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 MTHFR 4524 broad.mit.edu 37 1 11861244 11861244 + Missense_Mutation SNP A A G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:11861244A>G uc001atb.1 - 1 716 c.518T>C c.(517-519)cTg>cCg p.L173P MTHFR_uc001atc.2_Missense_Mutation_p.L150P NM_005957 NP_005948 P42898 MTHR_HUMAN Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA. 150 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GATGTTCTTCAGGCCCAGCTG 0.602 IFI6 2537 broad.mit.edu 37 1 27992966 27992966 + Missense_Mutation SNP C C T rs74937564 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:27992966C>T uc001bon.1 - 4 466 c.343G>A c.(343-345)Gtc>Atc p.V115I IFI6_uc001boo.1_Missense_Mutation_p.V107I|IFI6_uc001bop.1_Missense_Mutation_p.V111I NM_022873 NP_075011 P09912 IFI6_HUMAN Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA. 107 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding lung(1)|ovary(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTACCTATGACGACGCTGCTG 0.542 LRRC40 55631 broad.mit.edu 37 1 70641517 70641517 + Missense_Mutation SNP T T G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:70641517T>G uc001der.2 - 6 1091 c.953A>C c.(952-954)gAc>gCc p.D318A NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA. 318 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 GTTGCTTAGGTCAAGCCTTTC 0.289 NEXN 91624 broad.mit.edu 37 1 78392171 78392171 + Missense_Mutation SNP A A T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:78392171A>T uc001dic.4 + 6 859 c.562A>T c.(562-564)Aat>Tat p.N188Y NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.4_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. 188 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) AATGAAAAAGAATTTTGAGGA 0.313 WDR63 126820 broad.mit.edu 37 1 85560129 85560129 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:85560129C>T uc001dkt.3 + 9 1255 c.1064C>T c.(1063-1065)tCg>tTg p.S355L WDR63_uc009wcl.3_Missense_Mutation_p.S316L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN Homo sapiens WD repeat domain 63 (WDR63), mRNA. 355 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) ATAGCTGTGTCGGTAGCCGTG 0.418 HRNR 388697 broad.mit.edu 37 1 152192836 152192836 + Silent SNP A A G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:152192836A>G uc001ezt.1 - 2 1345 c.1269T>C c.(1267-1269)tcT>tcC p.S423S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 423 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGGCCTGGAGACTGGCCAG 0.617 SPTA1 6708 broad.mit.edu 37 1 158654966 158654966 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr1:158654966C>T uc001fst.1 - 1 395 c.196G>A c.(196-198)Ggg>Agg p.G66R NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 66 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.L65M(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATCCACTtccccagatcatct 0.453 ANKRD30A 91074 broad.mit.edu 37 10 37506710 37506710 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:37506710G>A uc021ppc.1 + 32 3102 c.3003G>A c.(3001-3003)gaG>gaA p.E1001E ANKRD30A_uc001iza.1_Silent_p.E1001E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1057 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAATCGAAGAGCAGCATAGGA 0.328 ADAMTS14 140766 broad.mit.edu 37 10 72495039 72495039 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:72495039C>T uc001jrg.3 + 8 1476 c.1476C>T c.(1474-1476)ggC>ggT p.G492G ADAMTS14_uc001jrh.3_Silent_p.G489G|ADAMTS14_uc001jri.1_Silent_p.G12G NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 489 Disintegrin. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TTGGCAGTGGCTACCAGACCT 0.592 PTEN 5728 broad.mit.edu 37 10 89692993 89692993 + Missense_Mutation SNP G G T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:89692993G>T uc001kfb.3 + 4 1509 c.477G>T c.(475-477)agG>agT p.R159S PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 159 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R159S(14)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGGAAGTAAGGACCAGAGACA 0.368 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PTEN 5728 broad.mit.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C C T rs121909231 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:89720852C>T uc001kfb.3 + 7 2035 c.1003C>T c.