Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRKCZ 5590 broad.mit.edu 37 1 1991000 1991000 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:1991000C>A uc001aiq.2 + 4 465 c.304C>A c.(304-306)CAG>AAG p.Q102K NM_002744 NP_002735 Q05513 KPCZ_HUMAN protein kinase C, zeta isoform 1 102 Interaction with SQSTM1 (By similarity). anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(2) 6 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CACCCCTGAGCAGCCTGGCCT 0.592 NA 6 26 1.07e-07 1.44e-07 1 0 DNAJC11 55735 broad.mit.edu 37 1 6697514 6697514 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:6697514G>A uc001aof.2 - 13 1480 c.1374C>T c.(1372-1374)TCC>TCT p.S458S DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.S406S|DNAJC11_uc010nzu.1_Silent_p.S368S NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 458 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CACCCATTCTGGACTCTTCTG 0.582 NA 96 67 0 0 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819809 70819809 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:70819809G>A uc001dex.3 - 1 609 c.283C>T c.(283-285)CTG>TTG p.L95L ANKRD13C_uc009wbk.2_Silent_p.L95L|ANKRD13C_uc001dey.3_Silent_p.L95L|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 95 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 GTGCCGGCCAGAAGGGCCGGG 0.672 NA 45 17 0 0 0 0 ELTD1 64123 broad.mit.edu 37 1 79412073 79412073 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:79412073C>T uc001diq.3 - 3 367 c.211G>A c.(211-213)GAA>AAA p.E71K NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 71 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTAGCATTTTCGCCACAGGAC 0.323 NA 18 11 0 0 0 0 GBP7 388646 broad.mit.edu 37 1 89613381 89613381 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:89613381G>A uc001dna.2 - 8 1373 c.1234C>T c.(1234-1236)CGG>TGG p.R412W GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 412 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TCTGAAAGCCGCTTAAGCTCA 0.438 NA 137 58 0 0 0 0 OLFM3 118427 broad.mit.edu 37 1 102312416 102312416 + Silent SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:102312416C>A uc001duf.2 - 1 185 c.114G>T c.(112-114)TCG>TCT p.S38S OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 38 extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TATCCGGAGTCGACAGCCTCG 0.473 NA 10 54 9.7e-10 1.32e-09 1 0 KCNA2 3737 broad.mit.edu 37 1 111146468 111146468 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:111146468C>A uc001dzu.2 - 2 1433 c.937G>T c.(937-939)GGT>TGT p.G313C KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.G313C NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 313 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATCTGGAGACCTTTGGAGTGT 0.502 NA 21 71 7.42e-09 1.01e-08 1 0 NBPF10 100132406 broad.mit.edu 37 1 145368630 145368630 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:145368630G>A uc001end.3 + 86 10868 c.10833G>A c.(10831-10833)TTG>TTA p.L3611L NBPF9_uc010oye.1_Silent_p.L895L|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.L464L|NBPF10_uc010oyk.1_Silent_p.L252L|NBPF10_uc010oyl.1_Silent_p.L252L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3536 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTTTACTTTGACGGTGACAA 0.463 NA 44 311 0 0 0 0 CRNN 49860 broad.mit.edu 37 1 152383333 152383333 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:152383333C>T uc001ezx.2 - 3 299 c.225G>A c.(223-225)CTG>CTA p.L75L NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 75 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACACTAAGACCAGGAATTCCT 0.542 NA 30 53 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183086740 183086740 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:183086740G>C uc001gpy.3 + 10 2016 c.1759G>C c.(1759-1761)GAT>CAT p.D587H NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 587 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACAGGCGAGATACTCGCCT 0.507 NA 67 43 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190068199 190068199 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:190068199C>T uc001gse.1 - 8 1482 c.1250G>A c.(1249-1251)GGC>GAC p.G417D FAM5C_uc010pot.1_Missense_Mutation_p.G315D NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 417 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGAAAAGCTGCCTAGGAGGCC 0.517 NA 4 42 0 0 0 0 ITPKB 3707 broad.mit.edu 37 1 226923395 226923395 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:226923395G>A uc010pvo.1 - 2 2105 c.1765C>T c.(1765-1767)CCT>TCT p.P589S ITPKB_uc001hqh.2_Missense_Mutation_p.P589S NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 589 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TTGCCCCGAGGGCTTCCCTGC 0.597 NA 11 35 0 0 0 0 ERCC6 2074 broad.mit.edu 37 10 50678260 50678260 + Missense_Mutation SNP T T A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:50678260T>A uc001jhs.3 - 18 3900 c.3746A>T c.(3745-3747)GAT>GTT p.D1249V ERCC6_uc009xod.2_Missense_Mutation_p.D409V|ERCC6_uc010qgr.1_Missense_Mutation_p.D619V|ERCC6_uc001jhr.3_Missense_Mutation_p.D617V NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1249 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 CAAAACATAATCGTCATTGCT 0.408 NA Direct_reversal_of_damage|NER 113 89 0 0 0 0 UNC5B 219699 broad.mit.edu 37 10 73050851 73050851 + Missense_Mutation SNP A A C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:73050851A>C uc001jro.2 + 9 1724 c.1279A>C c.(1279-1281)AAG>CAG p.K427Q UNC5B_uc001jrp.2_Missense_Mutation_p.K416Q NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 427 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 CGTCAACTTTAAGACGGCAAG 0.607 NA 19 178 0 0 0 0 CYP2E1 1571 broad.mit.edu 37 10 135347301 135347301 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:135347301C>G uc001lnj.1 + 6 900 c.867C>G c.(865-867)ATC>ATG p.I289M CYP2E1_uc001lnk.1_Missense_Mutation_p.I152M|CYP2E1_uc009ybl.1_Missense_Mutation_p.I90M|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.I90M NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 289 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TGGACGGTATCACCGTGACTG 0.527 NA Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 29 130 0 0 0 0 FRG2B 441581 broad.mit.edu 37 10 135438868 135438868 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:135438868G>A uc010qvg.1 - 4 625 c.572C>T c.(571-573)GCC>GTC p.A191V NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 191 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCACACCTGGGCTAGGTCTTG 0.572 NA 10 101 0 0 0 0 PDHX 8050 broad.mit.edu 37 11 34988327 34988327 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:34988327C>T uc001mvt.2 + 6 1308 c.782C>T c.(781-783)CCA>CTA p.P261L PDHX_uc010rep.1_Missense_Mutation_p.P246L|PDHX_uc010req.1_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 261 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) CCTGTGATCCCACCAGTATCA 0.438 NA 24 41 0 0 0 0 OR4C46 119749 broad.mit.edu 37 11 51516007 51516007 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:51516007C>T uc010ric.1 + 1 726 c.726C>T c.(724-726)ATC>ATT p.I242I NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCTCCCACATCACGGTTGTCA 0.468 NA 23 45 0 0 0 0 FKBP2 2286 broad.mit.edu 37 11 64009862 64009862 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64009862G>T uc001nyy.2 + 2 199 c.3G>T c.(1-3)ATG>ATT p.M1I FKBP2_uc010rnh.1_Missense_Mutation_p.M1I|FKBP2_uc001nyz.2_Missense_Mutation_p.M1I NM_004470 NP_004461 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa precursor 1 protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding 0 ACAGAGACATGAGGCTGAGCT 0.647 NA 14 104 3.46e-05 4.56e-05 1 0 FKBP2 2286 broad.mit.edu 37 11 64011493 64011493 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64011493G>C uc001nyy.2 + 6 617 c.421G>C c.(421-423)GAG>CAG p.E141Q FKBP2_uc010rnh.1_Missense_Mutation_p.E141Q|FKBP2_uc001nyz.2_Missense_Mutation_p.E141Q NM_004470 NP_004461 P26885 FKBP2_HUMAN FK506 binding protein 2, 13kDa precursor 141 Prevents secretion from ER (Potential). protein folding endoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding 0 GCGACGAACTGAGCTGTAACC 0.488 NA 16 136 0 0 0 0 NRXN2 9379 broad.mit.edu 37 11 64390422 64390422 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64390422C>T uc001oap.2 - 6 1349 c.838G>A c.(838-840)GAG>AAG p.E280K NRXN2_uc001oar.2_Missense_Mutation_p.E1326K|NRXN2_uc001oas.2_Missense_Mutation_p.E1256K|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.E993K NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 280 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GGGTCGCTCTCGGCGGCCAGC 0.706 NA 19 5 0 0 0 0 NRXN2 9379 broad.mit.edu 37 11 64457916 64457916 + Missense_Mutation SNP C C A rs138744105 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:64457916C>A uc001oar.2 - 6 1250 c.811G>T c.