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 ARID1A 8289 broad.mit.edu 37 1 27099013 27099013 + Silent SNP G G C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr1:27099013G>C uc001bmv.1 + 13 3802 c.3429G>C c.(3427-3429)GGG>GGC p.G1143G ARID1A_uc001bmt.1_Silent_p.G1143G|ARID1A_uc001bmu.1_Silent_p.G1143G|ARID1A_uc001bmw.1_Silent_p.G760G|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1143 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTATGCAGGGGCCCCAGACTC 0.527 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 12 48 0 0 0 0 CYP2J2 1573 broad.mit.edu 37 1 60381634 60381634 + Nonsense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr1:60381634G>A uc001czq.2 - 2 354 c.349C>T c.(349-351)CGA>TGA p.R117* NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 117 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) ATATGTTCTCGCATAGGGGTC 0.428 NA 15 98 0 0 0 0 INADL 10207 broad.mit.edu 37 1 62593753 62593753 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr1:62593753C>T uc001dab.2 + 40 5267 c.5153C>T c.(5152-5154)ACA>ATA p.T1718I INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T502I NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1718 PDZ 10. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GCCGCACGGACACAGAAGCTT 0.488 NA 5 37 0 0 0 0 C1orf103 55791 broad.mit.edu 37 1 111495258 111495258 + Missense_Mutation SNP T T G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr1:111495258T>G uc001eaa.2 - 2 504 c.248A>C c.(247-249)CAG>CCG p.Q83P C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) GCTGGAAATCTGAGTCTGAAA 0.378 NA 11 35 0 0 0 0 C1orf129 80133 broad.mit.edu 37 1 170961470 170961470 + Silent SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr1:170961470G>A uc001ghg.2 + 12 1324 c.1194G>A c.(1192-1194)GCG>GCA p.A398A C1orf129_uc009wvy.2_Silent_p.A205A|C1orf129_uc010plz.1_Silent_p.A398A NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 398 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGCCTTTGGCGGTAAATAACA 0.413 NA 6 77 0 0 0 0 DUSP5 1847 broad.mit.edu 37 10 112257918 112257918 + Missense_Mutation SNP G G C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr10:112257918G>C uc001kzd.2 + 1 294 c.39G>C c.(37-39)AAG>AAC p.K13N NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 13 endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) AGCTGCGCAAGATGCTCCGCA 0.537 NA 8 24 0 0 0 0 METT5D1 196074 broad.mit.edu 37 11 28318421 28318421 + Nonsense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr11:28318421C>T uc001msh.2 + 6 1176 c.721C>T c.(721-723)CAG>TAG p.Q241* METT5D1_uc001msg.2_Nonsense_Mutation_p.Q241*|METT5D1_uc001mse.2_Missense_Mutation_p.S226L|METT5D1_uc001msi.2_Nonsense_Mutation_p.Q38* NM_001113528 NP_001107000 A6NJ78 MET15_HUMAN methyltransferase 5 domain containing 1 isoform 241 methyltransferase activity 0 AGCAATTGTTCAGGCACGCAG 0.453 NA 11 68 0 0 0 0 MADD 8567 broad.mit.edu 37 11 47305994 47305994 + Missense_Mutation SNP C C A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr11:47305994C>A uc001ner.1 + 12 2226 c.2035C>A c.(2035-2037)CAG>AAG p.Q679K MADD_uc001neq.2_Missense_Mutation_p.Q679K|MADD_uc001nev.1_Missense_Mutation_p.Q679K|MADD_uc001nes.1_Missense_Mutation_p.Q679K|MADD_uc001net.1_Missense_Mutation_p.Q679K|MADD_uc009yln.1_Missense_Mutation_p.Q679K|MADD_uc001neu.1_Missense_Mutation_p.Q679K|MADD_uc001nex.2_Missense_Mutation_p.Q679K|MADD_uc001nez.2_Missense_Mutation_p.Q679K|MADD_uc001new.2_Missense_Mutation_p.Q679K NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 679 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GCTGCAGAATCAGAAGGAAGC 0.592 NA 28 40 8.58e-18 4.31e-17 1 0 NUMA1 4926 broad.mit.edu 37 11 71715073 71715073 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr11:71715073G>A uc001orl.1 - 26 6368 c.6196C>T c.