(1003-1005)Cga>Tga p.R335* PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 335 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAAAGCCAACCGATACTTTTC 0.333 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) COL17A1 1308 broad.mit.edu 37 10 105798253 105798253 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:105798253G>A uc001kxr.3 - 44 3150 c.2981C>T c.(2980-2982)cCg>cTg p.P994L NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 994 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.P994L(4)|p.P994P(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCCTGGCGGGCCTGACAC 0.597 NANOS1 340719 broad.mit.edu 37 10 120790044 120790044 + Missense_Mutation SNP T T A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr10:120790044T>A uc009xzf.1 + 0 817 c.731T>A c.(730-732)cTg>cAg p.L244Q NM_199461 NP_955631 Q8WY41 NANO1_HUMAN Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA. 244 epithelial cell migration perinuclear region of cytoplasm protein binding|RNA binding|translation repressor activity|zinc ion binding lung(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0193) TGTCCCGTGCTGCGCCGCTAC 0.687 RASGRP2 10235 broad.mit.edu 37 11 64497600 64497600 + Frame_Shift_Del DEL C C - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr11:64497600delC uc009ypu.3 - 12 1706 c.1479delG c.(1477-1479)gggfs p.G493fs RASGRP2_uc001oat.3_Frame_Shift_Del_p.G395fs|RASGRP2_uc001oau.3_Frame_Shift_Del_p.G348fs|RASGRP2_uc009ypv.3_Frame_Shift_Del_p.G493fs|RASGRP2_uc009ypw.3_Frame_Shift_Del_p.G493fs NM_001098671 NP_722541 Q7LDG7 GRP2_HUMAN Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA. 493 G -> A (in dbSNP:rs2301562). platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGCCCATGCGCCCCCCCAACA 0.642 OR10S1 219873 broad.mit.edu 37 11 123847486 123847486 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr11:123847486G>A uc001pzm.1 - 0 913 c.913C>T c.(913-915)Cgg>Tgg p.R305W NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCCTTGTTCCGCAAAGTGTAA 0.527 AGAP2 116986 broad.mit.edu 37 12 58125706 58125706 + Silent SNP C C T rs145122115 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr12:58125706C>T uc001spq.3 - 7 1839 c.1839G>A c.(1837-1839)ccG>ccA p.P613P AGAP2_uc001spp.3_Silent_p.P613P|AGAP2_uc001spr.3_Silent_p.P277P NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA. 613 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding p.E612Q(1) breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TCGGTGAGGACGGGAGGGAAG 0.622 GPR133 283383 broad.mit.edu 37 12 131487809 131487809 + Missense_Mutation SNP C C T rs142314859 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr12:131487809C>T uc010tbm.2 + 10 1761 c.1202C>T c.(1201-1203)aCg>aTg p.T401M GPR133_uc001uit.4_Missense_Mutation_p.T369M NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 369 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P401P(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CACGGCAGCACGCCCCAGGTC 0.622 N6AMT2 221143 broad.mit.edu 37 13 21331636 21331636 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr13:21331636G>A uc001uno.1 - 1 183 c.102C>T c.(100-102)ggC>ggT p.G34G N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_Non-coding_Transcript NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA. 34 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TATCATCCTCGCCTGGCTCAA 0.418 CHD8 57680 broad.mit.edu 37 14 21876530 21876530 + Missense_Mutation SNP C C G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr14:21876530C>G uc001war.2 - 11 2736 c.2671G>C c.(2671-2673)Ggc>Cgc p.G891R CHD8_uc001was.2_Missense_Mutation_p.G612R|CHD8_uc001wav.1_Missense_Mutation_p.G54R NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 891 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCCAGACTGCCATGGTACACA 0.438 DHRS2 10202 broad.mit.edu 37 14 24109023 24109023 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr14:24109023C>T uc001wkt.4 + 3 786 c.339C>T c.(337-339)ggC>ggT p.G113G DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.4_Silent_p.G113G|DHRS2_uc010akv.3_Non-coding_Transcript NM_182908 NP_878912 Q13268 DHRS2_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA. 91 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) ACTGTGGGGGCGTCGACTTCC 0.637 LRRC16B 90668 broad.mit.edu 37 14 24524519 24524519 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr14:24524519G>A uc001wlj.2 + 8 762 c.605_splice c.e8+1 p.R202_splice NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 202 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) TTGGAGAGCCGGTAAGCAGAT 0.552 C15orf2 23742 broad.mit.edu 37 15 24921169 24921169 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr15:24921169G>A uc001ywo.3 + 0 629 c.155G>A c.