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 CAMTA1 23261 broad.mit.edu 37 1 7700570 7700570 + Silent SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:7700570G>A uc001aoi.2 + 7 828 c.621G>A c.(619-621)GCG>GCA p.A207A NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGGAGTGGGCGAAATGGACGA 0.627 NA 27 73 0 0 0.001512 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418 NA 6 42 0 0 0.00116845 0 0 NIPAL3 57185 broad.mit.edu 37 1 24786997 24786997 + Missense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:24786997G>T uc001bjh.2 + 10 1296 c.889G>T c.(889-891)GGG>TGG p.G297W NIPAL3_uc001bjg.2_Missense_Mutation_p.G297W|NIPAL3_uc009vrc.2_Missense_Mutation_p.G215W|NIPAL3_uc001bji.2_Missense_Mutation_p.R105L NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 297 integral to membrane 0 GGACTTCATCGGGGAGGACGT 0.493 NA 4 54 8.12818e-05 0.000441558 8.12818e-05 1 0 ZNF644 84146 broad.mit.edu 37 1 91403507 91403507 + Missense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:91403507G>T uc001dnw.2 - 4 3365 c.3223C>A c.(3223-3225)CCA>ACA p.P1075T ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 1075 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ACACAGATTGGAGATTTGTGA 0.368 NA 6 103 2.7689e-08 1.63691e-07 8.12818e-05 1 0 ST7L 54879 broad.mit.edu 37 1 113124662 113124662 + Missense_Mutation SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:113124662C>G uc001ecd.2 - 9 1326 c.1021G>C c.(1021-1023)GAA>CAA p.E341Q ST7L_uc009wgh.2_Intron|ST7L_uc001ecc.2_Missense_Mutation_p.E158Q|ST7L_uc010owg.1_Missense_Mutation_p.E276Q|ST7L_uc010owh.1_Intron|ST7L_uc001ece.2_Missense_Mutation_p.E341Q|ST7L_uc001ecf.2_Missense_Mutation_p.E324Q|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.E276Q|ST7L_uc001ech.2_Missense_Mutation_p.E324Q|ST7L_uc001eci.2_Missense_Mutation_p.E341Q|ST7L_uc009wgi.1_RNA|ST7L_uc010owj.1_Missense_Mutation_p.E324Q NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7-like isoform 1 341 negative regulation of cell growth integral to membrane binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTGTAATTCTAAAAGTGAT 0.328 NA 3 62 0 0 0.00024832 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474307 145474307 + Missense_Mutation SNP T T G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:145474307T>G uc001enq.1 + 4 2272 c.979T>G c.(979-981)TCA>GCA p.S327A NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 327 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGTCCCCCTTCAGGGCTGAG 0.647 NA 14 24 0 0 0.000308642 0 0 OR10J3 441911 broad.mit.edu 37 1 159283480 159283480 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:159283480C>T uc010piu.1 - 1 970 c.970G>A c.(970-972)GCG>ACG p.A324T NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 324 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) TTTATAAACGCAAAGGAAAAG 0.393 NA 15 65 0 0 0.000308642 0 0 GPR52 9293 broad.mit.edu 37 1 174418031 174418031 + Missense_Mutation SNP G G A rs144653948 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:174418031G>A uc001gka.1 + 1 820 c.782G>A c.(781-783)CGT>CAT p.R261H RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 261 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 AGCCCTGACCGTCGCTACGCC 0.458 Ovarian(92;924 1390 1930 16467 40583) NA 30 74 0 0 0.001512 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668708 176668708 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:176668708C>A uc001gkz.2 + 8 4383 c.3219C>A c.(3217-3219)CAC>CAA p.H1073Q PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1073 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CACATTCTCACAGGAAGTTCA 0.542 NA 14 193 2.31682e-05 0.000129356 0.000308642 1 0 CRB1 23418 broad.mit.edu 37 1 197316538 197316538 + Nonsense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:197316538G>A uc001gtz.2 + 4 1052 c.917G>A c.