPLD1_uc011bhg.1_Missense_Mutation_p.W327C NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 327 Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 GGACGACTTGGAGCCCCCAGA 0.507 NA 17 7 5.03518e-11 6.86943e-11 0.007413 1 0 PARP9 83666 broad.mit.edu 37 3 122259566 122259566 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:122259566C>G uc010hri.2 - 8 1768 c.1623G>C c.(1621-1623)CAG>CAC p.Q541H PARP9_uc003eff.3_Missense_Mutation_p.Q506H|PARP9_uc011bjs.1_Missense_Mutation_p.Q506H|PARP9_uc003efg.2_Missense_Mutation_p.Q86H|PARP9_uc003efi.2_Missense_Mutation_p.Q506H|PARP9_uc003efh.2_Missense_Mutation_p.Q541H|PARP9_uc003efj.2_Missense_Mutation_p.Q506H NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 541 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) TGTGGTGGTTCTGGAGACTCA 0.443 NA 6 98 0 0 0.001168 0 0 CEP70 80321 broad.mit.edu 37 3 138219359 138219359 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:138219359G>A uc003esl.2 - 15 1617 c.1419C>T c.(1417-1419)TTC>TTT p.F473F CEP70_uc011bmk.1_Silent_p.F453F|CEP70_uc011bml.1_Silent_p.F455F|CEP70_uc011bmm.1_Silent_p.F321F|CEP70_uc003esm.2_Silent_p.F473F NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 473 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 ATAACTTTTGGAAGTGAGAAA 0.353 NA 88 125 0 0 0.01441 0 0 LIPH 200879 broad.mit.edu 37 3 185251403 185251403 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr3:185251403C>T uc003fpm.2 - 3 592 c.482G>A c.(481-483)GGG>GAG p.G161E LIPH_uc010hyh.2_Missense_Mutation_p.G161E NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN lipase, member H precursor 161 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity ovary(1)|pancreas(1) 2 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCCAACAAACCCAGATATGTG 0.483 NA 22 47 0 0 0.004656 0 0 GABRG1 2565 broad.mit.edu 37 4 46125866 46125866 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:46125866C>G uc003gxb.2 - 1 217 c.65G>C c.(64-66)AGG>ACG p.R22T NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 22 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GAAGACCAACCTCACCCCTCT 0.453 NA 5 38 0 0 0.001168 0 0 EPHA5 2044 broad.mit.edu 37 4 66231689 66231689 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:66231689C>G uc003hcy.2 - 11 2204 c.2011G>C c.(2011-2013)GAA>CAA p.E671Q EPHA5_uc003hcx.2_Missense_Mutation_p.E603Q|EPHA5_uc003hcz.2_Missense_Mutation_p.E649Q|EPHA5_uc011cah.1_Missense_Mutation_p.E672Q|EPHA5_uc011cai.1_Missense_Mutation_p.E650Q|EPHA5_uc003hda.2_Missense_Mutation_p.E672Q NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 671 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CATGATGCTTCTATCTCCTTA 0.358 NA TSP Lung(17;0.13) 46 40 0 0 0.01441 0 0 MUC7 4589 broad.mit.edu 37 4 71346861 71346861 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:71346861C>A uc011cat.1 + 4 688 c.400C>A c.(400-402)CAG>AAG p.Q134K MUC7_uc011cau.1_Missense_Mutation_p.Q134K|MUC7_uc003hfj.2_Missense_Mutation_p.Q134K|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 134 Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) TTTTCTTCCCCAGAATGCCAC 0.453 NA 38 59 4.32679e-17 6.82989e-17 0.006999 1 0 PDHA2 5161 broad.mit.edu 37 4 96761794 96761794 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:96761794G>A uc003htr.3 + 1 556 c.493G>A c.(493-495)GTC>ATC p.V165I NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 165 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CAATGGCATCGTCGGTGCACA 0.507 NA 29 67 0 0 0.00632 0 0 ADH5 128 broad.mit.edu 37 4 100009932 100009932 + Splice_Site SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:100009932C>A uc003hui.2 - 1 1 c.