(6196-6198)CGG>TGG p.R2066W IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R248W|NUMA1_uc009ysw.1_Missense_Mutation_p.R1633W|NUMA1_uc001ork.1_Missense_Mutation_p.R930W|NUMA1_uc001orm.1_Missense_Mutation_p.R2052W NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 2066 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GAGGCTCCCCGCCGCAGAAGG 0.647 NA T RARA APL 24 136 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92088363 92088363 + Missense_Mutation SNP G G T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr11:92088363G>T uc001pdj.3 + 1 3102 c.3085G>T c.(3085-3087)GTG>TTG p.V1029L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1029 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTTGTTGAGGTGGAAGTGGT 0.458 NA TCGA Ovarian(4;0.039) 7 38 8.13e-05 0.000379993 1 0 PTPRB 5787 broad.mit.edu 37 12 70974931 70974931 + Silent SNP A A G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr12:70974931A>G uc001swb.3 - 8 1839 c.1809T>C c.(1807-1809)AGT>AGC p.S603S PTPRB_uc010sto.1_Silent_p.S603S|PTPRB_uc010stp.1_Silent_p.S513S|PTPRB_uc001swc.3_Silent_p.S821S|PTPRB_uc001swa.3_Silent_p.S821S|PTPRB_uc001swd.3_Silent_p.S820S|PTPRB_uc009zrr.1_Silent_p.S700S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 603 Fibronectin type-III 7.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCTGGTCTCACTGGAGATGC 0.473 NA 16 78 0 0 0 0 DIAPH3 81624 broad.mit.edu 37 13 60584694 60584694 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr13:60584694G>A uc001vht.2 - 8 1100 c.881C>T c.(880-882)GCG>GTG p.A294V DIAPH3_uc001vhu.2_Missense_Mutation_p.A31V|DIAPH3_uc001vhw.1_Missense_Mutation_p.A283V|DIAPH3_uc010aed.1_Missense_Mutation_p.A248V|DIAPH3_uc010aee.1_Missense_Mutation_p.A224V|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 294 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AATGCATACCGCAGAGAGAAG 0.368 NA 7 23 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71444780 71444780 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr14:71444780C>T uc001xmo.2 + 6 2172 c.1726C>T c.(1726-1728)CGG>TGG p.R576W PCNX_uc001xmn.3_Missense_Mutation_p.R576W|PCNX_uc010are.1_Missense_Mutation_p.R576W NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 576 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGATTCAAGCCGGCATAGGGA 0.473 NA 5 135 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94069729 94069729 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr14:94069729C>T uc001ybv.1 + 23 3271 c.3188C>T c.(3187-3189)GCG>GTG p.A1063V KIAA1409_uc001ybs.1_Missense_Mutation_p.A1063V NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1240 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TCCAAGAGGGCGCTCTCCCTC 0.493 NA 13 77 0 0 0 0 GABRB3 2562 broad.mit.edu 37 15 26812809 26812809 + Missense_Mutation SNP T T C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr15:26812809T>C uc001zaz.2 - 7 896 c.754A>G c.(754-756)ATG>GTG p.M252V GABRB3_uc010uae.1_Missense_Mutation_p.M167V|GABRB3_uc001zba.2_Missense_Mutation_p.M252V|GABRB3_uc001zbb.2_Missense_Mutation_p.M308V NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 252 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATAGAGGGCATATAAGTCTGA 0.428 NA 9 30 0 0 0 0 TUBB3 10381 broad.mit.edu 37 16 90001360 90001360 + Silent SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr16:90001360C>T uc002fph.1 + 4 566 c.501C>T c.(499-501)TTC>TTT p.F167F TUBB3_uc002fpf.2_Silent_p.F514F|TUBB3_uc010ciz.1_Silent_p.F95F|TUBB3_uc002fpg.1_Silent_p.F21F|TUBB3_uc002fpi.1_Silent_p.F95F|TUBB3_uc002fpj.1_Silent_p.F95F|TUBB3_uc010cjb.1_Silent_p.F21F|TUBB3_uc002fpk.1_Silent_p.F21F NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 167 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) TGAACACCTTCAGCGTCGTGC 0.627 NA 19 123 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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) 15 17 0 0 0 0 ADAP2 55803 broad.mit.edu 37 17 29261281 29261281 + Missense_Mutation SNP G G C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr17:29261281G>C uc002hfx.2 + 5 755 c.476G>C c.