(916-918)TGG>TAG p.W306* CRB1_uc010poz.1_Nonsense_Mutation_p.W237*|CRB1_uc001gty.1_Nonsense_Mutation_p.W306*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Nonsense_Mutation_p.W306*|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 306 Extracellular (Potential).|EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CCTCTTTGTTGGTCAAAACCT 0.423 NA 23 61 0 0 0.000375601 0 0 ATP2B4 493 broad.mit.edu 37 1 203668679 203668679 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:203668679C>T uc001gzw.2 + 4 1367 c.483C>T c.(481-483)ATC>ATT p.I161I ATP2B4_uc001gzv.2_Silent_p.I161I|ATP2B4_uc009xaq.2_Silent_p.I161I NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 161 Helical; (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CAGTGATCATCGTGGTGTTAG 0.502 NA 11 193 0 0 0.00136819 0 0 GBF1 8729 broad.mit.edu 37 10 104112253 104112253 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:104112253A>G uc001kux.1 + 7 802 c.562A>G c.(562-564)ATG>GTG p.M188V GBF1_uc001kuw.2_Missense_Mutation_p.M188V|GBF1_uc001kuy.1_Missense_Mutation_p.M188V|GBF1_uc001kuz.1_Missense_Mutation_p.M188V NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 188 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TCTCGTAGACATGGTGCAGCT 0.507 NA OREG0020477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 56 0 0 0.00185496 0 0 TACC2 10579 broad.mit.edu 37 10 123845072 123845072 + Missense_Mutation SNP A A T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:123845072A>T uc001lfv.2 + 4 3417 c.3057A>T c.(3055-3057)GAA>GAT p.E1019D TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E1019D|TACC2_uc010qtv.1_Missense_Mutation_p.E1019D NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1019 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GAGCTTCTGAAGCAGCTGATG 0.557 NA 6 40 0 0 0.00116845 0 0 OR52N1 79473 broad.mit.edu 37 11 5809217 5809217 + Missense_Mutation SNP A A T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr11:5809217A>T uc010qzo.1 - 1 830 c.830T>A c.(829-831)ATT>AAT p.I277N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AGCCATAATAATATGTATGTG 0.438 NA 12 52 0 0 0.00185496 0 0 ARAP1 116985 broad.mit.edu 37 11 72408407 72408407 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr11:72408407C>T uc001osu.2 - 21 3103 c.2914G>A c.(2914-2916)GTG>ATG p.V972M ARAP1_uc001osv.2_Missense_Mutation_p.V972M|ARAP1_uc001osr.2_Missense_Mutation_p.V732M|ARAP1_uc001oss.2_Missense_Mutation_p.V727M|ARAP1_uc009yth.2_Missense_Mutation_p.V666M|ARAP1_uc010rre.1_Missense_Mutation_p.V727M NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 972 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 TACACGATCACCGGGATATCC 0.682 Ovarian(102;1198 1520 13195 17913 37529) NA 4 14 0 0 0.000602214 0 0 NUP107 57122 broad.mit.edu 37 12 69107517 69107517 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr12:69107517A>G uc001suf.2 + 11 1013 c.898A>G c.(898-900)ACT>GCT p.T300A NUP107_uc001sug.2_Missense_Mutation_p.T147A|NUP107_uc010stj.1_Missense_Mutation_p.T271A NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 300 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CAGGGAAAATACTCTGCATAC 0.328 NA 14 45 0 0 0.000219431 0 0 DHX37 57647 broad.mit.edu 37 12 125434579 125434579 + Silent SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr12:125434579C>G uc001ugy.2 - 25 3342 c.3243G>C c.(3241-3243)CGG>CGC p.R1081R DHX37_uc001ugz.1_Silent_p.R168R NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 1081 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCAGACAGCTCCGGTATGAGG 0.662 NA 8 15 0 0 0.000157383 0 0 GPR180 160897 broad.mit.edu 37 13 95271525 95271525 + Silent SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr13:95271525G>C uc001vly.2 + 4 705 c.627G>C c.