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 RLF 6018 broad.mit.edu 37 1 40668129 40668129 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:40668129G>A uc001cfc.3 + 5 684 c.653G>A c.(652-654)CGA>CAA p.R218Q NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 218 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CTGCAAATGCGAATAAAACAT 0.333 NA 21 88 0 0 0 0 MSH4 4438 broad.mit.edu 37 1 76378560 76378560 + Missense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:76378560G>T uc001dhd.1 + 20 2840 c.2799G>T c.(2797-2799)AAG>AAT p.K933N NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 933 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TTCCAGAAAAGACTGAAGAAT 0.303 NA MMR 9 38 1.34e-11 1.63e-11 1 0 GBP7 388646 broad.mit.edu 37 1 89618020 89618020 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:89618020C>T uc001dna.2 - 5 695 c.556G>A c.(556-558)GAG>AAG p.E186K GBP2_uc001dmy.1_5'Flank NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 186 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) AACTTCAGCTCCAGGGTAAAA 0.478 NA 6 227 0 0 0 0 C1orf103 55791 broad.mit.edu 37 1 111495337 111495337 + Missense_Mutation SNP G G C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:111495337G>C uc001eaa.2 - 2 425 c.169C>G c.(169-171)CCA>GCA p.P57A 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 57 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) TGAACTAGTGGTATAAGATTT 0.398 NA 22 99 0 0 0 0 NOTCH2 4853 broad.mit.edu 37 1 120510064 120510064 + Missense_Mutation SNP C C G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:120510064C>G uc001eik.2 - 8 1701 c.1445G>C c.(1444-1446)TGC>TCC p.C482S NOTCH2_uc001eil.2_Missense_Mutation_p.C482S|NOTCH2_uc001eim.3_Missense_Mutation_p.C399S NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 482 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCTGGCATGCACAGACATGT 0.488 NA N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 85 247 0 0 0 0 PSMD4 5710 broad.mit.edu 37 1 151238835 151238835 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:151238835G>A uc001exl.2 + 8 877 c.815G>A c.(814-816)CGC>CAC p.R272H PSMD4_uc001exn.2_Missense_Mutation_p.R275H NM_002810 NP_002801 P55036 PSMD4_HUMAN proteasome 26S non-ATPase subunit 4 272 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAGTTTGGCCGCACTGGGCTT 0.547 NA 5 228 0 0 0 0 ZNF687 57592 broad.mit.edu 37 1 151260750 151260750 + Silent SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:151260750G>A uc001exq.2 + 2 2081 c.1983G>A c.(1981-1983)CCG>CCA p.P661P ZNF687_uc001exp.1_Silent_p.P670P|ZNF687_uc009wmo.2_Silent_p.P661P|ZNF687_uc009wmp.2_Silent_p.P661P NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCACAGAGCCGCCTGCTGCCC 0.637 NA 18 54 0 0 0 0 RC3H1 149041 broad.mit.edu 37 1 173934116 173934116 + Missense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:173934116G>T uc001gju.3 - 9 1564 c.1477C>A c.(1477-1479)CTG>ATG p.L493M RC3H1_uc010pms.1_Missense_Mutation_p.L493M|RC3H1_uc001gjv.2_Missense_Mutation_p.L493M|RC3H1_uc010pmt.1_Missense_Mutation_p.L493M NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 493 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CCATTTGGCAGAGCAGGAGGT 0.483 NA 59 150 2.79e-41 3.56e-41 1 0 DHX9 1660 broad.mit.edu 37 1 182827949 182827949 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:182827949G>A uc001gpr.2 + 10 1145 c.982G>A c.(982-984)GGT>AGT p.G328S DHX9_uc001gps.2_Missense_Mutation_p.G114S NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 328 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 AAACCAAGTGGGTGTGGTTCC 0.438 NA 48 127 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228480267 228480267 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:228480267C>T uc009xez.1 + 40 10691 c.10647C>T c.(10645-10647)GCC>GCT p.A3549A OBSCN_uc001hsn.2_Silent_p.A3549A|OBSCN_uc001hsq.1_Silent_p.A805A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3549 Ig-like 36. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACCAGGAGGCCAGAGAAGGGG 0.552 NA 4 216 0 0 0 0 AGAP5 729092 broad.mit.edu 37 10 75434549 75434549 + Missense_Mutation SNP G G C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr10:75434549G>C uc009xri.2 - 8 1910 c.1869C>G c.(1867-1869)GAC>GAG p.D623E AGAP5_uc001juu.3_Missense_Mutation_p.D584E NM_001144000 NP_001137472 A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 623 ANK 1. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CCGTGCAGCCGTCTCCCTCCC 0.662 NA 38 223 0 0 0 0 GBF1 8729 broad.mit.edu 37 10 104118286 104118286 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr10:104118286C>T uc001kux.1 + 10 1051 c.811C>T c.(811-813)CCC>TCC p.P271S GBF1_uc001kuw.2_Missense_Mutation_p.P271S|GBF1_uc001kuy.1_Missense_Mutation_p.P271S|GBF1_uc001kuz.1_Missense_Mutation_p.P271S NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 271 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CATTGATGTGCCCACTCCCAT 0.517 NA 4 145 0 0 0 0 TMEM80 283232 broad.mit.edu 37 11 703061 703061 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr11:703061G>A uc001lqr.2 + 5 555 c.418G>A c.(418-420)GCG>ACG p.A140T TMEM80_uc001lqs.2_Missense_Mutation_p.A132T|TMEM80_uc010qwi.1_Missense_Mutation_p.A140T NM_001042463 NP_001035928 Q96HE8 TMM80_HUMAN transmembrane protein 80 isoform 2 140 Helical; (Potential). integral to membrane 0 all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGTGTTGTGGGCGGACTGGGC 0.697 NA 30 61 0 0 0 0 TRAF6 7189 broad.mit.edu 37 11 36511809 36511809 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr11:36511809C>T uc001mwr.1 - 8 1488 c.1148G>A c.