(154-156)cGc>cAc p.R52H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 52 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGCCTGTTCCGCCGGAACGCC 0.756 SOLH 6650 broad.mit.edu 37 16 603459 603459 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:603459C>T uc002chi.3 + 13 3567 c.3204C>T c.(3202-3204)acC>acT p.T1068T SOLH_uc002chj.3_Silent_p.T128T NM_005632 NP_005623 O75808 CAN15_HUMAN Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA. 1068 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T1068T(2) breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Hepatocellular(780;0.00335) CCAAGGGGACCCACAGCCCCC 0.687 WDR90 197335 broad.mit.edu 37 16 715745 715745 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:715745C>T uc002cii.1 + 34 4432 c.4378C>T c.(4378-4380)Cgg>Tgg p.R1460W WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 1460 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TGGGAGTGTGCGGGTGTGGGC 0.672 OTOA 146183 broad.mit.edu 37 16 21698817 21698817 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:21698817C>T uc002djh.3 + 6 484 c.483C>T c.(481-483)ctC>ctT p.L161L LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L82L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 161 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GCCTGTTTCTCATCACACTGG 0.542 SCNN1G 6340 broad.mit.edu 37 16 23226433 23226433 + Missense_Mutation SNP C C A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:23226433C>A uc002dlm.1 + 12 1732 c.1593C>A c.(1591-1593)ttC>ttA p.F531L NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 531 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGTCCAACTTCGGTGGCCAGC 0.547 ITGAD 3681 broad.mit.edu 37 16 31409190 31409190 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:31409190G>A uc010cap.1 + 4 436 c.387G>A c.(385-387)tcG>tcA p.S129S ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 129 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.G128C(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGCTGGGCTCGCGCTGGGAGA 0.642 NLRC5 84166 broad.mit.edu 37 16 57054711 57054711 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:57054711C>T uc021tiu.1 + 1 214 c.87C>T c.(85-87)aaC>aaT p.N29N NLRC5_uc021tit.1_Silent_p.N29N|NLRC5_uc010ccq.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 29 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AATGGCTGAACGCCAAGATGA 0.562 NLRC5 84166 broad.mit.edu 37 16 57088674 57088674 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:57088674C>T uc021tiu.1 + 23 3645 c.3518C>T c.(3517-3519)aCg>aTg p.T1173M NLRC5_uc021tiv.1_Missense_Mutation_p.T978M|NLRC5_uc021tiw.1_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1173 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTGAGCCAGACGGGACTGTCC 0.592 KCTD19 146212 broad.mit.edu 37 16 67325657 67325657 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:67325657C>T uc002esu.2 - 12 2353 c.2302G>A c.(2302-2304)Gtg>Atg p.V768M KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 768 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTGCCCACCACGGGGGGGTGA 0.572 PKD1L2 114780 broad.mit.edu 37 16 81187697 81187697 + Missense_Mutation SNP G G C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr16:81187697G>C uc002fgh.1 - 25 4275 c.4275C>G c.(4273-4275)caC>caG p.H1425Q PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1425 PLAT. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GATCAGCCAGGTGGTGGGGCT 0.607 TP53 7157 broad.mit.edu 37 17 7578280 7578280 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:7578280G>A uc002gim.2 - 5 763 c.569C>T c.(568-570)cCt>cTt p.P190L TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 190 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) ATGCTGAGGAGGGGCCAGACC 0.552 111 """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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) TP53 7157 broad.mit.edu 37 17 7578466 7578466 + Missense_Mutation SNP G G T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:7578466G>T uc002gim.2 - 4 658 c.464C>A c.(463-465)aCc>aAc p.T155N TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 155 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GCGGACGCGGGTGCCGGGCGG 0.612 111 """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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) ODF4 146852 broad.mit.edu 37 17 8243550 8243550 + Missense_Mutation SNP C C T rs147153349 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:8243550C>T uc002gle.1 + 0 363 c.181C>T c.