(475-477)AGA>ACA p.R159T ADAP2_uc010csk.2_Missense_Mutation_p.R165T|ADAP2_uc002hfy.2_Missense_Mutation_p.R159T|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 159 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 CTTCTGGCAAGAGAAGGCCTC 0.483 NA 13 11 0 0 0 0 ABCC3 8714 broad.mit.edu 37 17 48745371 48745371 + Splice_Site SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr17:48745371G>A uc002isl.2 + 13 1862 c.1782_splice c.e13+1 p.Q594_splice NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTGACTCAGGTAACCCTGGG 0.527 NA 16 34 0 0 0 0 TUBD1 51174 broad.mit.edu 37 17 57968230 57968230 + Missense_Mutation SNP G G C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr17:57968230G>C uc002ixw.1 - 2 412 c.134C>G c.(133-135)TCT>TGT p.S45C TUBD1_uc010ddf.1_Missense_Mutation_p.S45C|TUBD1_uc010ddg.1_Missense_Mutation_p.S10C|TUBD1_uc010ddh.1_Translation_Start_Site|TUBD1_uc010wok.1_Missense_Mutation_p.S45C|TUBD1_uc002ixx.1_Missense_Mutation_p.S45C|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.S45C|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 45 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TTCTTTGCAAGATGCTTGATA 0.353 NA 36 76 0 0 0 0 ACE 1636 broad.mit.edu 37 17 61570945 61570945 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr17:61570945G>A uc002jau.1 + 20 3083 c.3061G>A c.(3061-3063)GTG>ATG p.V1021M ACE_uc002jav.1_Missense_Mutation_p.V447M|ACE_uc010ddv.1_Missense_Mutation_p.V248M|ACE_uc010wpj.1_Missense_Mutation_p.V447M|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V267M NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 1021 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) CATTGGGGACGTGCTAGCCCT 0.597 NA 6 40 0 0 0 0 CABLES1 91768 broad.mit.edu 37 18 20833870 20833870 + Silent SNP C C G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr18:20833870C>G uc002kuc.2 + 9 1731 c.1731C>G c.(1729-1731)CTC>CTG p.L577L C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Silent_p.L80L|CABLES1_uc002kud.2_Silent_p.L312L NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 577 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAAGTGACCTCAAAAAACACG 0.493 NA 5 37 0 0 0 0 LONP1 9361 broad.mit.edu 37 19 5705940 5705940 + Missense_Mutation SNP T T C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:5705940T>C uc002mcx.2 - 8 1243 c.1210A>G c.(1210-1212)AAG>GAG p.K404E LONP1_uc002mcy.2_Missense_Mutation_p.K340E|LONP1_uc010duh.2_Missense_Mutation_p.K145E|LONP1_uc010dui.2_Missense_Mutation_p.K388E|LONP1_uc002mcz.2_Missense_Mutation_p.K208E NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 404 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 AGCTCCTTCTTGATGATCTTT 0.592 NA 3 103 0 0 0 0 TYK2 7297 broad.mit.edu 37 19 10476499 10476499 + Silent SNP C C G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:10476499C>G uc002moc.3 - 7 1083 c.705G>C c.(703-705)CGG>CGC p.R235R TYK2_uc010dxe.2_Silent_p.R50R|TYK2_uc002mod.2_Silent_p.R235R NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 235 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GGAAGACGTTCCGAAGGCGCA 0.612 NA 4 22 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22364284 22364284 + Missense_Mutation SNP A A T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:22364284A>T uc002nqs.1 - 3 553 c.235T>A c.(235-237)TTA>ATA p.L79I NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTTAAGTGTAAATTCTCATGT 0.338 NA 5 54 0 0 0 0 CHST8 64377 broad.mit.edu 37 19 34263279 34263279 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:34263279G>A uc002nus.3 + 5 1091 c.586G>A c.