(1147-1149)GGC>GAC p.G383D uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.G383D NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 383 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) CCCGGGTTTGCCAGTGTAGAA 0.433 NA 4 277 0 0 0 0 OR5M10 390167 broad.mit.edu 37 11 56345153 56345153 + Silent SNP T T C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr11:56345153T>C uc001niz.1 - 1 45 c.45A>G c.(43-45)TTA>TTG p.L15L NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGTCAGTCCTAAGAGAATGA 0.458 NA 7 149 0 0 0 0 OR5M1 390168 broad.mit.edu 37 11 56380883 56380883 + Silent SNP A A C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr11:56380883A>C uc001nja.1 - 1 96 c.96T>G c.(94-96)CTT>CTG p.L32L NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GGTAGATCGCAAGGAATACCC 0.493 NA 10 124 0 0 0 0 OR5M1 390168 broad.mit.edu 37 11 56380889 56380889 + Silent SNP T T C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr11:56380889T>C uc001nja.1 - 1 90 c.90A>G c.(88-90)GTA>GTG p.V30V NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCGCAAGGAATACCCCAAACA 0.478 NA 13 127 0 0 0 0 TMEM179B 374395 broad.mit.edu 37 11 62557444 62557444 + Silent SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr11:62557444G>A uc001nvd.3 + 5 615 c.585G>A c.(583-585)CGG>CGA p.R195R NM_199337 NP_955369 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 195 integral to membrane 0 CCCCATACCGGCCTCTGGAGA 0.557 NA 75 232 0 0 0 0 CCDC77 84318 broad.mit.edu 37 12 539877 539877 + Missense_Mutation SNP G G C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:539877G>C uc001qig.2 + 7 738 c.558G>C c.(556-558)CAG>CAC p.Q186H CCDC77_uc009zdk.2_Missense_Mutation_p.Q154H|CCDC77_uc010sdp.1_Missense_Mutation_p.Q154H|CCDC77_uc010sdq.1_Missense_Mutation_p.Q154H NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 186 centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) AATGTGAGCAGAGTGAATCTT 0.343 NA 67 252 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717097 13717097 + Silent SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:13717097G>A uc001rbt.2 - 13 3254 c.3075C>T c.(3073-3075)ATC>ATT p.I1025I NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1025 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGGGAGGCCGATGTCCAGGG 0.587 NA 19 56 0 0 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30863009 30863009 + Missense_Mutation SNP A A C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:30863009A>C uc001rji.1 - 18 3962 c.3211T>G c.(3211-3213)TTG>GTG p.L1071V CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.L738V|CAPRIN2_uc001rjh.1_Missense_Mutation_p.L1021V|CAPRIN2_uc001rjj.1_Missense_Mutation_p.L737V|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 1071 C1q. negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GCTGATACCAAGACCTCTTCA 0.443 NA 35 124 0 0 0 0 DDN 23109 broad.mit.edu 37 12 49391856 49391856 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:49391856C>T uc001rsv.1 - 2 821 c.803G>A c.(802-804)CGC>CAC p.R268H uc001rsw.2_5'Flank NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 268 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 CTTCTTTGTGCGCCCTCCGTC 0.652 NA 5 158 0 0 0 0 DDN 23109 broad.mit.edu 37 12 49391990 49391990 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:49391990C>T uc001rsv.1 - 2 687 c.669G>A c.(667-669)CGG>CGA p.R223R uc001rsw.2_5'Flank NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 223 Interaction with MAGI2. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 AGGGTGGCGGCCGGTCCCAGC 0.701 NA 3 61 0 0 0 0 AAAS 8086 broad.mit.edu 37 12 53715239 53715239 + Missense_Mutation SNP A A C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:53715239A>C uc001scr.3 - 1 174 c.11T>G c.(10-12)CTG>CGG p.L4R AAAS_uc001scs.3_Missense_Mutation_p.L4R NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 4 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 GAACAACCCCAGAGAGCACAT 0.622 NA OREG0021865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 103 239 0 0 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398238 57398238 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:57398238G>A uc001sml.1 - 2 550 c.464C>T c.(463-465)CCC>CTC p.P155L RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TTCTCCAAGGGGATGGGCAGG 0.552 NA 79 151 0 0 0 0 RNF10 9921 broad.mit.edu 37 12 120995094 120995094 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr12:120995094A>G uc001typ.3 + 5 1138 c.655A>G c.(655-657)AGC>GGC p.S219G RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.S125G NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 219 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGCATTTGTAGCCATGAAGT 0.483 NA 3 212 0 0 0 0 TPTE2 93492 broad.mit.edu 37 13 19997299 19997299 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr13:19997299C>A uc001umd.2 - 21 1683 c.1472G>T c.(1471-1473)TGT>TTT p.C491F TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.C380F|TPTE2_uc001ume.2_Missense_Mutation_p.C414F|TPTE2_uc009zzm.2_Missense_Mutation_p.C162F|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.C162F NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 491 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCTTGGTAGACAAAGCCTAAG 0.353 NA 10 89 2.18e-05 2.47e-05 1 0 IFT88 8100 broad.mit.edu 37 13 21219018 21219018 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr13:21219018G>A uc001unh.2 + 22 2293 c.1897G>A c.