(811-813)GGG>TGG p.G271W NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCTCCTCTCCCGGCCCCCCCC 0.642 NA 8 47 0.000442599 0.000566632 1 0 DHCR7 1717 broad.mit.edu 37 11 71148918 71148918 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:71148918G>A uc001oqk.2 - 8 1153 c.903C>T c.(901-903)CAC>CAT p.H301H DHCR7_uc001oql.2_Silent_p.H301H NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 301 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) ACCACCCGAAGTGGTCATGGC 0.582 NA Smith-Lemli-Opitz_syndrome 12 93 0 0 0 0 MMP1 4312 broad.mit.edu 37 11 102663445 102663445 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr11:102663445G>C uc001phi.2 - 7 1067 c.924C>G c.(922-924)TTC>TTG p.F308L uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.F242L NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 308 Hemopexin-like 1. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CTTCCGGGTAGAAGGGATTTG 0.433 NA 17 41 0 0 0 0 PPHLN1 51535 broad.mit.edu 37 12 42792759 42792759 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:42792759C>G uc001rng.1 + 9 977 c.872C>G c.(871-873)TCT>TGT p.S291C PPHLN1_uc001rmy.2_Missense_Mutation_p.S309C|PPHLN1_uc001rna.2_Missense_Mutation_p.S243C|PPHLN1_uc001rne.2_Missense_Mutation_p.S279C|PPHLN1_uc001rnb.2_Missense_Mutation_p.S298C|PPHLN1_uc001rnd.2_Missense_Mutation_p.S243C|PPHLN1_uc001rnc.2_Missense_Mutation_p.S291C|PPHLN1_uc001rnf.2_Missense_Mutation_p.S272C|PPHLN1_uc010skq.1_Missense_Mutation_p.S217C|PPHLN1_uc010skr.1_Missense_Mutation_p.S236C|PPHLN1_uc010sks.1_Missense_Mutation_p.S217C|PPHLN1_uc010skt.1_Missense_Mutation_p.S171C|PPHLN1_uc001rni.1_Missense_Mutation_p.S236C|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.S224C|PPHLN1_uc001rnj.2_Missense_Mutation_p.S107C NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN periphilin 1 isoform 1 291 keratinization cytoplasm|nucleus ovary(1)|breast(1) 2 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) ACCACTCGCTCTAAAGCAATA 0.393 NA 21 43 0 0 0 0 NELL2 4753 broad.mit.edu 37 12 44913891 44913891 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:44913891C>G uc001rog.2 - 19 2892 c.2297G>C c.(2296-2298)CGC>CCC p.R766P NELL2_uc001rof.3_Missense_Mutation_p.R765P|NELL2_uc001roh.2_Missense_Mutation_p.R766P|NELL2_uc009zkd.2_Missense_Mutation_p.R718P|NELL2_uc010skz.1_Missense_Mutation_p.R816P|NELL2_uc010sla.1_Missense_Mutation_p.R789P NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 766 VWFC 5. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GATGTCATTGCGGATGGTGTC 0.552 NA 10 74 0 0 0 0 KRT5 3852 broad.mit.edu 37 12 52912854 52912854 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:52912854C>A uc001san.2 - 2 809 c.646G>T c.(646-648)GAG>TAG p.E216* KRT5_uc009zmh.2_Nonsense_Mutation_p.E216* NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 216 Rod.|Linker 1. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) AACAACGGCTCCAGGTTCTGC 0.602 NA 43 77 4.16e-14 5.77e-14 1 0 ITGA7 3679 broad.mit.edu 37 12 56087845 56087845 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:56087845G>A uc001shh.2 - 19 2727 c.2507C>T c.(2506-2508)TCT>TTT p.S836F ITGA7_uc001shg.2_Missense_Mutation_p.S832F|ITGA7_uc010sps.1_Missense_Mutation_p.S739F|ITGA7_uc009znw.2_Missense_Mutation_p.S79F|ITGA7_uc009znx.2_Missense_Mutation_p.S713F NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 876 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 ATCCCGCTCAGACTGCATGGC 0.592 NA 4 21 0 0 0 0 MYO1H 283446 broad.mit.edu 37 12 109863801 109863801 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:109863801C>G uc010sxn.1 + 17 1728 c.1728C>G c.(1726-1728)ATC>ATG p.I576M NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 AAACCCTCATCTCTAAGGAGC 0.408 NA 12 38 0 0 0 0 VPS33A 65082 broad.mit.edu 37 12 122723220 122723220 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:122723220C>A uc001ucd.2 - 10 1329 c.1216G>T c.(1216-1218)GTG>TTG p.V406L VPS33A_uc001ucc.2_RNA NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 406 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGTCTTAACACCTTGATCAAC 0.308 NA 61 124 3.14e-25 4.42e-25 1 0 EIF2B1 1967 broad.mit.edu 37 12 124107222 124107222 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:124107222G>A uc001ufm.2 - 8 857 c.714C>T c.(712-714)CTC>CTT p.L238L EIF2B1_uc001ufn.2_Silent_p.L236L NM_001414 NP_001405 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, 238 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TTAGTGGAAAGAGCCGGACAA 0.418 NA 16 79 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184841 130184841 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:130184841G>T uc009zyl.1 - 2 810 c.482C>A c.(481-483)GCC>GAC p.A161D NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 161 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTCTCCCCGGCGCTGCGGTC 0.642 NA 7 24 8.13e-05 0.000105618 1 0 POLE 5426 broad.mit.edu 37 12 133245062 133245062 + Missense_Mutation SNP G G A rs116326665 by1000genomes TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr12:133245062G>A uc001uks.1 - 19 2097 c.2053C>T c.(2053-2055)CGG>TGG p.R685W POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R658W NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 685 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGCTGGATCCGATGGTATTCG 0.592 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 41 85 0 0 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050072 36050072 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:36050072G>A uc001uvc.2 - 1 761 c.204C>T c.(202-204)GTC>GTT p.V68V NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 68 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) TGGGGGAGATGACCTCGAGGC 0.552 NA 24 64 0 0 0 0 RCBTB1 55213 broad.mit.edu 37 13 50123786 50123786 + Splice_Site SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:50123786T>C uc001vde.1 - 9 1116 c.855_splice c.e9-1 p.R285_splice NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TCTACCACCCTGAAAAGTTTT 0.502 NA 3 60 0 0 0 0 PCDH20 64881 broad.mit.edu 37 13 61987588 61987588 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:61987588G>A uc001vid.3 - 2 1008 c.644C>T c.(643-645)TCG>TTG p.S215L PCDH20_uc010thj.1_Missense_Mutation_p.S215L NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 188 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GACCCACACCGAGATCTGGGA 0.532 NA 18 63 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99476728 99476728 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:99476728C>A uc001vnt.2 - 46 5112 c.5057G>T c.(5056-5058)AGG>ATG p.R1686M DOCK9_uc001vnw.2_Missense_Mutation_p.R1685M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1663M|DOCK9_uc001vnq.2_Missense_Mutation_p.R235M|DOCK9_uc001vnr.2_Missense_Mutation_p.R329M|DOCK9_uc010tin.1_Missense_Mutation_p.R306M|DOCK9_uc001vns.2_Missense_Mutation_p.R235M|DOCK9_uc010tio.1_Missense_Mutation_p.R355M|DOCK9_uc010tip.1_Missense_Mutation_p.R396M|DOCK9_uc001vnu.1_Missense_Mutation_p.R235M|DOCK9_uc010tiq.1_Missense_Mutation_p.R641M NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1686 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGTAATGACCCTGAAGGCGGT 0.542 NA 30 85 9.65e-13 1.33e-12 1 0 PCCA 5095 broad.mit.edu 37 13 100982841 100982841 + Nonsense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:100982841C>T uc001voo.2 + 17 1494 c.1456C>T c.(1456-1458)CGA>TGA p.R486* PCCA_uc010aga.2_Nonsense_Mutation_p.R460*|PCCA_uc010tiz.1_Nonsense_Mutation_p.R486*|PCCA_uc001vop.2_RNA NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 486 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGCATTACTTCGAGAGGTGAT 0.323 NA 5 31 0 0 0 0 LIG4 3981 broad.mit.edu 37 13 108863582 108863582 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr13:108863582G>C uc001vqn.2 - 2 308 c.35C>G c.(34-36)TCT>TGT p.S12C LIG4_uc001vqo.2_Missense_Mutation_p.S12C|LIG4_uc010agg.1_Intron|LIG4_uc010agf.2_Missense_Mutation_p.S12C|LIG4_uc001vqp.2_Missense_Mutation_p.S12C NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 12 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGGAACGTGAGATGCAACAGT 0.353 NA NHEJ 8 24 0 0 0 0 DHRS2 10202 broad.mit.edu 37 14 24114362 24114362 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr14:24114362C>G uc001wkt.3 + 9 1201 c.754C>G c.(754-756)CAG>GAG p.Q252E DHRS2_uc001wku.3_Nonsense_Mutation_p.S248*|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.V249V NM_182908 NP_878912 Q13268 DHRS2_HUMAN dehydrogenase/reductase member 2 isoform 1 Error:Variant_position_missing_in_Q13268_after_alignment C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00659) ATTGGGGAGTCAGAGGACTGT 0.567 NA 33 111 0 0 0 0 C15orf24 56851 broad.mit.edu 37 15 34380295 34380295 + Silent SNP G G A rs151160666 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:34380295G>A uc001zhm.2 - 4 548 c.535C>T c.