(586-588)GAG>AAG p.E196K CHST8_uc002nut.3_Missense_Mutation_p.E196K|CHST8_uc002nuu.2_Missense_Mutation_p.E196K NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 196 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) GCTCTACTGCGAGGTGCCCAA 0.692 NA 18 46 0 0 0 0 ZNF146 7705 broad.mit.edu 37 19 36727775 36727775 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:36727775G>A uc002odq.3 + 4 1956 c.433G>A c.(433-435)GAG>AAG p.E145K ZNF146_uc010eet.2_Missense_Mutation_p.E145K|ZNF146_uc010eeu.2_Missense_Mutation_p.E145K NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 145 C2H2-type 5. regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) CAACCTTACTGAGCATGAGAA 0.418 NA 8 84 0 0 0 0 ZFP112 7771 broad.mit.edu 37 19 44833908 44833908 + Silent SNP G G A rs147887844 TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:44833908G>A uc010ejj.2 - 5 533 c.420C>T c.(418-420)CTC>CTT p.L140L ZFP112_uc002ozc.3_Silent_p.L134L|ZFP112_uc010xwy.1_Silent_p.L157L|ZFP112_uc010xwz.1_Silent_p.L139L NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 AAACCTGGCCGAGGGAATTAC 0.403 NA 9 46 0 0 0 0 BCAM 4059 broad.mit.edu 37 19 45317520 45317520 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:45317520C>T uc002ozu.2 + 7 940 c.896C>T c.(895-897)CCG>CTG p.P299L BCAM_uc002ozt.1_Missense_Mutation_p.P299L NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 299 Extracellular (Potential).|Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AGCCCCAGCCCGGAGTATACG 0.657 NA 20 72 0 0 0 0 ZNF480 147657 broad.mit.edu 37 19 52825750 52825750 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr19:52825750G>A uc010ydl.1 + 5 1317 c.1247G>A c.(1246-1248)CGA>CAA p.R416Q ZNF480_uc002pyv.2_Missense_Mutation_p.R339Q|ZNF480_uc010ydm.1_Missense_Mutation_p.R373Q|ZNF480_uc010epn.2_Missense_Mutation_p.R247Q|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 416 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) AATCTTGCACGACATCGAAGA 0.368 NA 12 87 0 0 0 0 PAK7 57144 broad.mit.edu 37 20 9546621 9546621 + Silent SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr20:9546621G>A uc002wnl.2 - 6 1946 c.1401C>T c.(1399-1401)ACC>ACT p.T467T PAK7_uc002wnk.2_Silent_p.T467T|PAK7_uc002wnj.2_Silent_p.T467T|PAK7_uc010gby.1_Silent_p.T467T NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 467 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) TGTGTTTCTCGGTGGCGATGC 0.522 NA 22 144 0 0 0 0 ADRBK2 157 broad.mit.edu 37 22 26083560 26083560 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr22:26083560C>T uc003abx.3 + 11 1030 c.883C>T c.(883-885)CGG>TGG p.R295W ADRBK2_uc010gux.2_Missense_Mutation_p.R295W|ADRBK2_uc003abw.2_Missense_Mutation_p.R182W|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 295 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) GAAGGAGATGCGGTTTTATGC 0.418 NA 8 52 0 0 0 0 PLCD1 5333 broad.mit.edu 37 3 38058058 38058058 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr3:38058058C>T uc003chn.2 - 3 476 c.352G>A c.(352-354)GCC>ACC p.A118T PLCD1_uc003chm.2_Missense_Mutation_p.A139T NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 118 PH. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CAGTGCTGGGCATCAGCTGGC 0.587 NA 6 22 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 86028420 86028420 + Silent SNP C C A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr3:86028420C>A uc003dqj.2 + 8 1676 c.1050C>A c.(1048-1050)ACC>ACA p.T350T CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Silent_p.T352T NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 350 Thr-rich.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CTGCAACAACCAGCAGCATCA 0.433 NA 24 163 2.42e-17 1.2e-16 1 0 NR1I2 8856 broad.mit.edu 37 3 119531666 119531666 + Missense_Mutation SNP A A G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr3:119531666A>G uc003edj.2 + 5 2492 c.653A>G c.