(1897-1899)GAG>AAG p.E633K IFT88_uc001uni.2_Missense_Mutation_p.E624K|IFT88_uc001unj.2_Missense_Mutation_p.E623K|IFT88_uc010tcq.1_Missense_Mutation_p.E604K NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 633 TPR 11. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) TGAAGTCATTGAGTGGCTTGG 0.308 NA 36 149 0 0 0 0 C14orf93 60686 broad.mit.edu 37 14 23459034 23459034 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr14:23459034A>G uc001wib.1 - 5 1311 c.1001T>C c.(1000-1002)ATT>ACT p.I334T C14orf93_uc001wic.1_Missense_Mutation_p.I154T|C14orf93_uc001wid.1_Missense_Mutation_p.I334T|C14orf93_uc001wig.2_Missense_Mutation_p.I334T|C14orf93_uc001wih.2_Missense_Mutation_p.I334T|C14orf93_uc001wie.2_Missense_Mutation_p.I334T|C14orf93_uc001wia.3_Missense_Mutation_p.I334T|C14orf93_uc001wif.2_Missense_Mutation_p.I154T NM_021944 NP_068763 Q9H972 CN093_HUMAN hypothetical protein LOC60686 precursor 334 extracellular region ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) CACTACTGAAATATTCCAAGA 0.418 NA 37 96 0 0 0 0 MBIP 51562 broad.mit.edu 37 14 36783737 36783737 + Silent SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr14:36783737A>G uc001wtm.2 - 4 640 c.552T>C c.(550-552)AAT>AAC p.N184N MBIP_uc001wto.2_Silent_p.N184N|MBIP_uc010tpy.1_Silent_p.N43N|MBIP_uc001wtn.2_Silent_p.N184N NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 isoform 1 184 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity 0 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) AATCAATAACATTGCAAAATT 0.279 NA 13 44 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65262141 65262141 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr14:65262141G>A uc001xht.2 - 11 1612 c.1558C>T c.(1558-1560)CGG>TGG p.R520W SPTB_uc001xhr.2_Missense_Mutation_p.R520W|SPTB_uc001xhs.2_Missense_Mutation_p.R520W|SPTB_uc001xhu.2_Missense_Mutation_p.R520W NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 520 Spectrin 3. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCTGGCGCCGGGACTGCAGC 0.602 NA 32 80 0 0 0 0 BTBD7 55727 broad.mit.edu 37 14 93717956 93717956 + Missense_Mutation SNP G G A rs147262200 by1000genomes TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr14:93717956G>A uc001ybo.2 - 8 2121 c.1795C>T c.(1795-1797)CGC>TGC p.R599C BTBD7_uc010aur.2_Missense_Mutation_p.R124C|BTBD7_uc010two.1_Missense_Mutation_p.R419C|BTBD7_uc001ybp.2_Missense_Mutation_p.R248C NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 599 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ATTCGCAAGCGCACAAGATCC 0.438 NA 5 327 0 0 0 0 CYP46A1 10858 broad.mit.edu 37 14 100188342 100188342 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr14:100188342G>A uc001ygo.2 + 12 1115 c.1115G>A c.(1114-1116)CGC>CAC p.R372H CYP46A1_uc001ygp.2_Missense_Mutation_p.R219H NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 372 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) GGCACCTTTCGCCTGCTGGAA 0.622 NA 45 123 0 0 0 0 ALPK3 57538 broad.mit.edu 37 15 85384098 85384098 + Silent SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr15:85384098C>A uc002ble.2 + 5 2361 c.2194C>A c.(2194-2196)CGG>AGG p.R732R NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 732 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCCCCCTGCCCGGCGGAGACA 0.647 NA 28 48 4.78e-09 5.61e-09 1 0 CLUAP1 23059 broad.mit.edu 37 16 3554771 3554771 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr16:3554771A>G uc002cvk.1 + 2 179 c.74A>G c.(73-75)GAA>GGA p.E25G CLUAP1_uc002cvj.1_Missense_Mutation_p.E25G|CLUAP1_uc002cvl.1_Missense_Mutation_p.E25G NM_015041 NP_055856 Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 isoform 1 25 nucleus protein binding ovary(1)|breast(1)|pancreas(1) 3 ATTTCTATGGAAAATTTCCGT 0.413 NA 23 100 0 0 0 0 DNAH3 55567 broad.mit.edu 37 16 20959878 20959878 + Missense_Mutation SNP T T C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr16:20959878T>C uc010vbe.1 - 57 11270 c.11270A>G c.(11269-11271)AAG>AGG p.K3757R DNAH3_uc010vbd.1_Missense_Mutation_p.K1192R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3757 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) CTCAATTTCCTTACAGTAGAA 0.527 NA 3 85 0 0 0 0 ZNF768 79724 broad.mit.edu 37 16 30537133 30537133 + Nonsense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr16:30537133G>A uc002dyk.3 - 2 504 c.328C>T c.(328-330)CAG>TAG p.Q110* ZNF768_uc010vex.1_Nonsense_Mutation_p.Q79*|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Nonsense_Mutation_p.Q79* NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 110 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 TCAGGGCTCTGAGAATCTGAT 0.592 NA 61 172 0 0 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77387771 77387771 + Silent SNP C C A rs148669189 TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr16:77387771C>A uc002ffc.3 - 10 1892 c.1473G>T c.(1471-1473)GCG>GCT p.A491A ADAMTS18_uc010chc.1_Silent_p.A79A|ADAMTS18_uc002ffe.1_Silent_p.A187A NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 491 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CTAGACACCCCGCCTGAGGTG 0.418 NA 57 226 2.68e-24 3.37e-24 1 0 MAF 4094 broad.mit.edu 37 16 79633679 79633679 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr16:79633679G>A uc002ffn.2 - 1 944 c.121C>T c.