-79_splice c.e1-1 ADH5_uc003huk.1_Splice_Site|uc003hum.1_5'Flank|uc003hul.1_5'Flank NM_000671 NP_000662 P11766 ADHX_HUMAN class III alcohol dehydrogenase, chi subunit ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) TGGCGAGCGCCTAGCGAGGGG 0.711 NA 5 15 0.00116845 0.0012826 0.001168 1 0 DNAH5 1767 broad.mit.edu 37 5 13717423 13717424 + Splice_Site DNP CC CC AA TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:13717423_13717424CC>AA uc003jfd.2 - 73 12747 c.12705_splice c.e73+1 p.K4235_splice DNAH5_uc003jfc.2_Splice_Site_p.K403_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CGCGGCAGTACCTTTTTGACAT 0.495 NA Kartagener_syndrome 13 19 0 0 0.004672 0 0 CDH10 1008 broad.mit.edu 37 5 24511534 24511534 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:24511534C>A uc003jgr.1 - 6 1236 c.904G>T c.(904-906)GCT>TCT p.A302S CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 302 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TCTACTTCAGCATTTTTCCCA 0.428 NA HNSCC(23;0.051) 26 104 7.92952e-12 1.1055e-11 0.021523 1 0 PAPD4 167153 broad.mit.edu 37 5 78964730 78964730 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:78964730G>T uc010jae.1 + 13 1505 c.1087G>T c.(1087-1089)GCT>TCT p.A363S PAPD4_uc003kgb.2_Missense_Mutation_p.A363S|PAPD4_uc010jaf.1_Missense_Mutation_p.A363S|PAPD4_uc003kga.2_Missense_Mutation_p.A359S|PAPD4_uc003kfz.2_Missense_Mutation_p.A320S NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 363 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) TTTTAGTCCTGCTATACAGCT 0.393 NA 92 163 1.66795e-42 3.35345e-42 0.01441 1 0 EDIL3 10085 broad.mit.edu 37 5 83525673 83525673 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:83525673C>A uc003kio.1 - 3 645 c.226G>T c.(226-228)GGT>TGT p.G76C EDIL3_uc003kip.1_Intron NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 76 EGF-like 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GGAACTTTACCTGCTGAAGTT 0.209 NA 16 51 2.23348e-06 2.73459e-06 0.004007 1 0 SEMA6A 57556 broad.mit.edu 37 5 115783135 115783135 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:115783135G>A uc010jck.2 - 19 2976 c.2267C>T c.(2266-2268)CCC>CTC p.P756L SEMA6A_uc003krx.3_Missense_Mutation_p.P773L|SEMA6A_uc011cwe.1_Missense_Mutation_p.P135L|SEMA6A_uc003krv.3_Missense_Mutation_p.P183L|SEMA6A_uc003krw.3_Missense_Mutation_p.P233L|SEMA6A_uc010jcj.2_Missense_Mutation_p.P300L NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 756 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CTCTGGGGTGGGGAGGGCCGT 0.627 NA 67 74 0 0 0.01441 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176284 140176284 + Nonsense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:140176284G>T uc003lhd.2 + 1 1841 c.1735G>T c.(1735-1737)GAG>TAG p.E579* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Nonsense_Mutation_p.E579*|PCDHA2_uc011czy.1_Nonsense_Mutation_p.E579* NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 579 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGTGAGTGAGCTGGTGCC 0.662 NA 39 34 2.35958e-20 3.81933e-20 0.009718 1 0 PCDHB12 56124 broad.mit.edu 37 5 140588899 140588899 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:140588899A>T uc003liz.2 + 1 609 c.420A>T c.(418-420)TTA>TTT p.L140F PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 140 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATGCTCTTAGAAATCCCAG 0.388 NA 54 48 0 0 0.01441 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741968 140741968 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:140741968G>T uc003ljs.1 + 1 2266 c.2266G>T c.(2266-2268)GTT>TTT p.V756F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V756F|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 756 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCTGTGTGTTGCCTCACA 0.507 NA 80 62 6.11987e-43 1.24351e-42 0.01441 1 0 ADAM19 8728 broad.mit.edu 37 5 156964936 156964936 + Silent SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:156964936G>C uc003lwz.2 - 4 379 c.315C>G c.