(652-654)GAG>GGG p.E218G NR1I2_uc003edi.2_Missense_Mutation_p.E181G|NR1I2_uc003edk.2_Missense_Mutation_p.E257G|NR1I2_uc003edl.2_Missense_Mutation_p.E106G NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 218 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) CTGCGGGGGGAGGATGGCAGT 0.582 NA 5 69 0 0 0 0 IFT80 57560 broad.mit.edu 37 3 160025459 160025459 + Silent SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr3:160025459G>A uc011boy.1 - 10 1501 c.1068C>T c.(1066-1068)TAC>TAT p.Y356Y IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.Y219Y|IFT80_uc003fdd.1_Silent_p.Y39Y|IFT80_uc003fde.1_Silent_p.Y219Y NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 356 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACGAGAACACGTAACATTGAA 0.368 NA 8 34 0 0 0 0 ZNF141 7700 broad.mit.edu 37 4 367159 367159 + Silent SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr4:367159C>T uc003gaa.2 + 5 1111 c.933C>T c.(931-933)TAC>TAT p.Y311Y ZNF141_uc003gab.2_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 311 C2H2-type 6. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 AGAAACCCTACAAATGTGAAG 0.393 NA 35 62 0 0 0 0 AFAP1 60312 broad.mit.edu 37 4 7857195 7857195 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr4:7857195G>A uc003gkg.1 - 4 605 c.332C>T c.(331-333)TCA>TTA p.S111L AFAP1_uc011bwk.1_Missense_Mutation_p.S111L NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 111 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 CCACTCACTTGATGTGATGTA 0.562 NA 13 45 0 0 0 0 FGB 2244 broad.mit.edu 37 4 155489613 155489613 + Nonsense_Mutation SNP A A T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr4:155489613A>T uc003ioa.3 + 5 838 c.799A>T c.(799-801)AGA>TGA p.R267* FGB_uc003iob.3_Nonsense_Mutation_p.R264*|FGB_uc010ipv.2_Nonsense_Mutation_p.R205*|FGB_uc010ipw.2_Nonsense_Mutation_p.R264*|FGB_uc003ioc.3_Nonsense_Mutation_p.R48* NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 267 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CAAACCGTATAGAGTATACTG 0.373 NA 6 80 0 0 0 0 AGXT2 64902 broad.mit.edu 37 5 35014142 35014142 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr5:35014142G>A uc003jjf.2 - 10 1125 c.1046C>T c.(1045-1047)GCT>GTT p.A349V AGXT2_uc003jje.1_Missense_Mutation_p.A2V|AGXT2_uc011com.1_Intron NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 349 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) AATCCCTTTAGCCATGGTGAC 0.527 NA 48 63 0 0 0 0 CATSPER3 347732 broad.mit.edu 37 5 134303694 134303694 + Missense_Mutation SNP C C T rs140980095 byFrequency TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr5:134303694C>T uc003lag.2 + 1 81 c.13C>T c.(13-15)CGT>TGT p.R5C PCBD2_uc011cxw.1_3'UTR NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 5 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCTCAACACCGTCACCAGCG 0.388 NA 3 27 0 0 0 0 EYA4 2070 broad.mit.edu 37 6 133783832 133783832 + Silent SNP C C A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr6:133783832C>A uc003qec.3 + 9 1112 c.654C>A c.(652-654)GGC>GGA p.G218G EYA4_uc011ecq.1_Silent_p.G164G|EYA4_uc011ecr.1_Silent_p.G164G|EYA4_uc003qed.3_Silent_p.G218G|EYA4_uc003qee.3_Silent_p.G195G|EYA4_uc011ecs.1_Silent_p.G218G|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 218 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TACAGAGTGGCTGCCTCAGTT 0.473 NA 9 44 7.48e-07 3.59e-06 1 0 ABCB5 340273 broad.mit.edu 37 7 20725391 20725391 + Silent SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr7:20725391C>T uc003suw.3 + 7 1153 c.607C>T c.(607-609)CTG>TTG p.L203L ABCB5_uc010kuh.2_Silent_p.L648L NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 203 Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CTCACTTCCTCTGCACTCTGT 0.398 NA 6 24 0 0 0 0 NT5C3 51251 broad.mit.edu 37 7 33057128 33057128 + Missense_Mutation SNP C C G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr7:33057128C>G uc003tdk.2 - 7 708 c.631G>C c.