(181-183)Cgc>Tgc p.R61C NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA. 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.R61S(2) endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 CTTGGGCCAGCGCCAGAACTC 0.592 MYH13 8735 broad.mit.edu 37 17 10213133 10213133 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:10213133G>A uc002gmk.1 - 33 4761 c.4671C>T c.(4669-4671)caC>caT p.H1557H NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1557 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCTCTCCTCGTGTTCCAAGG 0.498 KRT27 342574 broad.mit.edu 37 17 38936090 38936090 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:38936090C>T uc002hvg.3 - 3 749 c.708G>A c.(706-708)gcG>gcA p.A236A NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN Homo sapiens keratin 27 (KRT27), mRNA. 236 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity p.A236A(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) TGCCTCCAGCCGCGCACTGAA 0.488 SEPT4 5414 broad.mit.edu 37 17 56599396 56599396 + Silent SNP C C A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:56599396C>A uc010wnx.2 - 6 919 c.774G>T c.(772-774)ctG>ctT p.L258L SEPT4_uc002iwk.2_Silent_p.L96L|SEPT4_uc010wnw.2_Silent_p.L96L|SEPT4_uc002iwl.2_Silent_p.L96L|SEPT4_uc002iwm.2_Silent_p.L243L|SEPT4_uc002iwo.2_Silent_p.L224L|SEPT4_uc002iwp.2_Silent_p.L224L|SEPT4_uc010wny.2_Silent_p.L235L|SEPT4_uc010dcy.2_Silent_p.L125L NM_080416 NP_536341 O43236 SEPT4_HUMAN Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA. 243 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCTTTCGGTTCAGGCCACTCT 0.542 SMG8 55181 broad.mit.edu 37 17 57290240 57290240 + Missense_Mutation SNP A A G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:57290240A>G uc002ixi.3 + 2 2098 c.2056A>G c.(2056-2058)Acc>Gcc p.T686A NM_018149 NP_060619 Q8ND04 SMG8_HUMAN Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA. 686 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AGAACCTCAAACCCAAGGAGA 0.453 CASKIN2 57513 broad.mit.edu 37 17 73498060 73498062 + In_Frame_Del DEL GGA GGA - rs150879399 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr17:73498060_73498062delGGA uc002joc.3 - 17 3643_3645 c.3093_3095delTCC c.(3091-3096)cctcca>cca p.1031_1032PP>P CASKIN2_uc010wsc.2_In_Frame_Del_p.949_950PP>P NM_020753 NP_001136115 Q8WXE0 CSKI2_HUMAN Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA. 1031 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTAGAAGCTGGAGGAGACTCGC 0.690 PTPRS 5802 broad.mit.edu 37 19 5221107 5221107 + Missense_Mutation SNP T T C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:5221107T>C uc002mbv.3 - 19 3593 c.3359A>G c.(3358-3360)aAc>aGc p.N1120S PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.2_Missense_Mutation_p.N689S|PTPRS_uc002mbw.3_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.3_Missense_Mutation_p.N693S|PTPRS_uc002mby.3_Missense_Mutation_p.N689S NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1120 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTTGAGCAGGTTGAAGGCAGT 0.622 EMR1 2015 broad.mit.edu 37 19 6928180 6928180 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:6928180G>A uc002mfw.3 + 16 2285 c.2247G>A c.(2245-2247)ggG>ggA p.G749G EMR1_uc010dvc.3_Silent_p.G684G|EMR1_uc010dvb.3_Silent_p.G697G|EMR1_uc010xji.2_Silent_p.G608G|EMR1_uc010xjj.2_Silent_p.G572G NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 749 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CAGAGACAGGGTTCATCTGGA 0.498 ZNF333 84449 broad.mit.edu 37 19 14829286 14829286 + Missense_Mutation SNP A A G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:14829286A>G uc002mzn.3 + 11 1281 c.1147A>G c.(1147-1149)Agg>Ggg p.R383G ZNF333_uc002mzk.4_Missense_Mutation_p.R274G NM_032433 NP_115809 Q96JL9 ZN333_HUMAN Homo sapiens zinc finger protein 333 (ZNF333), mRNA. 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 TGACCTTATCAGGCATGAGAA 0.453 OR7A17 26333 broad.mit.edu 37 19 14991924 14991924 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:14991924G>A uc010xob.2 - 0 244 c.244C>T c.(244-246)Ctc>Ttc p.L82F NM_030901 NP_112163 O14581 OR7AH_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) ATGTTAATGAGCATCTTTGGG 0.473 PSG5 5673 broad.mit.edu 37 19 43679606 43679606 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:43679606G>A uc002ovu.3 - 3 856 c.725C>T c.