(121-123)CGC>TGC p.R41C MAF_uc002ffm.2_Missense_Mutation_p.R41C NM_001031804 NP_001026974 O75444 MAF_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 41 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) CTGATGATGCGGTCGGTCTCC 0.607 NA T IGH@ MM 19 55 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579310 7579310 + Splice_Site SNP A A T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr17:7579310A>T uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.0?(7)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) AGGGCAACTGACCGTGCAAGT 0.532 111 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) 56 81 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36485440 36485440 + Nonsense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr17:36485440G>A uc002hpz.2 - 11 4033 c.4012C>T c.(4012-4014)CAG>TAG p.Q1338* NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1338 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) CCAGGGTCCTGAGGAGCTGAC 0.612 NA 36 134 0 0 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66518980 66518980 + Silent SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr17:66518980C>A uc002jhg.2 + 3 441 c.261C>A c.(259-261)CCC>CCA p.P87P PRKAR1A_uc002jhh.2_Silent_p.P87P|PRKAR1A_uc002jhi.2_Silent_p.P87P|PRKAR1A_uc002jhj.2_Silent_p.P87P|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Silent_p.P87P|PRKAR1A_uc002jhm.2_Silent_p.P87P NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 87 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) CTCCTCCACCCAACCCAGTGG 0.488 NA T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of 4 126 0.000602214 0.000661722 1 0 ABCA5 23461 broad.mit.edu 37 17 67310534 67310534 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr17:67310534A>G uc002jif.2 - 1 1241 c.23T>C c.(22-24)GTA>GCA p.V8A ABCA5_uc002jig.2_Missense_Mutation_p.V8A|ABCA5_uc002jih.2_Missense_Mutation_p.V8A|ABCA5_uc010dfe.2_Missense_Mutation_p.V8A NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 8 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) CCAAACTCCTACCTCCCTAAT 0.358 NA 5 208 0 0 0 0 CABLES1 91768 broad.mit.edu 37 18 20833900 20833900 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr18:20833900C>T uc002kuc.2 + 9 1761 c.1761C>T c.(1759-1761)GAC>GAT p.D587D C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Silent_p.D90D|CABLES1_uc002kud.2_Silent_p.D322D NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 587 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) ATTTAATTGACGTAAGTAGCC 0.507 NA 19 60 0 0 0 0 C18orf8 29919 broad.mit.edu 37 18 21098936 21098936 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr18:21098936C>T uc010xax.1 + 8 857 c.736C>T c.(736-738)CTA>TTA p.L246L C18orf8_uc010xau.1_Silent_p.L89L|C18orf8_uc010xav.1_Silent_p.L198L|C18orf8_uc010xaw.1_Silent_p.L89L|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 246 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCTCTATCATCTACCACGGTA 0.433 NA 29 101 0 0 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389470 6389470 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr19:6389470C>T uc002meq.2 - 4 596 c.311G>A c.(310-312)GGC>GAC p.G104D GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.G76D NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 104 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 GCCTGATTTGCCGTTGACCCG 0.612 NA 4 279 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9059514 9059514 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr19:9059514C>A uc002mkp.2 - 3 28136 c.27932G>T c.(27931-27933)AGT>ATT p.S9311I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9313 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGTGGGCACACTAGAAAGGAC 0.498 NA 5 275 0.000602214 0.000661722 1 0 ZNF844 284391 broad.mit.edu 37 19 12187475 12187475 + Missense_Mutation SNP C C G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr19:12187475C>G uc002mtb.2 + 4 1683 c.1540C>G c.(1540-1542)CAT>GAT p.H514D ZNF844_uc010dym.1_Missense_Mutation_p.H357D NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGCCTTCACATCTGCCTCA 0.408 NA 3 101 0 0 0 0 CACNA1A 773 broad.mit.edu 37 19 13366020 13366020 + Silent SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr19:13366020C>A uc010dze.2 - 29 4883 c.4647G>T c.(4645-4647)CCG>CCT p.P1549P CACNA1A_uc010xnd.1_Silent_p.P254P|CACNA1A_uc002mwx.3_Silent_p.P254P|CACNA1A_uc010dzc.2_Silent_p.P1074P|CACNA1A_uc002mwy.3_Silent_p.P1548P|CACNA1A_uc010xne.1_Silent_p.P1077P|CACNA1A_uc002mwv.3_Silent_p.P65P NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1549 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCTTGTTCTGCGGCATGTGTC 0.607 NA 3 38 0.004672 0.00505376 1 0 ZNF222 7673 broad.mit.edu 37 19 44536829 44536829 + Silent SNP C C G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr19:44536829C>G uc002oyc.2 + 4 1185 c.1002C>G c.(1000-1002)GTC>GTG p.V334V ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Silent_p.V374V|ZNF222_uc002oyd.2_Silent_p.V280V NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 334 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) ATCAACGAGTCCACACTGGAG 0.428 NA 48 194 0 0 0 0 TTC15 51112 broad.mit.edu 37 2 3391502 3391502 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:3391502C>T uc002qxm.1 + 2 314 c.108C>T c.