(535-537)CTG>TTG p.L179L C15orf24_uc001zhn.2_Silent_p.L62L NM_020154 NP_064539 Q9NPA0 CO024_HUMAN chromosome 15 open reading frame 24 precursor 179 Helical; (Potential). cytoplasm|integral to membrane carbohydrate binding|carboxypeptidase activity|purine nucleotide binding 0 all_lung(180;1.76e-08) all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) ACTTTAGGCAGAAGCACAAAT 0.308 NA 3 22 0 0 0 0 DISP2 85455 broad.mit.edu 37 15 40655921 40655921 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:40655921C>T uc001zlk.1 + 2 304 c.215C>T c.(214-216)CCC>CTC p.P72L NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 72 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTTCAGGACCCCCACCAACA 0.657 NA 36 65 0 0 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132731 42132731 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42132731C>G uc010bco.2 + 3 193 c.92C>G c.(91-93)TCT>TGT p.S31C JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.S262C|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 31 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 GTGACCCCCTCTGACTGCTAC 0.622 NA 17 62 0 0 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132977 42132977 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42132977C>T uc010bco.2 + 4 326 c.225C>T c.(223-225)GTC>GTT p.V75V JMJD7-PLA2G4B_uc001zoo.3_Silent_p.V306V|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.V306V|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 75 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 TCCAGAATGTCATGGAACTGA 0.592 NA 20 62 0 0 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42133453 42133453 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42133453C>T uc010bco.2 + 6 518 c.417C>T c.(415-417)GTC>GTT p.V139V JMJD7-PLA2G4B_uc001zoo.3_Silent_p.V370V|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.V370V|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 139 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 AGTGGCTCGTCAGCAATGGCG 0.667 NA 17 85 0 0 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42134763 42134763 + Missense_Mutation SNP G G A rs2290552 by1000genomes TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42134763G>A uc010bco.2 + 10 818 c.717G>A c.(715-717)ATG>ATA p.M239I JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.M470I|JMJD7-PLA2G4B_uc001zoq.3_Intron|JMJD7-PLA2G4B_uc001zor.1_5'UTR NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 239 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 AGCCCCTGATGAGAGTGGAGC 0.637 NA 7 37 0 0 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42134775 42134775 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:42134775G>A uc010bco.2 + 10 830 c.729G>A c.(727-729)CTG>CTA p.L243L JMJD7-PLA2G4B_uc001zoo.3_Silent_p.L474L|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.L474L|JMJD7-PLA2G4B_uc001zoq.3_Intron|JMJD7-PLA2G4B_uc001zor.1_5'UTR NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 243 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 GAGTGGAGCTGAAAAAAGAAG 0.627 NA 7 38 0 0 0 0 WDR76 79968 broad.mit.edu 37 15 44158387 44158387 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:44158387G>A uc001zti.1 + 13 1701 c.1678G>A c.(1678-1680)GAA>AAA p.E560K NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 560 WD 6. 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TCCTAAACAAGAAGACTGTGT 0.458 NA 16 54 0 0 0 0 DUOXA2 405753 broad.mit.edu 37 15 45408913 45408913 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:45408913C>T uc001zuo.2 + 4 820 c.540C>T c.(538-540)GCC>GCT p.A180A DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN dual oxidase activator 2 180 Extracellular (Potential). protein transport endoplasmic reticulum membrane|integral to membrane 0 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GACACTACGCCTCGGCCACGC 0.647 NA 7 17 0 0 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678901 65678901 + Missense_Mutation SNP C C T rs147594173 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:65678901C>T uc002aou.1 - 17 3149 c.2939G>A c.(2938-2940)CGC>CAC p.R980H IGDCC4_uc002aot.1_Missense_Mutation_p.R568H NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 980 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GTGGGGGCTGCGGCGCAGGCC 0.632 NA OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 0 0 ITGA11 22801 broad.mit.edu 37 15 68605146 68605146 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:68605146C>T uc002ari.2 - 24 3025 c.2938G>A c.(2938-2940)GAT>AAT p.D980N ITGA11_uc010bib.2_Missense_Mutation_p.D980N NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 980 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CCGATACCATCGTATCTCTCC 0.637 NA 7 29 0 0 0 0 OR4F4 26682 broad.mit.edu 37 15 102462360 102462360 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr15:102462360A>G uc002cdf.1 - 1 903 c.903T>C c.(901-903)TCT>TCC p.S301S NM_001004195 NP_001004195 Q96R69 OR4F4_HUMAN olfactory receptor, family 4, subfamily F, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ACTTTACACTAGAATGTGCAT 0.343 NA 23 267 0 0 0 0 ARL6IP1 23204 broad.mit.edu 37 16 18809332 18809332 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:18809332C>G uc002dfl.1 - 3 274 c.205G>C c.(205-207)GGC>CGC p.G69R ARL6IP1_uc010van.1_Missense_Mutation_p.G40R|ARL6IP1_uc010bvz.1_RNA NM_015161 NP_055976 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting 69 Helical; (Potential). integral to membrane protein binding 0 CAGGAAACGCCGGACAGAACA 0.343 NA 7 44 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20975470 20975470 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:20975470G>C uc010vbe.1 - 53 9736 c.9736C>G c.(9736-9738)CTC>GTC p.L3246V DNAH3_uc010vbd.1_Missense_Mutation_p.L681V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3246 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GACATGGAGAGAACCTCCAAG 0.443 NA 33 98 0 0 0 0 LONP2 83752 broad.mit.edu 37 16 48382183 48382183 + Silent SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:48382183G>C uc002efi.1 + 14 2408 c.2319G>C c.(2317-2319)CTG>CTC p.L773L LONP2_uc002efj.1_Silent_p.L729L NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 773 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 AAATTACACTGAGAGGTCTTG 0.348 NA 31 112 0 0 0 0 CHD9 80205 broad.mit.edu 37 16 53272475 53272475 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:53272475G>A uc002ehb.2 + 11 3018 c.2854G>A c.(2854-2856)GAG>AAG p.E952K CHD9_uc002egy.2_Missense_Mutation_p.E952K|CHD9_uc002eha.1_Missense_Mutation_p.E952K|CHD9_uc002ehc.2_Missense_Mutation_p.E952K|CHD9_uc002ehf.2_Missense_Mutation_p.E66K|CHD9_uc002ehd.2_Missense_Mutation_p.E478K|CHD9_uc002ehe.1_Missense_Mutation_p.E66K NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 952 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACAGCAATACGAGATGTACTT 0.373 NA 46 127 0 0 0 0 VPS53 55275 broad.mit.edu 37 17 617910 617910 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:617910C>G uc002frn.2 - 1 187 c.40G>C c.(40-42)GAA>CAA p.E14Q VPS53_uc010cjo.1_Missense_Mutation_p.E14Q|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E14Q|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.E14Q NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 14 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) AGCACGGCTTCCAGCTCCTCC 0.701 NA 16 99 0 0 0 0 ZNF594 84622 broad.mit.edu 37 17 5087253 5087253 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:5087253C>T uc010cla.1 - 2 455 c.299G>A c.(298-300)AGA>AAA p.R100K NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 AACCTCATATCTATGGGAGCT 0.373 NA 12 57 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10296300 10296300 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:10296300C>A uc002gmm.2 - 37 5406 c.5311G>T c.(5311-5313)GAG>TAG p.E1771* uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1771 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTCTTCAGCTCCTCAGCCATC 0.483 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 36 147 6.71e-13 9.24e-13 1 0 KIAA0100 9703 broad.mit.edu 37 17 26960318 26960318 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:26960318G>A uc002hbu.2 - 19 3666 c.3567C>T c.(3565-3567)AAC>AAT p.N1189N NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1189 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CTGTTCTCACGTTGATATCCA 0.512 NA 26 123 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36482452 36482452 + Nonsense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:36482452C>A uc002hpz.2 - 11 7021 c.7000G>T c.(7000-7002)GAG>TAG p.E2334* NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 2334 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GACTGAGACTCAGCTTCCTGG 0.507 NA 29 135 1.75e-13 2.42e-13 1 0 DHX8 1659 broad.mit.edu 37 17 41584941 41584941 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:41584941T>C uc002idu.1 + 14 2067 c.1994T>C c.