(724-726)cCc>cTc p.P242L PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P242L NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 242 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GTAAATGCTGGGGAGGTCTGG 0.498 ZNF845 91664 broad.mit.edu 37 19 53854397 53854397 + Missense_Mutation SNP G G C rs10415799 by1000genomes TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:53854397G>C uc010ydv.1 + 3 586 c.469G>C c.(469-471)Gaa>Caa p.E157Q ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E157Q(6) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAGACCGAAGGGAAAAT 0.408 LENG8 114823 broad.mit.edu 37 19 54969780 54969780 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:54969780C>T uc002qfv.1 + 13 2353 c.2209C>T c.(2209-2211)Cgc>Tgc p.R737C LENG8_uc002qfw.2_Intron|LENG8_uc021vbk.1_5'Flank Q96PV6 LENG8_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA. 740 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGCTCCTGGCCGCAGGCCTCC 0.602 KIR3DL2 3805 broad.mit.edu 37 19 55316286 55316286 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:55316286G>A uc010yfl.2 + 2 142 c.109G>A c.(109-111)Gct>Act p.A37T KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.A39T|KIR3DL2_uc002qhi.3_Missense_Mutation_p.A39T|KIR3DL2_uc021vbn.1_Missense_Mutation_p.A39T|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.A39T|KIR3DL2_uc010esd.3_Missense_Mutation_p.A39T|KIR3DL2_uc010ese.3_5'Flank NM_002255 NP_002246 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA. 132 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CTGGCCCAGCGCTGTGGTGCC 0.582 NLRP4 147945 broad.mit.edu 37 19 56369522 56369522 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr19:56369522C>T uc002qmd.4 + 2 1185 c.763C>T c.(763-765)Cgg>Tgg p.R255W NLRP4_uc002qmf.3_Missense_Mutation_p.R180W|NLRP4_uc010etf.3_Missense_Mutation_p.R86W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 255 NACHT. ATP binding p.R255R(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GATGGAGAAACGGCCGGTGCA 0.577 LTBP1 4052 broad.mit.edu 37 2 33335817 33335817 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:33335817G>A uc021vft.1 + 4 1056 c.1033_splice c.e4+1 p.L345_splice NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 345 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACCTTTTCAGCGTGAGTATA 0.423 KRCC1 51315 broad.mit.edu 37 2 88327482 88327482 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:88327482C>T uc002sso.1 - 3 995 c.601G>A c.(601-603)Gag>Aag p.E201K KRCC1_uc002ssp.1_Missense_Mutation_p.E201K|KRCC1_uc021vko.1_Missense_Mutation_p.E201K NM_016618 NP_057702 Q9NPI7 KRCC1_HUMAN Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA. 201 Lys-rich. cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 ATTTCCACCTCTGTTTTCTTT 0.398 IL18RAP 8807 broad.mit.edu 37 2 103057838 103057838 + Splice_Site SNP G G T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:103057838G>T uc002tbx.3 + 7 1280 c.796_splice c.e7+1 p.G266_splice IL18RAP_uc010fiz.3_Splice_Site_p.G124_splice NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 266 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GTAGAACTTGGTAAGCTGGGC 0.433 C2orf27A 29798 broad.mit.edu 37 2 132508374 132508374 + Translation_Start_Site SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:132508374G>A uc002ttf.1 + 1 NM_013310 NP_037442 Q580R0 CB027_HUMAN Homo sapiens chromosome 2 open reading frame 27A (C2orf27A), mRNA. kidney(1) 1 ATCAATTTTTGTGCATTCCCA 0.383 LRP2 4036 broad.mit.edu 37 2 170009381 170009381 + Missense_Mutation SNP A A G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:170009381A>G uc002ues.3 - 66 12602 c.12389T>C c.(12388-12390)cTt>cCt p.L4130P NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4130 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.N4129N(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTCCTGCACAAGATTATTGCG 0.478 LRP2 4036 broad.mit.edu 37 2 170101420 170101420 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:170101420C>T uc002ues.3 - 21 3426 c.3213G>A c.(3211-3213)gcG>gcA p.A1071A LRP2_uc010zdf.1_Silent_p.A934A NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1071 LDL-receptor class A 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.S1070L(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACAGGTGAACGCCGAAGATG 0.473 UBR3 130507 broad.mit.edu 37 2 170929938 170929940 + In_Frame_Del DEL GAA GAA - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:170929938_170929940delGAA uc010zdi.2 + 35 5020_5022 c.5020_5022delGAA c.