(631-633)GAG>CAG p.E211Q AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E172Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E172Q NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 211 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) ATAACTTCCTCTAGTACATCG 0.378 NA 9 60 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33390925 33390925 + Silent SNP C C G TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr7:33390925C>G uc003tdn.1 + 14 2040 c.1527C>G c.(1525-1527)TCC>TCG p.S509S BBS9_uc003tdo.1_Intron|BBS9_uc003tdp.1_Silent_p.S509S|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.S33S|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.S387S NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 509 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TTTCTTATTCCAGACCAACAG 0.323 NA Bardet-Biedl_syndrome 5 49 0 0 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + Missense_Mutation SNP T T C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr7:100350361T>C uc003uwj.2 + 14 2798 c.2633T>C c.(2632-2634)CTC>CCC p.L878P ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 878 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502 NA 3 47 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126249445 126249445 + Missense_Mutation SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr7:126249445C>T uc003vlr.2 - 7 1776 c.1465G>A c.(1465-1467)GGC>AGC p.G489S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G489S|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 489 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTCCAGTGGCCGATGACTTTG 0.378 NA HNSCC(24;0.065) 15 93 0 0 0 0 TRIM24 8805 broad.mit.edu 37 7 138252356 138252356 + Missense_Mutation SNP A A C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr7:138252356A>C uc003vuc.2 + 10 1876 c.1661A>C c.(1660-1662)AAC>ACC p.N554T TRIM24_uc003vub.2_Missense_Mutation_p.N520T NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 554 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 ATAAAGCCAAACCCCCTACAG 0.423 NA 10 52 0 0 0 0 LSM1 27257 broad.mit.edu 37 8 38021331 38021331 + Missense_Mutation SNP G G T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr8:38021331G>T uc003xkw.2 - 4 447 c.259C>A c.(259-261)CTC>ATC p.L87I LSM1_uc003xkx.2_RNA NM_014462 NP_055277 O15116 LSM1_HUMAN Lsm1 protein 87 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 Colorectal(12;0.000442) ACTTGCTGGAGGGGTGTGTCA 0.458 NA 8 84 5.18e-06 2.47e-05 1 0 BAG4 9530 broad.mit.edu 37 8 38067634 38067634 + Missense_Mutation SNP G G C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr8:38067634G>C uc003xky.1 + 5 1279 c.997G>C c.(997-999)GAT>CAT p.D333H BAG4_uc003xkz.1_Missense_Mutation_p.D297H NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 333 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) TGATGATTCAGATCTTTTGGA 0.463 NA 12 121 0 0 0 0 BAG4 9530 broad.mit.edu 37 8 38067849 38067849 + Missense_Mutation SNP G G C TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr8:38067849G>C uc003xky.1 + 5 1494 c.1212G>C c.(1210-1212)AAG>AAC p.K404N BAG4_uc003xkz.1_Missense_Mutation_p.K368N NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 404 BAG. 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) TAGGAAAAAAGACAGACAAAG 0.423 NA 4 81 0 0 0 0 ODF1 4956 broad.mit.edu 37 8 103564263 103564263 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr8:103564263G>A uc003ykt.2 + 1 416 c.308G>A c.(307-309)CGA>CAA p.R103Q NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 103 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) GATGAGAAGCGAGAGCTTGCC 0.358 NA 14 101 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121259909 121259909 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr8:121259909G>A uc003yox.2 + 21 2802 c.2537G>A c.