(313-315)ACC>ACG p.T105T ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T36T NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 105 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTTCCGTGTGGTGGTTTGAG 0.443 NA 14 30 0 0 0.004007 0 0 FAF2 23197 broad.mit.edu 37 5 175923528 175923528 + Missense_Mutation SNP A A G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr5:175923528A>G uc003mej.3 + 8 756 c.703A>G c.(703-705)ATG>GTG p.M235V NM_014613 NP_055428 Q96CS3 FAF2_HUMAN UBX domain containing 8 235 response to unfolded protein endoplasmic reticulum|lipid particle protein binding ovary(1) 1 ATTCCTGGCCATGATTATGCT 0.463 NA 27 35 0 0 0.012213 0 0 C6orf89 221477 broad.mit.edu 37 6 36882185 36882185 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:36882185G>C uc003omx.2 + 5 813 c.529G>C c.(529-531)GAG>CAG p.E177Q C6orf89_uc003omv.2_Missense_Mutation_p.E71Q|C6orf89_uc003omw.2_Missense_Mutation_p.E184Q|C6orf89_uc011dtr.1_Missense_Mutation_p.E71Q|C6orf89_uc003omy.2_Missense_Mutation_p.E11Q NM_152734 NP_689947 Q6UWU4 CF089_HUMAN hypothetical protein LOC221477 177 integral to membrane ovary(1) 1 AAGGAAATTTGAGAGGCTCCA 0.527 NA 27 31 0 0 0.009535 0 0 LRRC1 55227 broad.mit.edu 37 6 53785527 53785527 + Missense_Mutation SNP G G C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:53785527G>C uc003pcd.1 + 13 1661 c.1384G>C c.(1384-1386)GAG>CAG p.E462Q NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 462 cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CCGATTTGTGGAGGATGAGAA 0.443 NA 13 24 0 0 0.013537 0 0 GRIK2 2898 broad.mit.edu 37 6 102516291 102516291 + Nonsense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:102516291A>T uc003pqp.3 + 16 2881 c.2632A>T c.(2632-2634)AAG>TAG p.K878* GRIK2_uc003pqo.3_3'UTR|GRIK2_uc010kcw.2_3'UTR NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 878 Cytoplasmic (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTTAAAACATAAGCCACAGGC 0.413 NA 27 16 0 0 0.00632 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107019974 107019974 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr6:107019974C>A uc003prj.2 - 9 1565 c.1088G>T c.(1087-1089)CGG>CTG p.R363L RTN4IP1_uc010kdd.2_3'UTR|RTN4IP1_uc003prk.2_Missense_Mutation_p.R263L NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 363 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) AATAACTGGCCGGATCTGTAA 0.418 NA 40 13 1.57019e-19 2.52023e-19 0.007835 1 0 DNAH11 8701 broad.mit.edu 37 7 21628977 21628977 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:21628977T>C uc003svc.2 + 12 2156 c.2125T>C c.(2125-2127)TTC>CTC p.F709L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 709 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTTGGTTAAATTCAGTGCCAT 0.323 NA Kartagener_syndrome 21 63 0 0 0.004656 0 0 NSUN5P2 260294 broad.mit.edu 37 7 72420448 72420448 + Missense_Mutation SNP C C G rs400282 byFrequency TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:72420448C>G uc003twn.2 - 7 852 c.140G>C c.(139-141)TGG>TCG p.W47S POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.2_RNA|NSUN5P2_uc003twm.2_Missense_Mutation_p.W47S|NSUN5P2_uc003two.2_Missense_Mutation_p.W47S|NSUN5P2_uc003twq.2_Missense_Mutation_p.W47S|NSUN5P2_uc010lan.1_5'UTR|NSUN5P2_uc003twp.2_Missense_Mutation_p.W47S NM_032158 NP_115534 NOL1/NOP2/Sun domain family, member 5C isoform 0 CACAGGCATCCATGACATGGG 0.612 NA 4 47 0 0 0.001168 0 0 MUC17 140453 broad.mit.edu 37 7 100682994 100682994 + Missense_Mutation SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:100682994C>G uc003uxp.1 + 3 8350 c.8297C>G c.(8296-8298)TCT>TGT p.S2766C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2766 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTGGCCAGTTCTGAGGCTAGC 0.493 NA 154 131 0 0 0.01441 0 0 VGF 7425 broad.mit.edu 37 7 100807902 100807902 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:100807902G>T uc003uxx.3 - 2 441 c.223C>A c.