(106-108)ATC>ATT p.I36I TTC15_uc002qxn.1_Silent_p.I36I|TTC15_uc010ewm.1_Silent_p.I36I|TTC15_uc002qxl.1_Silent_p.I36I NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 36 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) AGGAAACCATCGATCTTGGCG 0.652 NA 6 20 0 0 0 0 AGBL5 60509 broad.mit.edu 37 2 27278581 27278581 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:27278581C>A uc002rie.2 + 7 1157 c.940C>A c.(940-942)CAG>AAG p.Q314K AGBL5_uc002ric.2_Missense_Mutation_p.Q314K|AGBL5_uc002rid.2_Missense_Mutation_p.Q314K|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 314 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGAACCGTCAGTACCTGAA 0.537 NA 24 134 1.55e-16 1.92e-16 1 0 AGBL5 60509 broad.mit.edu 37 2 27278587 27278587 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:27278587C>T uc002rie.2 + 7 1163 c.946C>T c.(946-948)CTG>TTG p.L316L AGBL5_uc002ric.2_Silent_p.L316L|AGBL5_uc002rid.2_Silent_p.L316L|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 316 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGTCAGTACCTGAAGCCTGA 0.542 NA 25 137 0 0 0 0 FSHR 2492 broad.mit.edu 37 2 49190547 49190547 + Silent SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:49190547G>T uc002rww.2 - 10 1487 c.1413C>A c.(1411-1413)ATC>ATA p.I471I FSHR_uc002rwx.2_Silent_p.I409I|FSHR_uc010fbn.2_Silent_p.I445I NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 471 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGGCATGCGTGATGGTATGCC 0.542 NA Gonadal_Dysgenesis_46_XX 16 46 6.32e-08 7.38e-08 1 0 APLF 200558 broad.mit.edu 37 2 68740274 68740274 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:68740274A>G uc002sep.2 + 4 577 c.404A>G c.(403-405)AAT>AGT p.N135S APLF_uc010fdf.2_Missense_Mutation_p.N111S NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 135 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 CCCGTGATTAATTTACCTCAT 0.358 NA 55 126 0 0 0 0 CTNNA2 1496 broad.mit.edu 37 2 80620389 80620389 + Silent SNP T T C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:80620389T>C uc010ysh.1 + 7 1115 c.1110T>C c.(1108-1110)ACT>ACC p.T370T CTNNA2_uc010yse.1_Silent_p.T370T|CTNNA2_uc010ysf.1_Silent_p.T370T|CTNNA2_uc010ysg.1_Silent_p.T370T|CTNNA2_uc010ysi.1_Silent_p.T2T NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 370 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATAAGATGACTAAGAAAACAA 0.318 NA 56 158 0 0 0 0 MAT2A 4144 broad.mit.edu 37 2 85769823 85769823 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:85769823G>A uc002spr.2 + 7 1027 c.904G>A c.(904-906)GCA>ACA p.A302T MAT2A_uc010ysr.1_Missense_Mutation_p.A302T|MAT2A_uc010fgk.2_Missense_Mutation_p.A276T|MAT2A_uc010fgl.2_Missense_Mutation_p.A239T NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 302 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCGTTGGGTGGCAAAATCCCT 0.478 NA 4 112 0 0 0 0 GPR45 11250 broad.mit.edu 37 2 105858867 105858867 + Silent SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:105858867G>T uc002tco.1 + 1 668 c.552G>T c.(550-552)CTG>CTT p.L184L NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 184 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 AGTGCGTGCTGGGCTACACGG 0.687 NA 9 38 0.00829132 0.00893406 1 0 RGPD4 285190 broad.mit.edu 37 2 108496477 108496477 + Missense_Mutation SNP A A C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr2:108496477A>C uc010ywk.1 + 21 5060 c.4978A>C c.(4978-4980)AGT>CGT p.S1660R RGPD4_uc002tdu.2_Missense_Mutation_p.S847R|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1660 intracellular transport binding skin(2) 2 TCAGAAGCTCAGTTCCACCAC 0.408 NA 4 237 0 0 0 0 TBC1D20 128637 broad.mit.edu 37 20 419364 419364 + Missense_Mutation SNP T T A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr20:419364T>A uc002wds.2 - 8 1216 c.1078A>T c.(1078-1080)ACC>TCC p.T360S TBC1D20_uc002wdv.2_Missense_Mutation_p.T183S|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA NM_144628 NP_653229 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 360 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1) 1 all_epithelial(17;0.228)|Breast(17;0.231) CTTGGCTTGGTCAGGACATCT 0.567 NA 91 227 0 0 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + Missense_Mutation SNP A A T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr21:11058168A>T uc002yit.1 - 3 480 c.272T>A c.(271-273)CTG>CAG p.L91Q BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388 NA 8 179 0 0 0 0 GCAT 23464 broad.mit.edu 37 22 38212212 38212212 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr22:38212212G>A uc003atz.2 + 8 1012 c.992G>A c.(991-993)CGT>CAT p.R331H GCAT_uc003aua.1_Missense_Mutation_p.R357H NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 331 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CACAGGTTCCGTAGTAAGATG 0.612 NA 26 60 0 0 0 0 ZBTB20 26137 broad.mit.edu 37 3 114057937 114057937 + Missense_Mutation SNP G G C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr3:114057937G>C uc003ebi.2 - 5 2321 c.2141C>G c.(2140-2142)ACT>AGT p.T714S ZBTB20_uc003ebj.2_Missense_Mutation_p.T641S|ZBTB20_uc010hqp.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebk.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebl.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebm.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebn.2_Missense_Mutation_p.T641S NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 714 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCAGACGTAAGTGGTCCCCTC 0.612 NA 4 138 0 0 0 0 RAB7A 7879 broad.mit.edu 37 3 128526498 128526498 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr3:128526498G>A uc003eks.1 + 5 744 c.512G>A c.