(2536-2538)CGC>CAC p.R846H COL14A1_uc003yoy.2_Missense_Mutation_p.R524H NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 846 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AACCGGTTGCGCATTACGTGG 0.458 NA 33 71 0 0 0 0 TJP2 9414 broad.mit.edu 37 9 71851111 71851111 + Missense_Mutation SNP A A T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr9:71851111A>T uc004ahe.2 + 13 2148 c.1948A>T c.(1948-1950)ATT>TTT p.I650F TJP2_uc011lrs.1_Missense_Mutation_p.I627F|TJP2_uc011lrt.1_Missense_Mutation_p.I627F|TJP2_uc004ahd.2_Missense_Mutation_p.I650F|TJP2_uc004ahf.2_Missense_Mutation_p.I650F|TJP2_uc011lru.1_Missense_Mutation_p.I654F|TJP2_uc011lrv.1_Missense_Mutation_p.I672F NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 650 SH3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GGCTGTGAGGATTGGGAACGA 0.522 NA 9 63 0 0 0 0 KIAA1984 84960 broad.mit.edu 37 9 139700965 139700965 + Silent SNP C C T TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr9:139700965C>T uc004cjf.2 + 11 1167 c.1119C>T c.(1117-1119)TCC>TCT p.S373S C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_RNA NM_001039374 NP_001034463 Q5T5S1 K1984_HUMAN hypothetical protein LOC84960 373 Potential. ovary(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) GCTTCAAGTCCGTTGAGAAGA 0.582 NA 4 34 0 0 0 0 TBX22 50945 broad.mit.edu 37 X 79282319 79282319 + Silent SNP C C A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chrX:79282319C>A uc010nmg.1 + 6 884 c.750C>A c.(748-750)TCC>TCA p.S250S TBX22_uc004edi.1_Silent_p.S130S|TBX22_uc004edj.1_Silent_p.S250S NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 250 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 AAACATTCTCCTTTAAAGAAA 0.478 NA 22 15 1.11e-12 5.4e-12 1 0 HPRT1 3251 broad.mit.edu 37 X 133609219 133609219 + Missense_Mutation SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chrX:133609219G>A uc004exl.3 + 3 310 c.143G>A c.(142-144)CGT>CAT p.R48H HPRT1_uc010nrs.2_RNA NM_000194 NP_000185 P00492 HPRT_HUMAN hypoxanthine phosphoribosyltransferase 1 48 R -> H (in GOUT-HPRT; AD and DD). adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity 0 Acute lymphoblastic leukemia(192;0.000127) Mercaptopurine(DB01033)|Thioguanine(DB00352) AGGACTGAACGTCTTGCTCGA 0.368 NA 7 25 0 0 0 0 KIAA1383 54627 broad.mit.edu 37 1 232940983 232940984 + Frame_Shift_Ins INS - - A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr1:232940983_232940984insA uc001hvh.2 + 1 346_347 c.214_215insA c.(214-216)CAAfs p.Q72fs NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 Error:Variant_position_missing_in_Q9P2G4_after_alignment ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) AGGTTGGTGGCAAAAAACGGCT 0.45 NA 37 96 --- --- --- --- NA NA NA NA RUNX1 861 broad.mit.edu 37 21 36171600 36171601 + Frame_Shift_Ins INS - - A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5c636c2d-f426-43a9-984d-b4455e4388e5 c956aeba-c031-410c-84af-af79863b044d g.chr21:36171600_36171601insA uc002yuh.2 - 5 2461_2462 c.883_884insT c.(883-885)TCAfs p.S295fs RUNX1_uc002yui.2_Frame_Shift_Ins_p.S231fs|RUNX1_uc010gmu.2_Frame_Shift_Ins_p.S322fs|RUNX1_uc010gmv.2_Frame_Shift_Ins_p.S322fs|RUNX1_uc002yuj.3_Frame_Shift_Ins_p.S190fs|RUNX1_uc002yuk.3_Frame_Shift_Ins_p.S322fs|RUNX1_uc002yul.1_Frame_Shift_Ins_p.S87fs|RUNX1_uc002yum.1_Frame_Shift_Ins_p.S126fs NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 295 Interaction with MYST3.|Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.S322fs*160(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TGGCTTACTTGAGAGTCGACTG 0.52 NA T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 14 81 --- --- --- --- NA NA NA NA