(223-225)CAG>AAG p.Q75K NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 75 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) TCCACGCCCTGGAAAAGCTCT 0.736 NA 3 3 1.23904e-05 1.46992e-05 0.014758 1 0 ST7 7982 broad.mit.edu 37 7 116870061 116870061 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:116870061G>T uc011knn.1 + 14 1593 c.1588G>T c.(1588-1590)GTT>TTT p.V530F ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ATTAAAAGCTGTTTTTGTTGT 0.333 NA 2 3 0.00909568 0.00954547 0.009096 1 0 WNT2 7472 broad.mit.edu 37 7 116955207 116955207 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:116955207C>T uc003viz.2 - 3 806 c.506G>A c.(505-507)CGC>CAC p.R169H WNT2_uc003vja.2_Missense_Mutation_p.R73H NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 169 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity p.R169C(1) breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACAAATGCGCGGGCAAATTT 0.438 NA 31 69 0 0 0.009535 0 0 PLXNA4 91584 broad.mit.edu 37 7 131912276 131912276 + Missense_Mutation SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:131912276C>T uc003vra.3 - 7 2045 c.1816G>A c.(1816-1818)GTG>ATG p.V606M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 606 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TGATTGCCCACGACCAGCCCA 0.587 NA 11 27 0 0 0.008291 0 0 LOC93432 93432 broad.mit.edu 37 7 141833894 141833894 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:141833894G>A uc003vwz.2 + 7 748 c.689G>A c.(688-690)CGC>CAC p.R230H NR_003715 RecName: Full=Putative maltase-glucoamylase-like protein LOC93432; 0 CAGCAGTACCGCCACAATATG 0.587 NA 7 12 0 0 0.008291 0 0 FAM131B 9715 broad.mit.edu 37 7 143055984 143055984 + Silent SNP C C G TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr7:143055984C>G uc003wct.2 - 4 2024 c.318G>C c.(316-318)GTG>GTC p.V106V FAM131B_uc010loz.2_Silent_p.V74V|FAM131B_uc003wcu.3_Silent_p.V106V|FAM131B_uc010lpa.2_Silent_p.V134V|ZYX_uc011ktd.1_5'Flank NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 106 0 Melanoma(164;0.205) TATCCCTGCGCACGGACTCAT 0.592 NA 15 22 0 0 0.003163 0 0 DLGAP2 9228 broad.mit.edu 37 8 1496873 1496873 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:1496873C>A uc003wpl.2 + 2 111 c.14C>A c.(13-15)TCC>TAC p.S5Y DLGAP2_uc003wpm.2_Missense_Mutation_p.S5Y NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 84 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AAGGGCCTTTCCGGAAGTCGG 0.687 NA 6 9 2.0095e-06 2.4923e-06 0.001984 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497432 1497432 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:1497432C>A uc003wpl.2 + 2 670 c.573C>A c.(571-573)CAC>CAA p.H191Q DLGAP2_uc003wpm.2_Missense_Mutation_p.H191Q NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 270 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGCCCACCACGCCAAGCACA 0.667 NA 10 8 0.00829132 0.00879801 0.008291 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497586 1497586 + Missense_Mutation SNP G G T rs145069342 by1000genomes TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:1497586G>T uc003wpl.2 + 2 824 c.727G>T c.(727-729)GTG>TTG p.V243L DLGAP2_uc003wpm.2_Missense_Mutation_p.V243L NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 322 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCTGGGCCCCGTGGCCCACTG 0.677 NA 47 67 4.6707e-30 9.01115e-30 0.01441 1 0 CSMD1 64478 broad.mit.edu 37 8 3087578 3087578 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:3087578G>T uc011kwk.1 - 27 4722 c.4332C>A c.(4330-4332)GAC>GAA p.D1444E CSMD1_uc011kwj.1_Missense_Mutation_p.D836E|CSMD1_uc003wqe.2_Missense_Mutation_p.D600E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1444 Extracellular (Potential).|Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATGTAGGAGGGTCTGGTTGCC 0.438 NA 6 43 3.59834e-05 4.16535e-05 0.001168 1 0 NRG1 3084 broad.mit.edu 37 8 32453386 32453386 + Silent SNP G G T rs147561043 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:32453386G>T uc003xiv.2 + 2 658 c.141G>T c.