(625-627)CTG>CTC p.L209L GPR180_uc001vlz.2_Silent_p.L108L|GPR180_uc010afi.2_Intron NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 209 Helical; (Potential). integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TAAAGGTTCTGACAACTGCAT 0.388 NA 3 75 0 0 6.4e-05 0 0 FOXG1 2290 broad.mit.edu 37 14 29237174 29237174 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr14:29237174G>A uc001wqe.2 + 1 888 c.689G>A c.(688-690)CGC>CAC p.R230H NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 230 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AACTCCATCCGCCACAATCTG 0.592 NA 16 30 0 0 0.000566183 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208417 65208417 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr14:65208417G>A uc001xho.1 + 16 2451 c.2182G>A c.(2182-2184)GAA>AAA p.E728K PLEKHG3_uc001xhn.1_Missense_Mutation_p.E672K|PLEKHG3_uc001xhp.2_Missense_Mutation_p.E849K|PLEKHG3_uc010aqh.1_Missense_Mutation_p.E270K|PLEKHG3_uc001xhq.1_Missense_Mutation_p.E233K NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 728 YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGAAAATGCAGAACACCATGA 0.527 NA 36 92 0 0 0.00111076 0 0 RPAP1 26015 broad.mit.edu 37 15 41813100 41813100 + Missense_Mutation SNP G G A rs138581766 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr15:41813100G>A uc001zod.2 - 22 3408 c.3284C>T c.(3283-3285)CCG>CTG p.P1095L RPAP1_uc001zoc.2_Missense_Mutation_p.P114L NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1095 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGGCAGCAGCGGCTCCGTAGG 0.662 NA 7 54 0 0 8.12818e-05 0 0 SHCBP1 79801 broad.mit.edu 37 16 46615942 46615942 + Missense_Mutation SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr16:46615942G>C uc002eec.3 - 13 1758 c.1718C>G c.(1717-1719)ACA>AGA p.T573R NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 573 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CTCTCCACTTGTCTGAATTTT 0.373 NA 17 88 0 0 0.00121646 0 0 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:7574018G>A uc002gim.2 - 10 1203 c.1009C>T c.(1009-1011)CGC>TGC p.R337C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 337 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATCTCGAAGCGCTCACGCCCA 0.448 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 29 0 0 0.001512 0 0 MYO18A 399687 broad.mit.edu 37 17 27493549 27493549 + Missense_Mutation SNP T T C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:27493549T>C uc002hdt.1 - 2 568 c.410A>G c.(409-411)AAG>AGG p.K137R MYO18A_uc010csa.1_Missense_Mutation_p.K137R|MYO18A_uc002hdu.1_Missense_Mutation_p.K137R NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 137 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGAAAAGCGCTTGACAATCAT 0.622 Esophageal Squamous(182;472 2015 7001 15270 22562) NA 8 64 0 0 0.000274275 0 0 CPD 1362 broad.mit.edu 37 17 28782439 28782439 + Missense_Mutation SNP T T G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:28782439T>G uc002hfb.1 + 15 3303 c.3288T>G c.(3286-3288)GAT>GAG p.D1096E CPD_uc010wbo.1_Missense_Mutation_p.D849E|CPD_uc010wbp.1_Intron NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 1096 Extracellular (Potential).|Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 TTGCCTTAGATGGTGGTTCCA 0.363 NA 16 227 0 0 0.000308642 0 0 CDH7 1005 broad.mit.edu 37 18 63526954 63526954 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr18:63526954A>G uc002ljz.2 + 10 1830 c.1505A>G c.(1504-1506)AAA>AGA p.K502R CDH7_uc002lka.2_Missense_Mutation_p.K502R|CDH7_uc002lkb.2_Missense_Mutation_p.K502R NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 502 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GTTATCCAGAAAATCAGTGCT 0.363 NA 6 23 0 0 0.00116845 0 0 CYP4F11 57834 broad.mit.edu 37 19 16035624 16035624 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr19:16035624C>A uc002nbu.2 - 6 630 c.594G>T c.