(511-513)CGG>CAG p.R171Q RAB7A_uc010hsv.1_Missense_Mutation_p.R124Q|RAB7A_uc003ekt.2_Intron NM_004637 NP_004628 P51149 RAB7A_HUMAN RAB7, member RAS oncogene family 171 endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle GDP binding|GTP binding|GTPase activity|protein binding 0 GBM - Glioblastoma multiforme(114;0.231) ACGATTGCACGGAATGCACTT 0.577 NA 4 234 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134885846 134885846 + Missense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr3:134885846G>T uc003eqt.2 + 9 1977 c.1757G>T c.(1756-1758)CGA>CTA p.R586L EPHB1_uc003equ.2_Missense_Mutation_p.R147L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 586 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 AGCACAGGCCGAGGTAAGTAG 0.547 NA 89 420 1.59e-47 2.05e-47 1 0 IFT80 57560 broad.mit.edu 37 3 160025482 160025482 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr3:160025482C>A uc011boy.1 - 10 1478 c.1045G>T c.(1045-1047)GTT>TTT p.V349F IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.V212F|IFT80_uc003fdd.1_Missense_Mutation_p.V32F|IFT80_uc003fde.1_Missense_Mutation_p.V212F NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 349 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GACGTTGAAACAACTAAGTGT 0.358 NA 27 61 5.62e-17 6.97e-17 1 0 GRID2 2895 broad.mit.edu 37 4 94138038 94138038 + Missense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr4:94138038G>T uc011cdt.1 + 6 1197 c.939G>T c.(937-939)AAG>AAT p.K313N GRID2_uc010ikx.2_Missense_Mutation_p.K313N|GRID2_uc011cdu.1_Missense_Mutation_p.K218N|GRID2_uc010ikz.1_Translation_Start_Site NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 313 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GTGATCCAAAGGATCCATTTG 0.418 NA 52 179 4.33e-22 5.43e-22 1 0 UNC5C 8633 broad.mit.edu 37 4 96256707 96256707 + Missense_Mutation SNP T T C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr4:96256707T>C uc003htp.1 - 2 354 c.200A>G c.(199-201)GAG>GGG p.E67G UNC5C_uc010ilc.1_Missense_Mutation_p.E67G|UNC5C_uc003htq.2_Missense_Mutation_p.E67G NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 67 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTCTTCAGGCTCAATAAGGAA 0.418 NA 3 140 0 0 0 0 NR3C2 4306 broad.mit.edu 37 4 149357399 149357399 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr4:149357399C>A uc003ilj.3 - 2 948 c.614G>T c.(613-615)TGC>TTC p.C205F NR3C2_uc003ilk.3_Missense_Mutation_p.C205F|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 205 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) AGCAGGGCTGCAAACCGAAGA 0.537 NA 30 95 7.38e-10 8.85e-10 1 0 CMYA5 202333 broad.mit.edu 37 5 79032114 79032114 + Missense_Mutation SNP A A T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:79032114A>T uc003kgc.2 + 2 7598 c.7526A>T c.(7525-7527)AAA>ATA p.K2509I NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2509 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAAGAATCAAAAGCCGATGCT 0.368 NA 22 81 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89943453 89943453 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:89943453C>T uc003kju.2 + 17 3257 c.3161C>T c.(3160-3162)CCT>CTT p.P1054L GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1054 Calx-beta 8.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATTTCATTCCTGTTGAAAAA 0.423 NA 41 137 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90106533 90106533 + Silent SNP T T C TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:90106533T>C uc003kju.2 + 74 15552 c.15456T>C c.(15454-15456)CCT>CCC p.P5152P GPR98_uc003kjt.2_Silent_p.P2858P|GPR98_uc003kjw.2_Silent_p.P813P NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5152 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTCTCATTCCTGTAGAAACTG 0.458 NA 85 237 0 0 0 0 SLC23A1 9963 broad.mit.edu 37 5 138714989 138714989 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:138714989G>A uc003leh.2 - 9 1077 c.980C>T c.(979-981)GCC>GTC p.A327V SLC23A1_uc003leg.2_Missense_Mutation_p.A331V NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 327 Helical; (Potential). brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) TGCCAGAGTGGCGCTGAACAT 0.607 NA 34 78 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176610 140176610 + Silent SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:140176610G>T uc003lhd.2 + 1 2167 c.2061G>T c.(2059-2061)GCG>GCT p.A687A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A687A|PCDHA2_uc011czy.1_Silent_p.A687A NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 687 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGCCGCGGGCTCAGAGG 0.647 NA 39 152 5.57e-27 7.08e-27 1 0 PCDHA13 56136 broad.mit.edu 37 5 140261993 140261993 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:140261993G>A uc003lif.2 + 1 140 c.140G>A c.(139-141)CGC>CAC p.R47H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R47H|PCDHA13_uc003lid.2_Missense_Mutation_p.R47H NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 47 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGTGGGCCGCATCGCTCAG 0.642 NA 78 221 0 0 0 0 ABLIM3 22885 broad.mit.edu 37 5 148620311 148620311 + Missense_Mutation SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:148620311A>G uc003lpy.2 + 14 1528 c.1277A>G c.