(139-141)TCG>TCT p.S47S NRG1_uc003xip.2_Silent_p.S262S|NRG1_uc003xir.2_Silent_p.S47S|NRG1_uc010lvl.2_Silent_p.S47S|NRG1_uc010lvm.2_Silent_p.S47S|NRG1_uc010lvn.2_Silent_p.S47S|NRG1_uc003xis.2_Silent_p.S47S|NRG1_uc011lbf.1_Silent_p.S47S|NRG1_uc010lvo.2_Silent_p.S47S|NRG1_uc003xiu.2_Silent_p.S47S|NRG1_uc003xiw.2_Silent_p.S47S|NRG1_uc003xit.2_Silent_p.S47S|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.S13S|NRG1_uc010lvq.2_Silent_p.S13S NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 47 Extracellular (Potential).|Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GCCAGGAATCGGCTGCAGGTT 0.413 NA 57 34 9.59835e-30 1.81513e-29 0.01441 1 0 POTEA 340441 broad.mit.edu 37 8 43159892 43159892 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:43159892C>A uc003xpz.1 + 6 927 c.884C>A c.(883-885)TCT>TAT p.S295Y POTEA_uc003xqa.1_Missense_Mutation_p.S249Y NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 295 ovary(1) 1 CCAAACAACTCTTCTGGAAAT 0.199 NA 40 35 1.15183e-24 2.03704e-24 0.009718 1 0 CHD7 55636 broad.mit.edu 37 8 61777733 61777734 + Missense_Mutation DNP GG GG TT TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:61777733_61777734GG>TT uc003xue.2 + 38 8712_8713 c.8235_8236GG>TT c.(8233-8238)CTGGTG>CTTTTG p.V2746L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2746 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ACCCTTTGCTGGTGAACAGCCT 0.604 NA 4 6 0 0 0.004672 0 0 LRRCC1 85444 broad.mit.edu 37 8 86042158 86042158 + Missense_Mutation SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:86042158G>A uc003ycw.2 + 11 1785 c.1631G>A c.(1630-1632)AGA>AAA p.R544K LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.R245K|LRRCC1_uc003ycx.2_Missense_Mutation_p.R451K|LRRCC1_uc003ycy.2_Missense_Mutation_p.R524K NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 544 Potential. cell division|mitosis centriole|nucleus 0 ACTCAGATAAGACTGATCCAA 0.373 NA 4 99 0 0 0.009096 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110454418 110454418 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:110454418A>T uc003yne.2 + 35 4491 c.4387A>T c.(4387-4389)ACA>TCA p.T1463S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1463 Extracellular (Potential).|IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACAAAAATCTACATCAGGTAT 0.328 NA HNSCC(38;0.096) 34 7 0 0 0.015359 0 0 KIAA0196 9897 broad.mit.edu 37 8 126085512 126085512 + Silent SNP G G A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr8:126085512G>A uc003yrt.2 - 9 1362 c.1033C>T c.(1033-1035)CTA>TTA p.L345L KIAA0196_uc011lir.1_Silent_p.L197L NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 345 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCTTCTTTTAGAAATTGCTGC 0.398 NA 13 56 0 0 0.003163 0 0 FBXO10 26267 broad.mit.edu 37 9 37537272 37537272 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:37537272C>T uc004aab.2 - 3 1303 c.1254G>A c.(1252-1254)AAG>AAA p.K418K FBXO10_uc004aac.2_Silent_p.K434K|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 418 ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) CCATGGCCTCCTTATCCTTCT 0.627 NA 13 20 0 0 0.013537 0 0 TMEM2 23670 broad.mit.edu 37 9 74340552 74340552 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:74340552G>T uc011lsa.1 - 11 2663 c.2123C>A c.(2122-2124)CCA>CAA p.P708Q TMEM2_uc010mos.2_Missense_Mutation_p.P645Q|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 708 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGTGAGTTCTGGTTTTGCCAA 0.378 NA 24 47 7.87624e-14 1.16617e-13 0.016522 1 0 FAM75C1 441452 broad.mit.edu 37 9 90535445 90535445 + Missense_Mutation SNP C C A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:90535445C>A uc010mqi.2 + 4 652 c.623C>A c.