(592-594)ATG>ATT p.M198I CYP4F11_uc010eab.1_Missense_Mutation_p.M198I|CYP4F11_uc002nbt.2_Missense_Mutation_p.M198I NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 198 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 TGTCCAAGGTCATGAGGCTGA 0.537 NA 21 81 9.95505e-16 6.06353e-15 0.000295444 1 0 IL1RL1 9173 broad.mit.edu 37 2 102955462 102955462 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:102955462C>A uc002tbu.1 + 3 498 c.227C>A c.(226-228)CCA>CAA p.P76Q IL1RL1_uc010ywa.1_5'UTR|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.P76Q NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 76 Extracellular (Potential).|Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 AAGTTTCTACCAGCTGCAGTT 0.433 NA 19 138 0.000229342 0.00122927 0.00188189 1 0 ZEB2 9839 broad.mit.edu 37 2 145147072 145147072 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:145147072C>T uc002tvu.2 - 10 4071 c.3591G>A c.(3589-3591)GGG>GGA p.G1197G ZEB2_uc002tvv.2_Silent_p.G1191G|ZEB2_uc010zbm.1_Silent_p.G1168G|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1197 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TTTCCATTTTCCCATCCTCCG 0.388 Melanoma(33;1235 1264 5755 16332) NA 57 236 0 0 0.000781405 0 0 PPIG 9360 broad.mit.edu 37 2 170488419 170488419 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:170488419G>A uc002uez.2 + 11 1125 c.905G>A c.(904-906)AGA>AAA p.R302K PPIG_uc010fpx.2_Missense_Mutation_p.R287K|PPIG_uc010fpy.2_Missense_Mutation_p.R295K|PPIG_uc002ufa.2_Missense_Mutation_p.R302K|PPIG_uc002ufb.2_Missense_Mutation_p.R302K|PPIG_uc002ufd.2_Missense_Mutation_p.R299K NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 302 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) aggaaaaacagagagagagaa 0.259 NA 5 19 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179447908 179447908 + Silent SNP A A C rs55766906 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:179447908A>C uc010zfg.1 - 262 58142 c.57918T>G c.(57916-57918)ACT>ACG p.T19306T uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T13001T|TTN_uc010zfi.1_Silent_p.T12934T|TTN_uc010zfj.1_Silent_p.T12809T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20233 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTTTCACAGTAAGCAAAG 0.398 NA 6 21 0 0 0.000157383 0 0 VPS16 64601 broad.mit.edu 37 20 2845910 2845910 + Silent SNP T T G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr20:2845910T>G uc002whe.2 + 21 2169 c.2121T>G c.(2119-2121)GGT>GGG p.G707G VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Silent_p.G563G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Silent_p.G393G|VPS16_uc002whi.2_Silent_p.G191G NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 707 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 TTCTTGGCGGTCACAACAAGC 0.617 NA 17 43 0 0 0.000958276 0 0 GGT5 2687 broad.mit.edu 37 22 24640618 24640618 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr22:24640618C>T uc002zzo.3 - 1 493 c.76G>A c.(76-78)GCT>ACT p.A26T GGT5_uc002zzp.3_Missense_Mutation_p.A26T|GGT5_uc002zzr.3_Missense_Mutation_p.A26T|GGT5_uc002zzq.3_Missense_Mutation_p.A26T|GGT5_uc011ajm.1_Missense_Mutation_p.A26T|GGT5_uc011ajn.1_RNA NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 26 Helical; Signal-anchor for type II membrane protein; (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 AGGACCACAGCCAGCACAATG 0.677 NA 15 35 0 0 0.000422831 0 0 CHEK2 11200 broad.mit.edu 37 22 29091782 29091782 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr22:29091782G>A uc003adu.1 - 11 1247 c.1175C>T c.