(1993-1995)ATG>ACG p.M665T DHX8_uc010wif.1_Missense_Mutation_p.M574T|DHX8_uc010wig.1_Missense_Mutation_p.M665T NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 665 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACAGATGGGATGTTGCTTAGA 0.478 NA 13 60 0 0 0 0 CHAD 1101 broad.mit.edu 37 17 48542772 48542772 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:48542772C>T uc010dbr.2 - 3 1020 c.967G>A c.(967-969)GAT>AAT p.D323N ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.D323N|ACSF2_uc010dbt.1_5'Flank NM_001267 NP_001258 O15335 CHAD_HUMAN chondroadherin precursor 323 LRRCT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent ovary(2)|central_nervous_system(1) 3 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CAGGTGGCATCTGGGCGGGAG 0.617 NA 12 52 0 0 0 0 ACE 1636 broad.mit.edu 37 17 61571742 61571742 + Nonsense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:61571742C>G uc002jau.1 + 22 3313 c.3291C>G c.(3289-3291)TAC>TAG p.Y1097* ACE_uc002jav.1_Nonsense_Mutation_p.Y523*|ACE_uc010ddv.1_Nonsense_Mutation_p.Y324*|ACE_uc010wpj.1_Nonsense_Mutation_p.Y523*|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Nonsense_Mutation_p.Y343* NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 1097 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGCTGAAGTACCAGGGCCTCT 0.552 NA 4 45 0 0 0 0 SEPT9 10801 broad.mit.edu 37 17 75484325 75484325 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:75484325T>C uc002jts.3 + 6 1172 c.1046T>C c.(1045-1047)ATT>ACT p.I349T SEPT9_uc010wtk.1_Missense_Mutation_p.I330T|SEPT9_uc002jtt.3_Missense_Mutation_p.I185T|SEPT9_uc002jtu.3_Missense_Mutation_p.I331T|SEPT9_uc002jtv.2_Missense_Mutation_p.I342T|SEPT9_uc002jtw.2_Missense_Mutation_p.I185T|SEPT9_uc010wtl.1_Missense_Mutation_p.I125T|SEPT9_uc002jty.3_Missense_Mutation_p.I98T|SEPT9_uc010wtm.1_Missense_Mutation_p.I98T|SEPT9_uc010wtn.1_Missense_Mutation_p.I98T|SEPT9_uc010dhd.2_Missense_Mutation_p.I237T NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 349 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) TGTGCAGATATTGAGGAGAAA 0.612 NA 27 42 0 0 0 0 TMC6 11322 broad.mit.edu 37 17 76113582 76113582 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:76113582G>A uc002juj.1 - 16 2291 c.2165C>T c.(2164-2166)ACC>ATC p.T722I TMC6_uc002jui.1_Missense_Mutation_p.T301I|TMC6_uc010dhf.1_Missense_Mutation_p.T555I|TMC6_uc002juk.2_Missense_Mutation_p.T722I|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.T722I NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 722 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GACAAAGAAGGTGTTTTCCAT 0.682 NA Epidermodysplasia_Verruciformis_Familial_Clustering_of 4 7 0 0 0 0 USP36 57602 broad.mit.edu 37 17 76832439 76832439 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:76832439T>C uc002jvz.1 - 3 332 c.7A>G c.(7-9)ATA>GTA p.I3V USP36_uc002jwa.1_Missense_Mutation_p.I3V|USP36_uc002jwd.1_Missense_Mutation_p.I3V NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 3 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TTATCCACTATTGGCATGGTG 0.493 NA 23 41 0 0 0 0 CCDC57 284001 broad.mit.edu 37 17 80146213 80146213 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:80146213C>G uc002kdz.1 - 8 1289 c.934G>C c.(934-936)GAG>CAG p.E312Q CCDC57_uc002kdx.1_Missense_Mutation_p.E312Q NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 312 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GTCTGCAGCTCCTGCAGCTGC 0.642 NA 5 12 0 0 0 0 CD97 976 broad.mit.edu 37 19 14512333 14512333 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:14512333C>T uc002myl.2 + 10 1156 c.1033C>T c.(1033-1035)CTG>TTG p.L345L CD97_uc002mym.2_Silent_p.L296L|CD97_uc002myn.2_Silent_p.L252L NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 345 Extracellular (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 GGCCAAGAGCCTGCCTAAAGG 0.622 NA 7 51 0 0 0 0 CD79A 973 broad.mit.edu 37 19 42383229 42383229 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:42383229G>A uc002orv.2 + 2 434 c.249G>A c.(247-249)CCG>CCA p.P83P CD79A_uc002oru.2_Silent_p.P83P NM_001783 NP_001774 P11912 CD79A_HUMAN CD79A antigen isoform 1 precursor 83 Ig-like C2-type.|Extracellular (Potential). B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity ovary(2)|pancreas(1) 3 TCTTGGGCCCGGGCGAGGACC 0.602 NA O|S DLBCL 6 100 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56459551 56459551 + Nonsense_Mutation SNP C C T rs145469757 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:56459551C>T uc002qmh.2 + 1 354 c.283C>T c.(283-285)CGA>TGA p.R95* NLRP8_uc010etg.2_Nonsense_Mutation_p.R95* NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 95 DAPIN. 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) TTTCCCTGGACGACGCGCTTG 0.512 NA 13 26 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57335633 57335633 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr19:57335633C>T uc002qnu.2 - 1 742 c.391G>A c.(391-393)GAA>AAA p.E131K ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.E5K|ZIM2_uc002qnq.2_Missense_Mutation_p.E5K|ZIM2_uc010etp.2_Missense_Mutation_p.E5K|ZIM2_uc010ygs.1_Missense_Mutation_p.E5K|PEG3_uc002qnt.2_Missense_Mutation_p.E131K|PEG3_uc002qnv.2_Missense_Mutation_p.E131K|PEG3_uc002qnw.2_Missense_Mutation_p.E5K|PEG3_uc002qnx.2_Missense_Mutation_p.E5K|PEG3_uc010etr.2_Missense_Mutation_p.E131K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 131 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCTCACCTTCTGGTTGGTAC 0.423 NA 14 102 0 0 0 0 KCNS3 3790 broad.mit.edu 37 2 18112572 18112572 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:18112572C>T uc002rcv.2 + 3 748 c.297C>T c.(295-297)TTC>TTT p.F99F KCNS3_uc002rcw.2_Silent_p.F99F NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 99 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TATTCTCATTCTGCCAGGAGA 0.468 NA 37 77 0 0 0 0 KCNS3 3790 broad.mit.edu 37 2 18113212 18113212 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:18113212C>T uc002rcv.2 + 3 1388 c.937C>T c.(937-939)CTA>TTA p.L313L KCNS3_uc002rcw.2_Silent_p.L313L NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 313 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACTTCGGTCTCTAGGTGCCAC 0.498 NA 44 103 0 0 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452849 43452849 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:43452849C>T uc002rsv.3 - 2 385 c.94G>A c.(94-96)GAC>AAC p.D32N LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 32 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GCCTTCTTGTCCAGCATGTTG 0.642 NA 7 18 0 0 0 0 TACR1 6869 broad.mit.edu 37 2 75347732 75347732 + Nonsense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:75347732C>T uc002sng.2 - 2 1137 c.552G>A c.(550-552)TGG>TGA p.W184* TACR1_uc002snh.2_Nonsense_Mutation_p.W184* NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 184 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GATGCTCTGGCCATTCGATCA 0.547 NA 16 104 0 0 0 0 C2orf55 343990 broad.mit.edu 37 2 99448936 99448936 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:99448936G>A uc002szf.1 - 5 709 c.415C>T c.(415-417)CCT>TCT p.P139S NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 139 0 CCCCCTGGAGGAGGTGGTGGC 0.502 NA 24 48 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170009390 170009390 + Missense_Mutation SNP C C T rs142934522 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:170009390C>T uc002ues.2 - 67 12593 c.12380G>A c.(12379-12381)CGC>CAC p.R4127H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4127 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGATTATTGCGGCCGGATTC 0.473 NA 94 245 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 39 75 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179606289 179606289 + Missense_Mutation SNP T T G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:179606289T>G uc010zfh.1 - 46 11382 c.11158A>C c.(11158-11160)ACA>CCA p.T3720P TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3653P|TTN_uc010zfj.1_Missense_Mutation_p.T3528P|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GCCATACATGTATACTCTCCC 0.393 NA 18 126 0 0 0 0 ABCB6 10058 broad.mit.edu 37 2 220078866 220078866 + Nonsense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr2:220078866G>A uc002vkc.1 - 8 1706 c.1429C>T c.(1429-1431)CGA>TGA p.R477* ABCB6_uc010fwe.1_Nonsense_Mutation_p.R431*|ABCB6_uc010zku.1_RNA NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 477 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGCCTCTCGATAGCGTTCC 0.478 NA 34 103 0 0 0 0 DEFB127 140850 broad.mit.edu 37 20 139650 139650 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:139650G>A uc002wcy.1 + 2 285 c.285G>A c.(283-285)AAG>AAA p.K95K NM_139074 NP_620713 Q9H1M4 DB127_HUMAN defensin, beta 127 preproprotein 95 defense response to bacterium|innate immune response extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CAAGCCTGAAGACACAGTCTA 0.353 NA 8 30 0 0 0 0 C20orf3 57136 broad.mit.edu 37 20 24944531 24944531 + Missense_Mutation SNP T T G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:24944531T>G uc002wty.2 - 9 1270 c.1169A>C c.