(622-624)CCC>CAC p.P208H FAM75C1_uc004apq.3_Missense_Mutation_p.P191H NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CTAGAACGCCCCTCACCCGAG 0.627 NA 53 102 4.88482e-21 8.11306e-21 0.01441 1 0 LHX3 8022 broad.mit.edu 37 9 139091689 139091689 + Missense_Mutation SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr9:139091689T>C uc004cha.2 - 3 386 c.289A>G c.(289-291)ATC>GTC p.I97V LHX3_uc004cgz.2_Missense_Mutation_p.I102V NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 97 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GTGGGCGGGATGCCCAGCTGG 0.721 NA 7 3 0 0 0.001984 0 0 FAM47A 158724 broad.mit.edu 37 X 34150162 34150162 + Silent SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:34150162G>T uc004ddg.2 - 1 267 c.234C>A c.(232-234)CTC>CTA p.L78L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 78 ovary(4)|central_nervous_system(1) 5 ATATTTTGGGGAGTAAAAACT 0.542 NA 20 45 2.94398e-08 3.85137e-08 0.007413 1 0 NXF2B 728343 broad.mit.edu 37 X 101623732 101623732 + Silent SNP C C T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:101623732C>T uc004ejb.3 - 19 2502 c.630G>A c.(628-630)AAG>AAA p.K210K NXF2B_uc004eiz.3_Silent_p.K122K|NXF2B_uc004eja.3_Silent_p.K210K|NXF2_uc004eiy.3_Silent_p.K210K NM_001099686 NP_001093156 Q9GZY0 NXF2_HUMAN nuclear RNA export factor 2B 210 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|RNA binding ovary(1) 1 TTTGGCCTGGCTTCAACTTAT 0.483 NA 18 33 0 0 0.019004 0 0 GPR112 139378 broad.mit.edu 37 X 135428901 135428901 + Silent SNP T T C TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:135428901T>C uc004ezu.1 + 6 3327 c.3036T>C c.(3034-3036)ACT>ACC p.T1012T GPR112_uc010nsb.1_Silent_p.T807T|GPR112_uc010nsc.1_Silent_p.T779T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1012 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGCCTGTTACTCATATGTTCT 0.507 NA 103 19 0 0 0.01441 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638350 149638350 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:149638350G>T uc004fee.1 + 3 581 c.505G>T c.(505-507)GTG>TTG p.V169L MAMLD1_uc011mxt.1_Missense_Mutation_p.V131L|MAMLD1_uc011mxu.1_Missense_Mutation_p.V144L|MAMLD1_uc011mxv.1_Missense_Mutation_p.V144L|MAMLD1_uc011mxw.1_Missense_Mutation_p.V96L NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 169 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) AATCAACAGCGTGCCGGCTGT 0.478 NA 42 5 1.07121e-22 1.82679e-22 0.006999 1 0 MAGEA6 4105 broad.mit.edu 37 X 151869776 151869776 + Missense_Mutation SNP G G T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrX:151869776G>T uc004ffq.1 + 3 660 c.466G>T c.(466-468)GAT>TAT p.D156Y MAGEA6_uc004ffr.1_Missense_Mutation_p.D156Y|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 156 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGCTTCCGATTCCTTGCA 0.552 NA 61 9 1.27862e-28 2.34823e-28 0.01441 1 0 AMELY 266 broad.mit.edu 37 Y 6736166 6736166 + Missense_Mutation SNP A A T TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chrY:6736166A>T uc004fra.1 - 5 539 c.527T>A c.(526-528)ATG>AAG p.M176K AMELY_uc004fqz.2_Missense_Mutation_p.M162K NM_001143 NP_001134 Q99218 AMELY_HUMAN amelogenin, Y-linked precursor 176 biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel 0 CAGGGGGAACATTGGAGGCAG 0.627 NA 2 2 0 0 0.004672 0 0 SCUBE2 57758 broad.mit.edu 37 11 9096031 9096031 + Frame_Shift_Del DEL C C - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr11:9096031delC uc001mhh.1 - 4 594 c.514delG c.(514-516)GAAfs p.E172fs SCUBE2_uc001mhi.1_Frame_Shift_Del_p.E172fs|SCUBE2_uc001mhj.1_Frame_Shift_Del_p.E172fs NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 172 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GAGGTACCTTCCGAGCGGTGA 0.532 NA 7 91 --- --- --- --- NA NA NA NA NA KCNK10 54207 broad.mit.edu 37 14 88652098 88652098 + Frame_Shift_Del DEL G G - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr14:88652098delG uc001xwo.2 - 7 1855 c.1398delC c.