(1174-1176)GCG>GTG p.A392V CHEK2_uc003ads.1_Missense_Mutation_p.A171V|CHEK2_uc010gvh.1_Missense_Mutation_p.A301V|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.A435V|CHEK2_uc003adv.1_Missense_Mutation_p.A363V|CHEK2_uc003adw.1_Missense_Mutation_p.A392V|CHEK2_uc003adx.1_Missense_Mutation_p.A171V|CHEK2_uc003ady.1_Missense_Mutation_p.A392V|CHEK2_uc003adz.1_Missense_Mutation_p.A196V NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 392 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A392A(6) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 AACTTCAGGCGCCAAGTAGGT 0.428 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 15 55 0 0 0.000958276 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685542 111685542 + Nonsense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:111685542G>T uc010hqa.2 + 14 3571 c.3160G>T c.(3160-3162)GAA>TAA p.E1054* PHLDB2_uc003dyc.2_Nonsense_Mutation_p.E1038*|PHLDB2_uc003dyd.2_Nonsense_Mutation_p.E1011*|PHLDB2_uc003dyg.2_Nonsense_Mutation_p.E1054*|PHLDB2_uc003dyh.2_Nonsense_Mutation_p.E1011*|PHLDB2_uc003dyi.2_Nonsense_Mutation_p.E545*|PHLDB2_uc003dyj.2_Nonsense_Mutation_p.E109* NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1054 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GCGGCTGCTCGAATCCAGGGT 0.348 NA 14 29 1.05317e-09 6.31902e-09 0.000219431 1 0 CCRL1 51554 broad.mit.edu 37 3 132319970 132319970 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:132319970C>T uc003eow.2 + 2 812 c.729C>T c.(727-729)CTC>CTT p.L243L ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Silent_p.L243L NM_016557 NP_057641 Q9NPB9 CCRL1_HUMAN chemokine (C-C motif) receptor-like 1 243 Helical; Name=6; (Potential). chemotaxis|immune response integral to plasma membrane C-C chemokine receptor activity 0 AAGTTCTGCTCACAGTCGTTA 0.418 Pancreas(96;1505 1524 4501 17831 18121) NA 19 50 0 0 0.001512 0 0 TM4SF1 4071 broad.mit.edu 37 3 149093484 149093484 + Missense_Mutation SNP A A C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:149093484A>C uc003exb.1 - 2 484 c.250T>G c.(250-252)TGT>GGT p.C84G TM4SF1_uc003exc.1_5'UTR NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 84 Cytoplasmic (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CGTTTGCCACAGTTTTCATGG 0.517 NA 18 157 0 0 0.00152264 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186570990 186570990 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:186570990G>A uc003fra.2 + 2 227 c.143G>A c.(142-144)GGC>GAC p.G48D ADIPOQ_uc010hyy.2_Missense_Mutation_p.G48D NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 48 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGGCATCCGGGCCATAATGGG 0.612 NA 8 15 0 0 0.000157383 0 0 MUC4 4585 broad.mit.edu 37 3 195538661 195538662 + Missense_Mutation DNP GG GG AC TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:195538661_195538662GG>AC uc011bto.1 - 1 487_488 c.27_28CC>GT c.(25-30)GTCCCC>GTGTCC p.P10S MUC4_uc003fvo.2_Missense_Mutation_p.P10S|MUC4_uc003fvp.2_Missense_Mutation_p.P10S|MUC4_uc010hzv.2_RNA NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 10 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACACCCAGGGGACCCTCCTCC 0.649 NA 13 48 0 0 6.4e-05 0 0 N4BP2 55728 broad.mit.edu 37 4 40122226 40122226 + Missense_Mutation SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr4:40122226C>G uc003guy.3 + 9 2833 c.2495C>G c.(2494-2496)TCT>TGT p.S832C N4BP2_uc010ifq.2_Missense_Mutation_p.S752C|N4BP2_uc010ifr.2_Missense_Mutation_p.S752C NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 832 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 AACAGTGTATCTGTGAATACA 0.403 NA 4 31 0 0 0.00024832 0 0 FGF10 2255 broad.mit.edu 37 5 44388506 44388506 + Missense_Mutation SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:44388506C>G uc003jog.1 - 1 279 c.279G>C c.(277-279)GAG>GAC p.E93D NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 93 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) TCCCGTTCTTCTCAATCTTGA 0.517 NA 26 62 0 0 0.000409698 0 0 KIF20A 10112 broad.mit.edu 37 5 137521298 137521298 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:137521298G>A uc003lcj.2 + 16 2520 c.2024G>A c.(2023-2025)CGG>CAG p.R675Q KIF20A_uc011cyo.1_Missense_Mutation_p.R657Q NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 675 Potential. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGGCCCTACGGCGGTCACAA 0.507 NA 13 118 0 0 0.000219431 0 0 REEP2 51308 broad.mit.edu 37 5 137776766 137776766 + Missense_Mutation SNP G G A rs147103044 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:137776766G>A uc003lcz.2 + 2 216 c.94G>A c.(94-96)GTG>ATG p.V32M REEP2_uc003lda.2_Missense_Mutation_p.V32M|REEP2_uc011cyt.1_Translation_Start_Site NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 32 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GACAAAAAACGTGAAGGAATA 0.547 NA 14 34 0 0 0.000308642 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:140237249G>C uc003lhx.2 + 1 1616 c.1616G>C c.(1615-1617)GGG>GCG p.G539A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 539 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687 NA 5 148 0 0 0.000602214 0 0 FCHSD1 89848 broad.mit.edu 37 5 141030648 141030648 + Nonsense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:141030648C>A uc003llk.2 - 2 109 c.58G>T c.(58-60)GAA>TAA p.E20* FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 20 FCH. FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCTGTTCCAGGAAGCGA 0.587 NA 5 6 0.00116845 0.00618046 0.00116845 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178541012 178541012 + Silent SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:178541012G>A uc003mjw.2 - 22 3492 c.3492C>T c.(3490-3492)CCC>CCT p.P1164P uc003mjv.3_5'Flank NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 1164 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGATTTTGTAGGGTTCATCTA 0.547 NA 30 103 0 0 0.00178596 0 0 CANX 821 broad.mit.edu 37 5 179151752 179151752 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:179151752G>A uc003mkk.2 + 13 1790 c.1613G>A c.(1612-1614)GGA>GAA p.G538E CANX_uc011dgp.1_Missense_Mutation_p.G573E|CANX_uc003mkl.2_Missense_Mutation_p.G538E|CANX_uc011dgq.1_Missense_Mutation_p.G430E NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 538 Cytoplasmic (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) aaggacaagggagatgaggag 0.274 NA 7 7 0 0 8.12818e-05 0 0 Unknown 0 broad.mit.edu 37 5 180651713 180651713 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:180651713C>T uc003mnb.1 - 2 499 c.179G>A c.(178-180)CGC>CAC p.R60H TRIM41_uc003mnc.1_Silent_p.C238C|TRIM41_uc003mnd.1_Silent_p.C238C|TRIM41_uc003mne.1_Silent_p.C238C|TRIM41_uc003mnf.1_RNA Homo sapiens cDNA FLJ36305 fis, clone THYMU2004677. NA AGCTCTTCTGCGAGGTAGACG 0.592 NA 22 43 0 0 0.00188189 0 0 UTRN 7402 broad.mit.edu 37 6 144875916 144875916 + Missense_Mutation SNP T T C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:144875916T>C uc003qkt.2 + 48 7113 c.7021T>C c.(7021-7023)TGG>CGG p.W2341R NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2341 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGTCTTCAGTGGGATGACCA 0.493 NA 4 67 0 0 0.00024832 0 0 PDE10A 10846 broad.mit.edu 37 6 165848820 165848820 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:165848820G>A uc003qun.2 - 7 653 c.412C>T c.(412-414)CGC>TGC p.R138C PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R68C|PDE10A_uc003quo.2_Missense_Mutation_p.R148C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 138 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGGATGAGGCGGGGTTTTCCT 0.488 Esophageal Squamous(22;308 615 5753 12038 40624) NA 11 55 0 0 0.00185496 0 0 ANKRD7 56311 broad.mit.edu 37 7 117876904 117876904 + Missense_Mutation SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr7:117876904G>C uc003vji.2 + 5 809 c.636G>C c.(634-636)CAG>CAC p.Q212H NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 212 ANK 5. male gonad development 0 TTCTTCTTCAGCAAGGTGTGG 0.393 NA 4 112 0 0 0.00116845 0 0 HSD17B3 3293 broad.mit.edu 37 9 98997839 98997839 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr9:98997839C>T uc004awa.1 - 11 884 c.836G>A c.