(5020-5022)gaadel p.E1677del UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA. 1677 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TGTCTAAAAGGAAGAAGAAGAAT 0.379 AOX1 316 broad.mit.edu 37 2 201478598 201478598 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr2:201478598C>T uc002uvx.3 + 14 1621 c.1520C>T c.(1519-1521)gCg>gTg p.A507V AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 507 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.A507V(2)|p.A507A(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGGCTCGGCGCCAGGTGGG 0.473 MAPK1 5594 broad.mit.edu 37 22 22142672 22142672 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr22:22142672G>A uc002zvn.3 - 5 970 c.730C>T c.(730-732)Ctt>Ttt p.L244F MAPK1_uc002zvo.3_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron NM_002745 NP_620407 P28482 MK01_HUMAN Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA. 244 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GGGGATCCAAGAATACCTATC 0.353 IL2RB 3560 broad.mit.edu 37 22 37524496 37524496 + Silent SNP G G T rs143704470 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr22:37524496G>T uc003aqv.1 - 9 1427 c.1296C>A c.(1294-1296)ccC>ccA p.P432P NM_000878 NP_000869 P14784 IL2RB_HUMAN Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA. 432 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CGAGGAGACTGGGGGAGAAGA 0.662 TMPPE 643853 broad.mit.edu 37 3 33134390 33134390 + Missense_Mutation SNP C C A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr3:33134390C>A uc003cfk.2 - 1 1510 c.1298G>T c.(1297-1299)gGg>gTg p.G433V GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V|TMPPE_uc021wux.1_Missense_Mutation_p.G433V NM_001039770 NP_001129710 Q6ZT21 TMPPE_HUMAN Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA. 433 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 CATGGGTATCCCGTAGTAGGC 0.592 TMF1 7110 broad.mit.edu 37 3 69075241 69075241 + Missense_Mutation SNP T T C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr3:69075241T>C uc011bfx.2 - 13 3021 c.2774A>G c.(2773-2775)aAg>aGg p.K925R TMF1_uc003dnn.3_Missense_Mutation_p.K922R NM_007114 NP_009045 P82094 TMF1_HUMAN Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA. 922 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity p.S925Y(1) cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGAAAATGGCTTGCGTTCCTT 0.393 CPN2 1370 broad.mit.edu 37 3 194062679 194062679 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr3:194062679G>A uc003fts.3 - 1 843 c.753C>T c.(751-753)aaC>aaT p.N251N CPN2_uc021xix.1_Silent_p.N251N NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 251 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GCGTGATGGCGTTGCGTTGCA 0.602 RGS12 6002 broad.mit.edu 37 4 3432638 3432638 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:3432638C>T uc003ggw.3 + 16 4974 c.4070C>T c.(4069-4071)cCg>cTg p.P1357L RGS12_uc003ggv.3_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699L|RGS12_uc010icv.3_Missense_Mutation_p.P556L NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 1357 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity p.P1357L(2) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCTTGCTGCCGCCGCCCTCC 0.667 GABRB1 2560 broad.mit.edu 37 4 47405592 47405592 + Silent SNP G G T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:47405592G>T uc003gxh.3 + 6 1073 c.699G>T c.(697-699)ctG>ctT p.L233L GABRB1_uc011bze.2_Silent_p.L163L NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 233 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCCACGACTGTCACTAAGTT 0.398 PDGFRA 5156 broad.mit.edu 37 4 55133901 55133901 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:55133901G>A uc003han.4 + 6 1445 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 372 Ig-like C2-type 4. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AAAGATTCAGGAAATAAGGTA 0.463 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) PDGFRA 5156 broad.mit.edu 37 4 55144136 55144136 + Missense_Mutation SNP G G C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:55144136G>C uc003han.4 + 13 2296 c.1965G>C c.(1963-1965)ttG>ttC p.L655F PDGFRA_uc003haa.3_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 655 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGCCACATTTGAACATTGTAA 0.458 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:56304530_56304532delCTG uc003haz.1 - 22 3204_3206 c.2278_2280delCAG c.