(1168-1170)GAG>GCG p.E390A C20orf3_uc002wtz.2_Missense_Mutation_p.E398A|C20orf3_uc010zsw.1_3'UTR NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN chromosome 20 open reading frame 3 390 Extracellular (Potential). biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity ovary(1) 1 TTCGTGCACCTCGCTGATGTA 0.612 NA 52 57 0 0 0 0 GDF5 8200 broad.mit.edu 37 20 34022225 34022225 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:34022225C>A uc002xck.1 - 2 1307 c.988G>T c.(988-990)GAC>TAC p.D330Y GDF5_uc010gfc.1_Missense_Mutation_p.D330Y|uc002xcj.2_Silent_p.V212V|GDF5_uc010zvc.1_Missense_Mutation_p.D330Y NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 330 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GCGGCGCGGTCGAAGCCCAGG 0.632 NA 4 37 0.00024832 0.000320747 1 0 GDF5 8200 broad.mit.edu 37 20 34025402 34025402 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:34025402C>T uc002xck.1 - 1 626 c.307G>A c.(307-309)GGC>AGC p.G103S GDF5_uc010gfc.1_Missense_Mutation_p.G103S|GDF5_uc010zvc.1_Missense_Mutation_p.G103S NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 103 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGTTCAGGGCCGCCCGGTCTG 0.632 NA 29 46 0 0 0 0 ZNFX1 57169 broad.mit.edu 37 20 47870298 47870298 + Missense_Mutation SNP T T A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:47870298T>A uc002xui.2 - 11 3257 c.3010A>T c.(3010-3012)ATA>TTA p.I1004L NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1004 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCTTCCACTATGACAATCCTC 0.527 NA 109 213 0 0 0 0 RBM38 55544 broad.mit.edu 37 20 55982844 55982844 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr20:55982844C>T uc010zzj.1 + 4 837 c.662C>T c.(661-663)GCG>GTG p.A221V RBM38_uc010zzk.1_3'UTR NM_017495 NP_059965 Q9H0Z9 RBM38_HUMAN RNA-binding region containing protein 1 isoform 221 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|cytosol|nucleus|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding 0 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) GCAGCACCCGCGGGCACCACT 0.682 NA 3 10 0 0 0 0 C2CD2 25966 broad.mit.edu 37 21 43338269 43338269 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr21:43338269G>C uc002yzw.2 - 5 907 c.665C>G c.(664-666)TCT>TGT p.S222C C2CD2_uc002yzu.2_Missense_Mutation_p.S54C|C2CD2_uc002yzv.2_Missense_Mutation_p.S67C|C2CD2_uc002yzx.1_Missense_Mutation_p.S67C NM_015500 NP_056315 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 isoform 222 cytosol|extracellular region|nucleus ovary(1) 1 TGGAGAGGCAGAACCAGCCAA 0.512 NA 31 46 0 0 0 0 C21orf58 54058 broad.mit.edu 37 21 47737162 47737162 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr21:47737162C>G uc002zjf.2 - 4 1464 c.330G>C c.(328-330)CAG>CAC p.Q110H C21orf58_uc002ziz.2_Missense_Mutation_p.Q27H|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_Missense_Mutation_p.Q27H|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA NM_058180 NP_478060 P58505 CU058_HUMAN hypothetical protein LOC54058 110 pancreas(1) 1 Breast(49;0.112) Colorectal(79;0.239) CTTCCACGTTCTGCCGTTCTT 0.602 NA 6 12 0 0 0 0 PEX26 55670 broad.mit.edu 37 22 18570779 18570779 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:18570779C>T uc002znp.3 + 6 1065 c.856C>T c.(856-858)CTC>TTC p.L286F TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.L286F|PEX26_uc002znt.2_Missense_Mutation_p.L237F NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 286 Peroxisomal matrix (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 GCTGGCCCAGCTCTTCCGCTG 0.617 NA 98 192 0 0 0 0 GSTT1 2952 broad.mit.edu 37 22 24379500 24379500 + Missense_Mutation SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:24379500A>G uc002zze.3 - 3 265 c.212T>C c.(211-213)CTG>CCG p.L71P GSTT1_uc002zzf.3_Intron|GSTT1_uc010gug.2_Intron|GSTT1_uc011ajl.1_5'UTR|GSTT1_uc010guh.2_Intron NM_000853 NP_000844 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 71 GST N-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity ovary(1) 1 Glutathione(DB00143) CAGGTAGAGCAGGATGGCCAC 0.512 NA Myelodysplasia_and_Acute_Myeloid_Leukemia_(AML)_Familial 16 72 0 0 0 0 APOL1 8542 broad.mit.edu 37 22 36657700 36657700 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:36657700G>A uc003apf.2 + 5 414 c.246G>A c.(244-246)CAG>CAA p.Q82Q APOL1_uc011amn.1_5'UTR|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Silent_p.Q98Q|APOL1_uc011amo.1_5'UTR|APOL1_uc011amp.1_Silent_p.Q82Q|APOL1_uc011amq.1_Silent_p.Q64Q|APOL1_uc010gwx.2_5'UTR NM_003661 NP_003652 O14791 APOL1_HUMAN apolipoprotein L1 isoform a precursor 82 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|ovary(1) 3 TGAGCACACAGAATCTGCTAC 0.473 NA 18 58 0 0 0 0 NAGA 4668 broad.mit.edu 37 22 42463795 42463795 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:42463795G>C uc003bbx.2 - 4 435 c.298C>G c.(298-300)CAT>GAT p.H100D NAGA_uc003bby.2_Missense_Mutation_p.H100D|NAGA_uc003bbw.3_Missense_Mutation_p.H100D NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 100 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 GGAATGCCATGAGGGAAGCGC 0.607 NA 17 99 0 0 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042418 49042418 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr22:49042418C>T uc003bim.3 + 2 239 c.122C>T c.(121-123)GCC>GTC p.A41V FAM19A5_uc003bio.3_Missense_Mutation_p.A34V NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine 41 extracellular region|integral to membrane large_intestine(1) 1 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GGTCAGCTGGCCGCCGGCACC 0.587 NA 21 47 0 0 0 0 SETD5 55209 broad.mit.edu 37 3 9488977 9488977 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:9488977T>C uc003brt.2 + 14 2203 c.1768T>C c.(1768-1770)TCT>CCT p.S590P SETD5_uc003brs.1_Missense_Mutation_p.S571P|SETD5_uc003bru.2_Missense_Mutation_p.S492P|SETD5_uc003brv.2_Missense_Mutation_p.S479P|SETD5_uc010hck.2_Missense_Mutation_p.S72P|SETD5_uc003brx.2_Missense_Mutation_p.S259P NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 590 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TACCCGGAGGTCTTCCCAAGC 0.423 NA 48 106 0 0 0 0 HACL1 26061 broad.mit.edu 37 3 15642612 15642612 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:15642612C>G uc003caf.2 - 2 331 c.171G>C c.(169-171)ATG>ATC p.M57I HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.M57I|HACL1_uc011avt.1_Missense_Mutation_p.M57I|HACL1_uc003cag.2_5'UTR|HACL1_uc011avu.1_Missense_Mutation_p.M57I|HACL1_uc010hep.2_Missense_Mutation_p.M57I|BTD_uc011avv.1_5'Flank|BTD_uc003cah.2_5'Flank|BTD_uc011avw.1_5'Flank|BTD_uc011avx.1_5'Flank NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 57 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 GCTCATTCCTCATCCCGATGT 0.493 NA 8 24 0 0 0 0 DAG1 1605 broad.mit.edu 37 3 49570156 49570156 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:49570156G>C uc003cxc.3 + 3 2630 c.2212G>C c.(2212-2214)GAC>CAC p.D738H NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 738 Extracellular (Potential). cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AGAAGTGCCTGACAGGGACCC 0.592 NA 6 18 0 0 0 0 FAM116A 201627 broad.mit.edu 37 3 57616485 57616485 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:57616485G>C uc003dja.2 - 17 1545 c.1474C>G c.(1474-1476)CAG>GAG p.Q492E NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 492 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) GAGGTTAGCTGAGGTCCTGTT 0.353 NA 10 25 0 0 0 0 ATP6V1A 523 broad.mit.edu 37 3 113497631 113497631 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:113497631G>A uc003eao.2 + 2 97 c.31G>A c.(31-33)GAT>AAT p.D11N ATP6V1A_uc011bik.1_5'UTR NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 11 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 CAAAATACTCGATGAAGATAA 0.294 NA 5 34 0 0 0 0 FBXO40 51725 broad.mit.edu 37 3 121340738 121340738 + Silent SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:121340738T>C uc003eeg.2 + 3 672 c.462T>C c.(460-462)ACT>ACC p.T154T NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 154 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GAGAGGCTACTGAGGAGGAAC 0.507 NA 24 23 0 0 0 0 MYLK 4638 broad.mit.edu 37 3 123452859 123452859 + Silent SNP C C T rs115018449 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:123452859C>T uc003ego.2 - 10 1266 c.984G>A c.(982-984)TCG>TCA p.S328S MYLK_uc011bjw.1_Silent_p.S328S|MYLK_uc003egp.2_Silent_p.S328S|MYLK_uc003egq.2_Silent_p.S328S|MYLK_uc003egr.2_Silent_p.S328S|MYLK_uc003egs.2_Silent_p.S152S NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 328 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCGTTCTGGGCGAGTCCTTGC 0.647 NA 17 110 0 0 0 0 HPS3 84343 broad.mit.edu 37 3 148880010 148880010 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:148880010G>A uc003ewu.1 + 12 2322 c.2182G>A c.