(835-837)AGC>AAC p.S279N HSD17B3_uc010msc.1_Missense_Mutation_p.S229N NM_000197 NP_000188 P37058 DHB3_HUMAN estradiol 17 beta-dehydrogenase 3 279 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity 0 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CGGGATCAGGCTCAGAAAGCC 0.488 NA 11 10 0 0 0.000978159 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412156 23412156 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:23412156A>G uc004dal.3 + 3 2529 c.2521A>G c.(2521-2523)ATT>GTT p.I841V NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 841 Helical; (Potential). cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CTGCTTTGCCATTTTACCTGT 0.418 NA 35 76 0 0 0.000491102 0 0 WDR13 64743 broad.mit.edu 37 X 48460281 48460281 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:48460281C>A uc004dkh.1 + 7 1088 c.941C>A c.(940-942)GCC>GAC p.A314D WDR13_uc010nif.1_Missense_Mutation_p.A192D|WDR13_uc004dki.1_Missense_Mutation_p.A222D|WDR13_uc004dkj.1_Missense_Mutation_p.A314D|WDR13_uc004dkk.1_Missense_Mutation_p.A222D|WDR13_uc004dkl.3_Missense_Mutation_p.A222D NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 314 WD 3. cytoplasm|nucleus ovary(2) 2 TCCTTTGATGCCCCTGGCCGG 0.577 NA 11 37 5.50884e-06 3.11909e-05 0.00136819 1 0 CCNB3 85417 broad.mit.edu 37 X 50094701 50094701 + Nonstop_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:50094701A>G uc004dox.3 + 13 4485 c.4187A>G c.(4186-4188)TAG>TGG p.*1396W CCNB3_uc004doy.2_Nonstop_Mutation_p.*1396W|CCNB3_uc004doz.2_Nonstop_Mutation_p.*292W|CCNB3_uc010njq.2_Nonstop_Mutation_p.*288W|CCNB3_uc004dpa.2_Nonstop_Mutation_p.*235W NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1396 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CTGGTACTCTAGCAGCAGCCA 0.428 NA 5 48 0 0 0.000602214 0 0 FAM155B 27112 broad.mit.edu 37 X 68725635 68725635 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:68725635C>A uc004dxk.2 + 1 558 c.510C>A c.(508-510)GAC>GAA p.D170E NM_015686 NP_056501 O75949 F155B_HUMAN transmembrane protein 28 170 integral to membrane ovary(1)|breast(1) 2 GGCCCCCTGACTCCCTTTCCC 0.592 NA 11 34 6.40141e-05 0.000352516 0.000978159 1 0 PPAPDC1A 196051 broad.mit.edu 37 10 122280537 122280539 + In_Frame_Del DEL AAT AAT - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 AAT AAT - - AAT AAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:122280537_122280539delAAT uc001lev.1 + 5 727_729 c.375_377delAAT c.(373-378)GAAATG>GAG p.M126del PPAPDC1A_uc010qtd.1_In_Frame_Del_p.M126del|PPAPDC1A_uc009xzl.1_Intron|PPAPDC1A_uc001lew.1_Intron|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_In_Frame_Del_p.M5del NM_001030059 NP_001025230 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain 126 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1) 1 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TGAACTCGGAAATGCATTGCACA 0.493 NA 20 42 --- --- --- --- NA NA NA NA NA CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs1639122 byFrequency TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr12:6711145_6711147delTCC uc001qpo.2 - 4 581_583 c.417_419delGGA c.(415-420)GAGGAT>GAT p.E139del CHD4_uc001qpn.2_In_Frame_Del_p.E132del|CHD4_uc001qpp.2_In_Frame_Del_p.E136del NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.384 Colon(32;586 792 4568 16848 45314) NA 7 45 --- --- --- --- NA NA NA NA NA ABCC4 10257 broad.mit.edu 37 13 95818595 95818595 + Frame_Shift_Del DEL G G - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr13:95818595delG uc001vmd.3 - 15 1970 c.1851delC c.