(1276-1278)CAG>CGG p.Q426R ABLIM3_uc003lpz.1_Missense_Mutation_p.Q426R|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 426 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTCTTACCAGGCTCCCAAG 0.592 NA 3 201 0 0 0 0 SLU7 10569 broad.mit.edu 37 5 159831502 159831502 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr5:159831502C>T uc003lyg.2 - 15 1681 c.1526G>A c.(1525-1527)CGA>CAA p.R509Q NM_006425 NP_006416 O95391 SLU7_HUMAN step II splicing factor SLU7 509 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTGCTCTTTCGATGcttctt 0.269 NA 16 104 0 0 0 0 HIST1H2BH 8345 broad.mit.edu 37 6 26251971 26251971 + Silent SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr6:26251971A>G uc003nhh.2 + 1 93 c.93A>G c.(91-93)AAA>AAG p.K31K HIST1H3F_uc003nhg.1_5'Flank NM_003524 NP_003515 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 31 nucleosome assembly nucleosome|nucleus DNA binding ovary(3) 3 AGAAGCGTAAACGCAGCCGCA 0.557 NA 62 206 0 0 0 0 TRIM39 56658 broad.mit.edu 37 6 30309645 30309645 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr6:30309645C>T uc010jrz.2 + 9 1478 c.1166C>T c.(1165-1167)ACC>ATC p.T389I TRIM39_uc003npz.2_Missense_Mutation_p.T359I|TRIM39_uc003nqb.2_Missense_Mutation_p.T359I|TRIM39_uc003nqc.2_Missense_Mutation_p.T359I|TRIM39_uc010jsa.1_Missense_Mutation_p.T359I NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 389 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 GAGGGTTTCACCTCAGGTCGA 0.592 NA 22 94 0 0 0 0 HLA-C 3107 broad.mit.edu 37 6 31238903 31238903 + Missense_Mutation SNP A A T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr6:31238903A>T uc003nsy.2 - 3 573 c.566T>A c.(565-567)GTG>GAG p.V189E HLA-C_uc011dnj.1_Missense_Mutation_p.V161E|HLA-C_uc003nsx.2_Missense_Mutation_p.V68E|HLA-C_uc003nsz.2_Missense_Mutation_p.V189E|HLA-C_uc010jsl.2_Missense_Mutation_p.V189E|HLA-C_uc003nta.2_Missense_Mutation_p.V189E|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_Mutation_p.V68E|HLA-B_uc003ntf.2_Missense_Mutation_p.V189E NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 189 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 GAGCCACTCCACGCACGTGCC 0.677 NA 4 65 0 0 0 0 MRPS10 55173 broad.mit.edu 37 6 42185571 42185571 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr6:42185571G>A uc003osa.3 - 1 63 c.17C>T c.(16-18)GCG>GTG p.A6V MRPS10_uc011dup.1_5'UTR NM_018141 NP_060611 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 6 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome 0 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) AGCACCGAACGCTGTCCGCGC 0.597 NA 12 53 0 0 0 0 TMEM63B 55362 broad.mit.edu 37 6 44117677 44117677 + Missense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr6:44117677G>T uc003owr.2 + 16 1559 c.1495G>T c.(1495-1497)GCC>TCC p.A499S TMEM63B_uc003ows.2_Missense_Mutation_p.A402S|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 499 Helical; (Potential). integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTACTACTCAGCCTTCTTTGA 0.602 NA 11 23 1.42e-15 1.74e-15 1 0 KCNQ5 56479 broad.mit.edu 37 6 73900382 73900382 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr6:73900382C>A uc003pgk.2 + 12 2011 c.1664C>A c.(1663-1665)GCT>GAT p.A555D KCNQ5_uc011dyh.1_Missense_Mutation_p.A574D|KCNQ5_uc011dyi.1_Missense_Mutation_p.A565D|KCNQ5_uc010kat.2_Missense_Mutation_p.A546D|KCNQ5_uc011dyj.1_Missense_Mutation_p.A445D|KCNQ5_uc011dyk.1_Missense_Mutation_p.A305D NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 555 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CAATATTCTGCTGGTCATCTG 0.353 NA 29 81 1.16e-09 1.38e-09 1 0 FAM71F1 84691 broad.mit.edu 37 7 128359088 128359088 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr7:128359088C>T uc003vno.1 + 3 691 c.638C>T c.(637-639)ACG>ATG p.T213M FAM71F1_uc010llo.1_Missense_Mutation_p.T114M|FAM71F1_uc011koq.1_Missense_Mutation_p.T105M|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.T114M|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.T213M NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 213 skin(1) 1 ATTCTTGTCACGCACTGCCTG 0.537 NA 5 214 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192727 132192727 + Silent SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr7:132192727G>T uc003vra.3 - 2 955 c.726C>A c.(724-726)ATC>ATA p.I242I PLXNA4_uc003vrc.2_Silent_p.I242I|PLXNA4_uc003vrb.2_Silent_p.I242I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 242 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 AGACATAGTAGATATCAAAGT 0.498 NA 20 89 1.02e-10 1.23e-10 1 0 TBXAS1 6916 broad.mit.edu 37 7 139636105 139636105 + Missense_Mutation SNP A A T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr7:139636105A>T uc011kqv.1 + 5 616 c.452A>T c.(451-453)GAG>GTG p.E151V TBXAS1_uc003vvh.2_Missense_Mutation_p.E151V|TBXAS1_uc010lne.2_Missense_Mutation_p.E83V|TBXAS1_uc011kqu.1_Missense_Mutation_p.E102V|TBXAS1_uc003vvi.2_Missense_Mutation_p.E151V|TBXAS1_uc003vvj.2_Missense_Mutation_p.E151V|TBXAS1_uc011kqw.1_Missense_Mutation_p.E131V NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 150 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) AAGCTGAACGAGGTAAGACAT 0.473 NA 92 288 0 0 0 0 EPHA1 2041 broad.mit.edu 37 7 143088775 143088775 + Nonsense_Mutation SNP G G T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr7:143088775G>T uc003wcz.2 - 17 2877 c.2790C>A c.(2788-2790)TAC>TAA p.Y930* NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 930 SAM.