(2182-2184)GAG>AAG p.E728K HPS3_uc011bnq.1_Missense_Mutation_p.E563K|HPS3_uc003ewv.1_RNA NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 728 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGTTCCAACCGAGCTTGCACT 0.428 NA Hermansky-Pudlak_syndrome 15 88 0 0 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198315 170198315 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:170198315C>A uc003fgz.2 - 7 2072 c.1756G>T c.(1756-1758)GGT>TGT p.G586C CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 586 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TAGTCAGAACCAAAGATGATG 0.552 NA 12 56 0.00010058 0.000130304 1 0 CCDC39 339829 broad.mit.edu 37 3 180359892 180359892 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:180359892C>A uc010hxe.2 - 13 1878 c.1763G>T c.(1762-1764)AGA>ATA p.R588I CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 588 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTGCTGTTTTCTTTTTTCTAG 0.358 NA 30 87 9.81e-20 1.37e-19 1 0 ABCC5 10057 broad.mit.edu 37 3 183707056 183707056 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:183707056T>C uc003fmg.2 - 3 410 c.245A>G c.(244-246)CAT>CGT p.H82R ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.H82R|ABCC5_uc003fmh.2_Missense_Mutation_p.H82R|ABCC5_uc010hxm.2_RNA|ABCC5_uc010hxn.2_Missense_Mutation_p.H82R|ABCC5_uc010hxo.2_Missense_Mutation_p.H82R NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 82 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAAGCCATGATGGTACTTTCC 0.502 NA 23 54 0 0 0 0 ATP13A3 79572 broad.mit.edu 37 3 194167697 194167697 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:194167697T>C uc003fty.3 - 13 1858 c.1456A>G c.(1456-1458)ATA>GTA p.I486V ATP13A3_uc003ftz.1_Missense_Mutation_p.I192V NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 486 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CAAATATTTATTCTTTGAGGA 0.383 NA 51 106 0 0 0 0 NIPAL1 152519 broad.mit.edu 37 4 48036925 48036925 + Silent SNP C C T rs138156539 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:48036925C>T uc003gxw.2 + 5 555 c.489C>T c.(487-489)AAC>AAT p.N163N NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 163 Cytoplasmic (Potential). integral to membrane 0 ACTTTTTAAACGAGCACTTGA 0.383 NA 23 26 0 0 0 0 TEC 7006 broad.mit.edu 37 4 48172263 48172263 + Splice_Site SNP A A C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:48172263A>C uc003gxz.2 - 5 545 c.454_splice c.e5+1 p.S152_splice NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 ATGAATACTTACTGCTCTCAA 0.318 NA 16 50 0 0 0 0 PPEF2 5470 broad.mit.edu 37 4 76794404 76794404 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:76794404C>T uc003hix.2 - 12 1739 c.1382G>A c.(1381-1383)CGA>CAA p.R461Q PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.R461Q NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 461 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCCTCCTCCTCGAATAGTGTT 0.458 NA 41 32 0 0 0 0 DMP1 1758 broad.mit.edu 37 4 88583266 88583266 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:88583266C>A uc003hqv.2 + 6 440 c.336C>A c.(334-336)GAC>GAA p.D112E DMP1_uc003hqw.2_Missense_Mutation_p.D96E NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 112 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GTGGAGATGACACCTTTGGTG 0.478 NA 25 20 2.4e-15 3.33e-15 1 0 MTTP 4547 broad.mit.edu 37 4 100534246 100534246 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:100534246C>T uc003hvc.3 + 16 2422 c.2166C>T c.(2164-2166)GGC>GGT p.G722G MTTP_uc011cej.1_Silent_p.G749G NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 722 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAGCATCTGGCGACCCTATCA 0.338 NA 11 60 0 0 0 0 KLHL2 11275 broad.mit.edu 37 4 166231784 166231784 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:166231784C>T uc003irb.2 + 10 1378 c.1119C>T c.(1117-1119)TAC>TAT p.Y373Y KLHL2_uc011cjm.1_Silent_p.Y377Y|KLHL2_uc003irc.2_Silent_p.Y285Y|KLHL2_uc010ira.2_Silent_p.Y26Y NM_007246 NP_009177 O95198 KLHL2_HUMAN kelch-like 2, Mayven isoform 1 373 Kelch 2. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity 0 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TAGATTCCTACGACCCTGTGA 0.478 NA 94 394 0 0 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675844 167675844 + Nonsense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:167675844G>C uc003iri.1 - 9 896 c.755C>G c.(754-756)TCA>TGA p.S252* SPOCK3_uc011cjp.1_Nonsense_Mutation_p.S209*|SPOCK3_uc011cjq.1_Nonsense_Mutation_p.S261*|SPOCK3_uc011cjr.1_Nonsense_Mutation_p.S132*|SPOCK3_uc003irj.1_Nonsense_Mutation_p.S249*|SPOCK3_uc011cjs.1_Nonsense_Mutation_p.S201*|SPOCK3_uc011cjt.1_Nonsense_Mutation_p.S160*|SPOCK3_uc011cju.1_Nonsense_Mutation_p.S145*|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.S154*|SPOCK3_uc003irk.3_Nonsense_Mutation_p.S249* NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 252 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CCAGCCAAGTGAGTCCTTGCA 0.373 NA 16 65 0 0 0 0 HK3 3101 broad.mit.edu 37 5 176308438 176308438 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr5:176308438G>T uc003mfa.2 - 18 2584 c.2492C>A c.(2491-2493)GCT>GAT p.A831D HK3_uc003mez.2_Missense_Mutation_p.A387D NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 831 Catalytic. A -> V (in Ref. 4; AAC50422). glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGACACAGCCTGGCACAC 0.652 NA 3 21 6.4e-05 8.34e-05 1 0 ZNF346 23567 broad.mit.edu 37 5 176477792 176477792 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr5:176477792C>A uc003mfi.2 + 5 601 c.558C>A c.(556-558)TTC>TTA p.F186L ZNF346_uc011dfr.1_Missense_Mutation_p.F154L|ZNF346_uc011dfs.1_Missense_Mutation_p.F88L|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.F211L|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN zinc finger protein 346 186 Matrin-type 3. cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding 0 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGACAAGTTCTGCAGCCTCT 0.478 NA 13 44 1.5e-05 1.98e-05 1 0 TBC1D9B 23061 broad.mit.edu 37 5 179294796 179294796 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr5:179294796C>T uc003mlh.2 - 18 2882 c.2845G>A c.(2845-2847)GAG>AAG p.E949K TBC1D9B_uc003mli.2_Missense_Mutation_p.E949K|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E949K|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E125K|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E125K|TBC1D9B_uc011dgw.1_Missense_Mutation_p.E125K NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 949 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCTGTCCTCTGTGAAATAA 0.632 NA 8 15 0 0 0 0 MEP1A 4224 broad.mit.edu 37 6 46801214 46801214 + Missense_Mutation SNP T T A rs142787710 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:46801214T>A uc010jzh.1 + 11 1590 c.1548T>A c.(1546-1548)GAT>GAA p.D516E MEP1A_uc011dwg.1_Missense_Mutation_p.D238E|MEP1A_uc011dwh.1_Missense_Mutation_p.D544E|MEP1A_uc011dwi.1_Missense_Mutation_p.D416E NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 516 MATH.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) AGGAGCCTGATGTCCGGAACA 0.517 NA 15 141 0 0 0 0 FAM135A 57579 broad.mit.edu 37 6 71232223 71232223 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:71232223G>C uc003pfj.2 + 11 1170 c.1037G>C c.(1036-1038)AGA>ACA p.R346T FAM135A_uc003pfi.2_Missense_Mutation_p.R346T|FAM135A_uc003pfh.2_Missense_Mutation_p.R329T|FAM135A_uc003pfk.2_Missense_Mutation_p.R372T|FAM135A_uc003pfl.2_Missense_Mutation_p.R209T|FAM135A_uc003pfn.2_5'Flank|FAM135A_uc003pfo.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 346 central_nervous_system(1) 1 TAGGTACGCAGATTTTCTGAG 0.353 NA 24 139 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90434920 90434920 + Nonsense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:90434920G>A uc003pnn.1 - 38 5784 c.5668C>T c.(5668-5670)CAG>TAG p.Q1890* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1890 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AATCTTACCTGAGTGAATCTG 0.423 NA 18 68 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100911241 100911241 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:100911241G>A uc003pqj.3 - 1 311 c.104C>T c.(103-105)TCG>TTG p.S35L SIM1_uc010kcu.2_Missense_Mutation_p.S35L NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 35 Helix-loop-helix motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTCCAGCTGCGAGGTGATAGC 0.453 NA 15 58 0 0 0 0 CDK19 23097 broad.mit.edu 37 6 111067348 111067348 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:111067348G>A uc003puh.1 - 2 258 c.185C>T c.(184-186)TCG>TTG p.S62L CDK19_uc003pui.1_Missense_Mutation_p.S2L NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 62 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TCTACAAGCCGACATGGATAT 0.269 NA 9 109 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118887087 118887087 + Missense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:118887087C>G uc003pxz.1 - 3 1213 c.625G>C c.