(1849-1851)TACfs p.Y617fs ABCC4_uc010afk.2_Frame_Shift_Del_p.Y617fs|ABCC4_uc001vme.2_Frame_Shift_Del_p.Y617fs|ABCC4_uc010tih.1_Frame_Shift_Del_p.Y542fs|ABCC4_uc001vmf.2_Frame_Shift_Del_p.Y574fs|ABCC4_uc010afl.1_Frame_Shift_Del_p.Y574fs|ABCC4_uc010afm.1_Frame_Shift_Del_p.Y630fs NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 617 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGAACTCAGTGTAAGTCCCCT 0.368 NA 9 57 --- --- --- --- NA NA NA NA NA SLC7A5 8140 broad.mit.edu 37 16 87870213 87870213 + Frame_Shift_Del DEL A A - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr16:87870213delA uc002fkm.2 - 8 1253 c.1181delT c.(1180-1182)TTCfs p.F394fs NM_003486 NP_003477 Q01650 LAT1_HUMAN solute carrier family 7 (cationic amino acid 394 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding 0 BRCA - Breast invasive adenocarcinoma(80;0.049) GATGACGGAGAAGATGTCCTT 0.612 NA 12 34 --- --- --- --- NA NA NA NA NA SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 CTC CTC - - CTC CTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr19:40929409_40929411delCTC uc002ont.3 - 2 202_204 c.43_45delGAG c.(43-45)GAGdel p.E15del NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.453 NA 7 78 --- --- --- --- NA NA NA NA NA TTC3 7267 broad.mit.edu 37 21 38555171 38555180 + Frame_Shift_Del DEL ATCACTGAAG ATCACTGAAG - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 ATCACTGAAG ATCACTGAAG - - ATCACTGAAG ATCACTGAAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr21:38555171_38555180delATCACTGAAG uc002yvz.2 + 36 4818_4827 c.4713_4722delATCACTGAAG c.(4711-4722)AAATCACTGAAGfs p.K1571fs TTC3_uc002ywa.2_Frame_Shift_Del_p.K1571fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.K1571fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.K1336fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.K1261fs|TTC3_uc002ywd.1_Frame_Shift_Del_p.K635fs NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1571_1574 Arg/Lys-rich (basic). protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AAAGACTAAAATCACTGAAGAAGAAAATTA 0.271 Ovarian(38;194 1649 35661) NA 9 34 --- --- --- --- NA NA NA NA NA PCDHA5 56143 broad.mit.edu 37 5 140202657 140202658 + Frame_Shift_Ins INS - - A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:140202657_140202658insA uc003lhl.2 + 1 1297_1298 c.1297_1298insA c.(1297-1299)TCGfs p.S433fs PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Frame_Shift_Ins_p.S433fs|PCDHA5_uc003lhj.1_Frame_Shift_Ins_p.S433fs NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 433 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTCGCCTTCGCTGTGGGCC 0.639 NA 44 141 --- --- --- --- NA NA NA NA NA FAM184A 79632 broad.mit.edu 37 6 119324685 119324686 + Frame_Shift_Ins INS - - A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:119324685_119324686insA uc003pyj.2 - 8 2265_2266 c.1917_1918insT c.(1915-1920)ATTAAGfs p.I639fs FAM184A_uc003pyk.3_Frame_Shift_Ins_p.I519fs|FAM184A_uc003pyl.3_Frame_Shift_Ins_p.I519fs NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 639_640 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TCAGTCCACTTAATTTCTAAGT 0.347 NA 24 50 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55249017 55249018 + In_Frame_Ins INS - - CCA TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr7:55249017_55249018insCCA uc003tqk.2 + 20 2561_2562 c.2315_2316insCCA c.(2314-2316)CCC>CCCCAC p.773_774insH EGFR_uc010kzg.1_In_Frame_Ins_p.728_729insH|EGFR_uc011kco.1_In_Frame_Ins_p.720_721insH|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 773_774 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.H773_V774insNPH(12)|p.P772_H773insPR(11)|p.H773R(9)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.P772_H773insYNP(2)|p.H773Y(2)|p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.H773_V774insGH(1)|p.H773L(1)|p.H773_V774insG(1)|p.P772_H773insQV(1)|p.H773_V774insGNPH(1)|p.H773>NPY(1)|p.H773_V774>LM(1)|p.P772_H773insDHP(1)|p.P772P(1)|p.P772_H773insDNP(1)|p.D770_P772>ASVDNR(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGGACAACCCCCACGTGTGCC 0.644 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 129 172 --- --- --- --- NA NA NA NA NA