(2278-2280)cagdel p.Q760del CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript NM_004898 NP_004889 O15516 CLOCK_HUMAN Homo sapiens clock homolog (mouse) (CLOCK), mRNA. 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 GRID2 2895 broad.mit.edu 37 4 94411879 94411879 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:94411879G>A uc011cdt.2 + 11 2206 c.1948G>A c.(1948-1950)Gca>Aca p.A650T GRID2_uc011cdu.2_Missense_Mutation_p.A555T NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 650 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 NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 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) ATCTTACACGGCAAACCTCGC 0.438 NEUROG2 63973 broad.mit.edu 37 4 113436257 113436257 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr4:113436257C>T uc003ias.3 - 1 702 c.375G>A c.(373-375)atG>atA p.M125I NEUROG2_uc021xqu.1_Missense_Mutation_p.M125I NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN Homo sapiens neurogenin 2 (NEUROG2), mRNA. 125 Helix-loop-helix motif. positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) TGAGGTTGTGCATGCGGTTTC 0.672 PRDM9 56979 broad.mit.edu 37 5 23526957 23526957 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:23526957G>A uc003jgo.3 + 10 1942 c.1760G>A c.(1759-1761)cGg>cAg p.R587Q NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 587 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R587R(1)|p.G586G(1)|p.R587W(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GAGTGTGGGCGGGGCTTTAGC 0.607 HNSCC(3;0.000094) ANXA2R 389289 broad.mit.edu 37 5 43040058 43040058 + Nonsense_Mutation SNP C C A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:43040058C>A uc003jnf.3 - 0 390 c.91G>T c.(91-93)Gaa>Taa p.E31* LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank NM_001014279 NP_001014301 Q3ZCQ2 AX2R_HUMAN Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA. 31 receptor activity CCACGATCTTCTGAACTCACA 0.567 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAP3K1 4214 broad.mit.edu 37 5 56168506 56168506 + Missense_Mutation SNP T T C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:56168506T>C uc003jqw.4 + 7 1963 c.1462T>C c.(1462-1464)Tgt>Cgt p.C488R NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 488 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding p.Y488Y(1) NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ACCTTTAATATGTCCCCTTTG 0.279 GPR98 84059 broad.mit.edu 37 5 89989726 89989726 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:89989726C>T uc003kju.3 + 32 7249 c.7153C>T c.(7153-7155)Ctg>Ttg p.L2385L GPR98_uc003kjt.3_Silent_p.L91L|GPR98_uc003kjv.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2385 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 NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 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) CTTTGGTCGGCTGTTGTTGTT 0.428 FBN2 2201 broad.mit.edu 37 5 127728841 127728841 + Silent SNP G G T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:127728841G>T uc003kuu.3 - 9 1891 c.1452C>A c.(1450-1452)atC>atA p.I484I FBN2_uc003kuv.2_Silent_p.I451I NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 484 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTCCAGTGATGATAGGTCCCT 0.498 PCDHGC5 8641 broad.mit.edu 37 5 140768969 140768969 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr5:140768969C>T uc003lkc.2 + 0 1518 c.1518C>T c.(1516-1518)agC>agT p.S506S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 510 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCATAAGCGCGGAGAGCG 0.662 UHRF1BP1 54887 broad.mit.edu 37 6 34827265 34827265 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr6:34827265G>A uc003oju.4 + 13 3366 c.3132G>A c.(3130-3132)gtG>gtA p.V1044V UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 1044 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGAAGCTGTGTCCCTGACTA 0.517 MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr6:76599857_76599858insA uc003pih.1 + 25 3021_3022 c.2742_2743insA c.(2740-2745)cagaaafs p.Q914fs MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs NM_004999 NP_004990 Q9UM54 MYO6_HUMAN Homo sapiens myosin VI (MYO6), mRNA. 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 ZNF735 730291 broad.mit.edu 37 7 63680474 63680474 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:63680474G>A uc011kdn.2 + 3 1045 c.1045G>A c.