(625-627)GAG>CAG p.E209Q C6orf204_uc003pya.1_Missense_Mutation_p.E212Q|C6orf204_uc003pyb.2_Missense_Mutation_p.E209Q|C6orf204_uc011ebj.1_Missense_Mutation_p.E107Q|C6orf204_uc003pyc.2_Missense_Mutation_p.E212Q|C6orf204_uc011ebl.1_Missense_Mutation_p.E107Q NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 209 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) CTAAGCATCTCCATACTATCA 0.413 NA 4 157 0 0 0 0 RNF146 81847 broad.mit.edu 37 6 127607982 127607982 + Missense_Mutation SNP G G A rs146049752 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:127607982G>A uc003qav.2 + 3 383 c.224G>A c.(223-225)CGA>CAA p.R75Q RNF146_uc003qat.2_Missense_Mutation_p.R74Q|RNF146_uc003qau.2_Missense_Mutation_p.R74Q|RNF146_uc003qaw.2_Missense_Mutation_p.R74Q NM_030963 NP_112225 Q9NTX7 RN146_HUMAN ring finger protein 146 75 RING-type. positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GCTCTTTGTCGACAAGAAATT 0.443 NA 13 60 0 0 0 0 AKAP12 9590 broad.mit.edu 37 6 151671694 151671694 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:151671694C>T uc011eep.1 + 4 2408 c.2168C>T c.(2167-2169)ACG>ATG p.T723M AKAP12_uc003qoe.2_Missense_Mutation_p.T723M|AKAP12_uc003qof.2_Missense_Mutation_p.T625M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T618M NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 723 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GACAAAGAGACGGGGACAGAC 0.567 NA 12 133 0 0 0 0 AKAP12 9590 broad.mit.edu 37 6 151672232 151672232 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr6:151672232A>G uc011eep.1 + 4 2946 c.2706A>G c.(2704-2706)GCA>GCG p.A902A AKAP12_uc003qoe.2_Silent_p.A902A|AKAP12_uc003qof.2_Silent_p.A804A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.A797A NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 902 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGACGAGGGCAGCTACCATTA 0.532 NA 19 52 0 0 0 0 STK31 56164 broad.mit.edu 37 7 23830531 23830531 + Nonsense_Mutation SNP C C G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:23830531C>G uc003sws.3 + 22 2793 c.2726C>G c.(2725-2727)TCA>TGA p.S909* STK31_uc003swt.3_Nonsense_Mutation_p.S886*|STK31_uc011jze.1_Nonsense_Mutation_p.S909*|STK31_uc010kuq.2_Nonsense_Mutation_p.S886*|STK31_uc003swv.1_Nonsense_Mutation_p.S75* NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 909 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TCTCCAGGTTCAGACTTATAT 0.353 NA 10 31 0 0 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225363 26225363 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:26225363C>T uc003sxq.2 + 4 2317 c.2045C>T c.(2044-2046)TCA>TTA p.S682L NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 682 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 CTGGTGGCCTCAGGCCACAAA 0.418 NA 13 41 0 0 0 0 HIP1 3092 broad.mit.edu 37 7 75172195 75172195 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:75172195G>A uc003uds.1 - 28 2906 c.2865C>T c.(2863-2865)TCC>TCT p.S955S HIP1_uc011kfz.1_Silent_p.S781S NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 955 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GTGATTTGCCGGAAATGGTTG 0.562 NA T PDGFRB CMML 4 98 0 0 0 0 CALCR 799 broad.mit.edu 37 7 93055850 93055850 + Nonsense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:93055850G>A uc003umv.1 - 15 1606 c.1345C>T c.(1345-1347)CAG>TAG p.Q449* CALCR_uc011kia.1_Nonsense_Mutation_p.Q229*|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.Q415*|CALCR_uc003umw.2_Nonsense_Mutation_p.Q415* NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 431 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CCCCAACGCTGGTTCCACTGA 0.547 NA 45 71 0 0 0 0 GPC2 221914 broad.mit.edu 37 7 99773453 99773453 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:99773453G>A uc003utv.2 - 3 558 c.390C>T c.(388-390)TAC>TAT p.Y130Y GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Silent_p.Y130Y|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank NM_152742 NP_689955 Q8N158 GPC2_HUMAN glypican 2 precursor 130 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|pancreas(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAGGCGGCCGTAGGAGTGGG 0.567 NA 41 50 0 0 0 0 DOCK4 9732 broad.mit.edu 37 7 111517169 111517169 + Missense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:111517169C>T uc003vfx.2 - 17 1930 c.1661G>A c.(1660-1662)GGG>GAG p.G554E DOCK4_uc003vfw.2_5'UTR|DOCK4_uc003vfy.2_Missense_Mutation_p.G554E|DOCK4_uc003vga.1_Missense_Mutation_p.G159E NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 554 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) ATTATTATTCCCAAGGAAAAT 0.338 NA 13 9 0 0 0 0 JHDM1D 80853 broad.mit.edu 37 7 139829433 139829433 + Missense_Mutation SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:139829433T>C uc003vvm.2 - 4 423 c.419A>G c.(418-420)AAG>AGG p.K140R NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 140 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GCCATGCATCTTTATAATTAT 0.353 NA 24 47 0 0 0 0 OR9A4 130075 broad.mit.edu 37 7 141619410 141619410 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:141619410C>T uc003vwu.1 + 1 735 c.735C>T c.(733-735)TTC>TTT p.F245F NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) CCTCCCACTTCACCTGTGTTG 0.502 NA 7 107 0 0 0 0 ABCB8 11194 broad.mit.edu 37 7 150741174 150741174 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr7:150741174G>A uc003wil.3 + 16 2026 c.1933G>A c.(1933-1935)GAG>AAG p.E645K ABCB8_uc010lpx.2_Missense_Mutation_p.E628K|ABCB8_uc011kvd.1_Missense_Mutation_p.E540K|ABCB8_uc003wim.3_Missense_Mutation_p.E423K|ABCB8_uc003wik.3_Missense_Mutation_p.E628K NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 645 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGGATGCAGAGTCCGAGCG 0.667 NA 6 22 0 0 0 0 MTUS1 57509 broad.mit.edu 37 8 17611659 17611659 + Missense_Mutation SNP A A C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:17611659A>C uc003wxv.2 - 2 2132 c.1658T>G c.(1657-1659)TTG>TGG p.L553W MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L553W|MTUS1_uc010lsz.2_Missense_Mutation_p.L553W NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 553 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) TGTTCTGCTCAAGACTGTTTG 0.428 NA 39 148 0 0 0 0 CDCA2 157313 broad.mit.edu 37 8 25346199 25346199 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:25346199G>A uc003xep.1 + 13 2144 c.1665G>A c.(1663-1665)AAG>AAA p.K555K PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.K555K|CDCA2_uc003xeq.1_Silent_p.K540K|CDCA2_uc003xer.1_Silent_p.K218K NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 555 Lys-rich. cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TTCCTAAGAAGAGTCAGGTAA 0.313 NA 8 29 0 0 0 0 BAG4 9530 broad.mit.edu 37 8 38034583 38034583 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:38034583G>A uc003xky.1 + 1 478 c.196G>A c.(196-198)GGC>AGC p.G66S LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Missense_Mutation_p.G66S NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 66 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GCTGGGAGAAGGCGGAGGAGG 0.672 NA 8 16 0 0 0 0 WWP1 11059 broad.mit.edu 37 8 87423945 87423945 + Silent SNP A A G TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:87423945A>G uc003ydt.2 + 9 1183 c.903A>G c.(901-903)GCA>GCG p.A301A WWP1_uc010mai.2_Silent_p.A77A NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 301 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 CTACCAGTGCAGAATTGGAAT 0.403 NA 22 57 0 0 0 0 GRHL2 79977 broad.mit.edu 37 8 102585906 102585906 + Nonsense_Mutation SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:102585906C>T uc010mbu.2 + 6 1075 c.745C>T c.(745-747)CAG>TAG p.Q249* GRHL2_uc011lhi.1_Nonsense_Mutation_p.Q249* NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 249 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGGCACATTTCAGTACACCCT 0.473 NA 44 62 0 0 0 0 ABRA 137735 broad.mit.edu 37 8 107773700 107773700 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr8:107773700C>T uc003ymm.3 - 2 765 c.711G>A c.(709-711)CAG>CAA p.Q237Q NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 237 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GGCTATATTTCTGTTGGGCTT 0.423 NA 19 137 0 0 0 0 FOXD4 2298 broad.mit.edu 37 9 117484 117484 + Silent SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:117484G>T uc003zfz.2 - 1 934 c.636C>A c.(634-636)CCC>CCA p.P212P NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 212 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGAAGGGGTGGGGCAGGTGGG 0.716 NA 13 747 9.17e-09 1.24e-08 1 0 SMARCA2 6595 broad.mit.edu 37 9 2182188 2182188 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:2182188G>C uc003zhc.2 + 31 4506 c.4407G>C c.