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AGTGCAGGATGTAGCGTTTCA 0.607 NA 13 41 1.03e-11 1.25e-11 1 0 WDR67 93594 broad.mit.edu 37 8 124156985 124156985 + Missense_Mutation SNP G G A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr8:124156985G>A uc003ypp.1 + 20 2954 c.2864G>A c.(2863-2865)CGT>CAT p.R955H WDR67_uc011lig.1_Missense_Mutation_p.R859H|WDR67_uc011lih.1_Missense_Mutation_p.R845H|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R589H|WDR67_uc003ypt.1_Missense_Mutation_p.R347H|WDR67_uc003ypu.1_Missense_Mutation_p.R347H NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 955 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AAAGAGTTCCGTTTGAGATCA 0.358 NA 24 101 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131949376 131949376 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr8:131949376C>T uc003ytd.3 - 5 1680 c.1424G>A c.(1423-1425)CGC>CAC p.R475H ADCY8_uc010mds.2_Missense_Mutation_p.R475H NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 475 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGGTCCTGGCGGGGCTCAGG 0.507 NA HNSCC(32;0.087) 25 131 0 0 0 0 PTK2 5747 broad.mit.edu 37 8 141678371 141678371 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr8:141678371C>T uc003yvu.2 - 30 3092 c.2862G>A c.(2860-2862)GTG>GTA p.V954V PTK2_uc011ljp.1_Silent_p.V262V|PTK2_uc003yvo.2_Silent_p.V582V|PTK2_uc011ljq.1_Silent_p.V652V|PTK2_uc003yvp.2_Silent_p.V622V|PTK2_uc003yvq.2_Silent_p.V459V|PTK2_uc003yvr.2_Silent_p.V897V|PTK2_uc003yvs.2_Silent_p.V908V|PTK2_uc003yvt.2_Silent_p.V976V|PTK2_uc003yvv.2_Silent_p.V857V|PTK2_uc011ljr.1_Silent_p.V967V NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 954 Interaction with TGFB1I1.|Interaction with RGNEF (By similarity). axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ATTTTACCTTCACCATAGGGA 0.488 NA OREG0019022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 83 0 0 0 0 PTK2 5747 broad.mit.edu 37 8 141856357 141856357 + Splice_Site SNP A A G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr8:141856357A>G uc003yvu.2 - 7 823 c.593_splice c.e7+1 p.E198_splice PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Splice_Site_p.E97_splice|PTK2_uc003yvs.2_Splice_Site_p.E198_splice|PTK2_uc003yvt.2_Splice_Site_p.E220_splice|PTK2_uc003yvv.2_Splice_Site_p.E85_splice|PTK2_uc011ljr.1_Splice_Site_p.E198_splice NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TACAATACTTACTCTAATACT 0.303 NA 27 124 0 0 0 0 KIF27 55582 broad.mit.edu 37 9 86482718 86482718 + Missense_Mutation SNP G G A rs3199677 by1000genomes TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr9:86482718G>A uc004ana.2 - 13 2959 c.2815C>T c.(2815-2817)CGC>TGC p.R939C KIF27_uc010mpw.2_Missense_Mutation_p.R873C|KIF27_uc010mpx.2_Intron NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 939 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 AATTCTTGGCGTTGGTTCAGA 0.373 NA 18 158 0 0 0 0 SCAI 286205 broad.mit.edu 37 9 127734036 127734036 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr9:127734036C>T uc004bpe.2 - 16 1568 c.1487G>A c.(1486-1488)CGC>CAC p.R496H SCAI_uc004bpd.2_Missense_Mutation_p.R519H|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 496 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 TAGGCCTCTGCGCATGCTTGA 0.423 NA 53 163 0 0 0 0 XIAP 331 broad.mit.edu 37 X 123040864 123040864 + Missense_Mutation SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chrX:123040864C>T uc010nqu.2 + 7 1453 c.1327C>T c.(1327-1329)CGC>TGC p.R443C XIAP_uc004etx.2_Missense_Mutation_p.R443C|XIAP_uc010nqv.2_Missense_Mutation_p.R69C NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 443 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 GCAGCTAAGGCGCCTGCAAGA 0.323 NA X-linked_Lymphoproliferative_syndrome 37 33 0 0 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685920 125685920 + Silent SNP C C T TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chrX:125685920C>T uc004eul.2 - 1 923 c.672G>A c.(670-672)CCG>CCA p.P224P NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 224 WD 2. skin(3)|ovary(1) 4 CGAACTTGTCCGGGTCCATCC 0.642 NA 33 33 0 0 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215772 130215772 + Missense_Mutation SNP C C G TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chrX:130215772C>G uc004evz.2 + 2 478 c.133C>G c.(133-135)CGC>GGC p.R45G ARHGAP36_uc004ewa.2_Missense_Mutation_p.R33G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R14G|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 45 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CAACCCCGACCGCAGGACGAA 0.547 NA 73 143 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16461022 16461023 + Frame_Shift_Ins INS - - A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr1:16461022_16461023insA uc001aya.1 - 8 1759_1760 c.1622_1623insT c.(1621-1623)GTGfs p.V541fs NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 541 Helical; (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CACCGACAGCCACGCCGCCAAT 0.594 NA 18 57 --- --- --- --- NA NA NA NA CDYL2 124359 broad.mit.edu 37 16 80646543 80646543 + Frame_Shift_Del DEL G G - TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2201e681-a727-4fd2-adec-cbcb543b2232 8aec558c-7b7e-47dd-b84f-db6dabacbd12 g.chr16:80646543delG uc002ffs.2 - 5 1303 c.1198delC c.(1198-1200)CAGfs p.Q400fs NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 400 nucleus catalytic activity|protein binding central_nervous_system(1) 1 CCCAGGATCTGGGGGAAGGTG 0.627 NA 44 184 --- --- --- --- NA NA NA NA