(1396-1398)CCCfs p.P466fs KCNK10_uc001xwm.2_Frame_Shift_Del_p.P471fs|KCNK10_uc001xwn.2_Frame_Shift_Del_p.P471fs NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 466 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GAACGTCCTCGGGCAAGGTCT 0.502 NA 67 121 --- --- --- --- NA NA NA NA NA PITPNM3 83394 broad.mit.edu 37 17 6358848 6358848 + Frame_Shift_Del DEL G G - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr17:6358848delG uc002gdd.3 - 20 2886 c.2735delC c.(2734-2736)GCGfs p.A912fs PITPNM3_uc010cln.2_Frame_Shift_Del_p.A876fs|PITPNM3_uc010clm.2_Frame_Shift_Del_p.A395fs|PITPNM3_uc002gdc.3_Frame_Shift_Del_p.A503fs NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 912 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CTCTGGCTGCGCGTGCAGCCC 0.692 NA 13 23 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1221313 1221314 + Frame_Shift_Ins INS - - C rs67873004 TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:1221313_1221314insC uc002lrl.1 + 6 1951_1952 c.836_837insC c.(835-837)GGCfs p.G279fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 279 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGACTGTGGCCCCCCGCTCT 0.604 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 6 5 --- --- --- --- NA NA NA NA NA CACNA1A 773 broad.mit.edu 37 19 13418663 13418663 + Frame_Shift_Del DEL T T - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:13418663delT uc010dze.2 - 15 2158 c.1922delA c.(1921-1923)AATfs p.N641fs CACNA1A_uc010dzc.2_Frame_Shift_Del_p.N166fs|CACNA1A_uc002mwy.3_Frame_Shift_Del_p.N640fs|CACNA1A_uc010xne.1_Frame_Shift_Del_p.N166fs NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 641 Extracellular (Potential).|II. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTCATCGAAATTAAACCTGCA 0.547 NA 55 14 --- --- --- --- NA NA NA NA NA ZNF671 79891 broad.mit.edu 37 19 58232780 58232780 + Frame_Shift_Del DEL C C - TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr19:58232780delC uc002qpz.3 - 4 773 c.674delG c.(673-675)GGCfs p.G225fs ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Frame_Shift_Del_p.G148fs|ZNF671_uc010yhf.1_Frame_Shift_Del_p.G127fs NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGAGTCTCTGCCCTCCTTCCT 0.507 NA 9 74 --- --- --- --- NA NA NA NA NA DEFB115 245929 broad.mit.edu 37 20 29847303 29847304 + Frame_Shift_Ins INS - - A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr20:29847303_29847304insA uc002wvp.1 + 2 135_136 c.135_136insA c.(133-138)TGCAGGfs p.C45fs NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN beta-defensin 115 precursor 45_46 defense response to bacterium extracellular region ovary(1) 1 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) CTGGCAGATGCAGGAAATCATG 0.317 NA 21 30 --- --- --- --- NA NA NA NA NA RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:26417145_26417146insA uc003grx.1 + 5 479_480 c.243_244insA c.(241-246)AAGAAAfs p.K81fs RBPJ_uc003gry.1_Frame_Shift_Ins_p.K66fs|RBPJ_uc003grz.1_Frame_Shift_Ins_p.K81fs|RBPJ_uc011bxt.1_Frame_Shift_Ins_p.K81fs|RBPJ_uc003gsa.1_Frame_Shift_Ins_p.K67fs|RBPJ_uc003gsb.1_Frame_Shift_Ins_p.K68fs|RBPJ_uc003gsc.1_Frame_Shift_Ins_p.K67fs NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 81_82 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 NA 7 290 --- --- --- --- NA NA NA NA NA C4orf41 60684 broad.mit.edu 37 4 184605873 184605874 + Frame_Shift_Ins INS - - TATC TCGA-64-5774-01A-01D-1625-08 TCGA-64-5774-10A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq df5957d5-20d3-483e-990b-d6369fb990b8 4fb568ce-a4be-46c5-862b-5c681936f30b g.chr4:184605873_184605874insTATC uc003ivx.2 + 15 1622_1623 c.1446_1447insTATC c.(1444-1449)GATTATfs p.D482fs C4orf41_uc003ivw.2_Frame_Shift_Ins_p.D482fs|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Frame_Shift_Ins_p.D88fs NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 482_483 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) TGATGTGTGATTATCGGAGTGA 0.406 NA 15 101 --- --- --- --- NA NA NA NA NA