(4405-4407)AAG>AAC p.K1469N SMARCA2_uc003zhd.2_Missense_Mutation_p.K1451N|SMARCA2_uc010mha.2_Missense_Mutation_p.K1384N|SMARCA2_uc011llw.1_Missense_Mutation_p.K155N|SMARCA2_uc003zhf.2_Missense_Mutation_p.K133N|SMARCA2_uc011llx.1_Missense_Mutation_p.K115N|SMARCA2_uc003zhe.2_Missense_Mutation_p.K157N|SMARCA2_uc003zhg.2_Missense_Mutation_p.K115N|SMARCA2_uc010mhb.2_Missense_Mutation_p.K139N NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1469 Bromo. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACCTGGAGAAGGATGTCATGC 0.438 NA 39 508 0 0 0 0 SIT1 27240 broad.mit.edu 37 9 35650526 35650526 + Missense_Mutation SNP C C A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:35650526C>A uc003zxe.1 - 2 306 c.209G>T c.(208-210)CGG>CTG p.R70L SIT1_uc003zxf.1_Intron NM_014450 NP_055265 Q9Y3P8 SIT1_HUMAN SHP2-interacting transmembrane adaptor protein 70 Cytoplasmic (Potential). regulation of T cell activation|signal transduction integral to plasma membrane kinase binding|SH2 domain binding 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTCCTGCTCCGGCCCCTGGT 0.597 NA 16 319 2e-07 2.68e-07 1 0 FRMPD1 22844 broad.mit.edu 37 9 37731065 37731065 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:37731065G>A uc004aag.1 + 9 867 c.823G>A c.(823-825)GAA>AAA p.E275K FRMPD1_uc004aah.1_Missense_Mutation_p.E275K|FRMPD1_uc011lqm.1_Missense_Mutation_p.E97K|FRMPD1_uc011lqn.1_Missense_Mutation_p.E144K NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 275 FERM. cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CCTCCTGAAAGAAGACCCCGT 0.517 NA 35 244 0 0 0 0 VPS13A 23230 broad.mit.edu 37 9 79824394 79824394 + Silent SNP C C T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:79824394C>T uc004akr.2 + 6 701 c.441C>T c.(439-441)ATC>ATT p.I147I VPS13A_uc004akp.3_Silent_p.I147I|VPS13A_uc004akq.3_Silent_p.I147I|VPS13A_uc004aks.2_Silent_p.I147I NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 147 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TTACACAGATCATAAAAAATC 0.254 NA 7 19 0 0 0 0 TLE4 7091 broad.mit.edu 37 9 82187743 82187743 + Missense_Mutation SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:82187743G>A uc004ald.2 + 1 866 c.17G>A c.(16-18)AGA>AAA p.R6K TLE4_uc004alc.2_Missense_Mutation_p.R13K|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.R6K|TLE4_uc010mps.2_Missense_Mutation_p.R6K|TLE4_uc004alf.2_5'Flank NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CCGCAGACCAGACACCCAGTG 0.537 NA 8 41 0 0 0 0 PTCH1 5727 broad.mit.edu 37 9 98218642 98218642 + Silent SNP G G A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:98218642G>A uc004avk.3 - 19 3410 c.3222C>T c.(3220-3222)ATC>ATT p.I1074I PTCH1_uc010mro.2_Silent_p.I923I|PTCH1_uc010mrp.2_Silent_p.I923I|PTCH1_uc010mrq.2_Silent_p.I923I|PTCH1_uc004avl.3_Silent_p.I923I|PTCH1_uc010mrr.2_Silent_p.I1008I|PTCH1_uc004avm.3_Silent_p.I1073I NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1074 Helical; (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.V1057_L1102del(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCTTGATTCCGATGAGGCCCA 0.587 NA Basal_Cell_Nevus_syndrome 29 36 0 0 0 0 TBC1D13 54662 broad.mit.edu 37 9 131566365 131566365 + Missense_Mutation SNP G G C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:131566365G>C uc010myj.2 + 9 1008 c.885G>C c.(883-885)TTG>TTC p.L295F TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Missense_Mutation_p.L114F NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 295 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 ACTCCACCTTGAAAGATAAGG 0.537 NA 15 60 0 0 0 0 GTF3C4 9329 broad.mit.edu 37 9 135554462 135554462 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr9:135554462G>T uc010mzv.2 + 2 1714 c.1456G>T c.(1456-1458)GGT>TGT p.G486C GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 486 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GAGCCCCTGCGGTGCATACCT 0.468 NA 15 76 7.93e-07 1.06e-06 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011444 105011444 + Silent SNP T T C TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chrX:105011444T>C uc004elz.1 + 11 2607 c.1851T>C c.(1849-1851)TGT>TGC p.C617C NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 617 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TCAGGCACTGTTGCAGAGGTT 0.483 NA 14 121 0 0 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694349 153694349 + Missense_Mutation SNP G G T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chrX:153694349G>T uc004flm.2 + 14 2777 c.2604G>T c.(2602-2604)TTG>TTT p.L868F NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 868 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGCCTCTTGTCCCGAGAGG 0.652 NA 39 15 2.25e-16 3.14e-16 1 0 ODF2L 57489 broad.mit.edu 37 1 86838147 86838148 + Frame_Shift_Ins INS - - T TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr1:86838147_86838148insT uc001dll.1 - 9 1226_1227 c.886_887insA c.(886-888)ACCfs p.T296fs ODF2L_uc001dlm.1_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.T165fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.T296fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.T296fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.T126fs|ODF2L_uc009wcr.1_Frame_Shift_Ins_p.T165fs NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 296 Potential. centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) TTCCAATTCGGTTTTTTCTATC 0.257 NA 2 4 --- --- --- --- NA NA NA NA MAPK8 5599 broad.mit.edu 37 10 49634078 49634079 + Frame_Shift_Del DEL TT TT - TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr10:49634078_49634079delTT uc009xnz.2 + 8 1060_1061 c.836_837delTT c.(835-837)CTTfs p.L279fs MAPK8_uc001jgl.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgm.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgo.2_Frame_Shift_Del_p.L279fs|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Frame_Shift_Del_p.L279fs|MAPK8_uc010qgk.1_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgp.2_Frame_Shift_Del_p.L279fs|MAPK8_uc001jgq.2_Frame_Shift_Del_p.L279fs NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 279 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCTGATGTCCTTTTCCCAGCTG 0.386 NA 24 70 --- --- --- --- NA NA NA NA NUDT7 283927 broad.mit.edu 37 16 77775743 77775744 + Frame_Shift_Ins INS - - A TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr16:77775743_77775744insA uc010chd.2 + 4 682_683 c.613_614insA c.(613-615)GAAfs p.E205fs NUDT7_uc010vnj.1_Frame_Shift_Ins_p.E152fs NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN nudix motif 7 205 nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding ovary(1)|kidney(1) 2 TATCATTTTGGAAAAAAAACCC 0.381 NA 11 33 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7577102 7577119 + In_Frame_Del DEL CCAGGACAGGCACAAACA CCAGGACAGGCACAAACA - rs17849781 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr17:7577102_7577119delCCAGGACAGGCACAAACA uc002gim.2 - 8 1013_1030 c.819_836delTGTTTGTGCCTGTCCTGG c.(817-837)CGTGTTTGTGCCTGTCCTGGG>CGG p.VCACPG274del TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.VCACPG274del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.VCACPG142del|TP53_uc010cng.1_In_Frame_Del_p.VCACPG142del|TP53_uc002gii.1_In_Frame_Del_p.VCACPG142del|TP53_uc010cnh.1_In_Frame_Del_p.VCACPG274del|TP53_uc010cni.1_In_Frame_Del_p.VCACPG274del|TP53_uc002gij.2_In_Frame_Del_p.VCACPG274del NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 274_279 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|G -> V (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.P278L(52)|p.P278S(48)|p.C275Y(44)|p.C275F(34)|p.G279E(32)|p.P278R(26)|p.P278T(21)|p.C277F(20)|p.P278A(18)|p.V274F(17)|p.C277Y(15)|p.V274A(13)|p.A276P(13)|p.P278H(11)|p.A276S(9)|p.V274L(9)|p.R280fs*65(7)|p.V274D(7)|p.A276V(7)|p.G279R(7)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.A276T(7)|p.C277*(6)|p.V274G(6)|p.A276D(6)|p.C275R(6)|p.P278fs*67(5)|p.G279V(4)|p.C277G(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.C275fs*70(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(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) CCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAA 0.541 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 20 --- --- --- --- NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NA 8 189 --- --- --- --- NA NA NA NA PHOX2B 8929 broad.mit.edu 37 4 41747993 41748013 + In_Frame_Del DEL GCCGCCGCTGCCGCTGCCGCC GCCGCCGCTGCCGCTGCCGCC - rs17879189 TCGA-CV-6940-01A-11D-1912-08 TCGA-CV-6940-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 39f2e005-79f9-4c63-a6d6-0b378481a3ba f92c1496-9e4b-4bc6-97df-635b907b5029 g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC uc003gwf.3 - 3 1116_1136 c.756_776delGGCGGCAGCGGCAGCGGCGGC c.(754-777)GCGGCGGCAGCGGCAGCGGCGGCA>GCA p.252_259AAAAAAAA>A NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 252_259 Poly-Ala. Missing. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg 0.376 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 3 5 --- --- --- --- NA NA NA NA