(1045-1047)Gga>Aga p.G349R NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AATTCATACTGGAGAGAAACC 0.403 TAF6 6878 broad.mit.edu 37 7 99706049 99706049 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:99706049G>A uc003uth.3 - 11 1707 c.1570C>T c.(1570-1572)Cgg>Tgg p.R524W AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Missense_Mutation_p.R389W|TAF6_uc003utm.3_Missense_Mutation_p.R467W|TAF6_uc003uti.3_Missense_Mutation_p.R467W|TAF6_uc003utk.3_Missense_Mutation_p.R467W|TAF6_uc011kji.2_Missense_Mutation_p.R504W NM_139315 NP_647476 P49848 TAF6_HUMAN Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA. 467 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCTGGGCCCGAGCCTTGACC 0.642 GRM8 2918 broad.mit.edu 37 7 126173406 126173406 + Missense_Mutation SNP A A G TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:126173406A>G uc003vlr.2 - 7 2341 c.2030T>C c.(2029-2031)tTt>tCt p.F677S GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 677 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.I676M(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCCTGCTCAAATATTCGGTG 0.502 HNSCC(24;0.065) UBN2 254048 broad.mit.edu 37 7 138969015 138969015 + Missense_Mutation SNP C C A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr7:138969015C>A uc011kqr.2 + 14 3364 c.3364C>A c.(3364-3366)Cag>Aag p.Q1122K NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 1122 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CATCAGCAGACAGTCTCCCAC 0.498 ARHGEF10 9639 broad.mit.edu 37 8 1871717 1871717 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr8:1871717G>A uc003wpr.3 + 19 2521 c.2343G>A c.(2341-2343)gcG>gcA p.A781A ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.3_Silent_p.A743A|ARHGEF10_uc003wpv.3_Silent_p.A514A|ARHGEF10_uc010lre.3_Silent_p.A461A NM_014629 NP_055444 O15013 ARHGA_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA. 806 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TCAGAGCTGCGGACTGCTGCA 0.418 CTHRC1 115908 broad.mit.edu 37 8 104390318 104390318 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr8:104390318C>T uc003ylk.3 + 2 535 c.436C>T c.(436-438)Cgg>Tgg p.R146W NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA. 146 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) TGGCTCACTTCGGCTAAAATG 0.373 TG 7038 broad.mit.edu 37 8 134042090 134042090 + Frame_Shift_Del DEL G G - TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr8:134042090delG uc003ytw.3 + 40 7102 c.7061delG c.(7060-7062)tggfs p.W2354fs TG_uc010mdw.3_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.2_Frame_Shift_Del_p.W723fs|TG_uc011ljc.2_Frame_Shift_Del_p.W487fs NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2354 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGTGGCAACTGGGGGCTGCTG 0.577 DOCK8 81704 broad.mit.edu 37 9 439266 439266 + Missense_Mutation SNP G G C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:439266G>C uc003zgf.2 + 39 5213 c.5101G>C c.(5101-5103)Gag>Cag p.E1701Q DOCK8_uc022bcu.1_Missense_Mutation_p.E1633Q|DOCK8_uc010mgv.3_Missense_Mutation_p.E1601Q|DOCK8_uc010mgu.3_Missense_Mutation_p.E1003Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 1701 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAATGTGCTGGAGGAGTCTGT 0.552 FOCAD 54914 broad.mit.edu 37 9 20821058 20821058 + Missense_Mutation SNP T T C TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:20821058T>C uc003zog.1 + 15 2144 c.1781T>C c.(1780-1782)aTa>aCa p.I594T FOCAD_uc003zoh.1_Missense_Mutation_p.I30T NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 594 integral to membrane binding ATCAGAGATATATGTAAGCAG 0.368 TAF1L 138474 broad.mit.edu 37 9 32630579 32630579 + Missense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:32630579C>T uc003zrg.1 - 0 5089 c.4999G>A c.(4999-5001)Gat>Aat p.D1667N AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1667 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCATACATATCAGGAGGCTGA 0.463 ZNF658 26149 broad.mit.edu 37 9 40772401 40772401 + Missense_Mutation SNP T T A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:40772401T>A uc004abs.2 - 4 3026 c.2874A>T c.(2872-2874)agA>agT p.R958S ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN Homo sapiens zinc finger protein 658 (ZNF658), mRNA. 958 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CTGTGTGAATTCTTTGATGTA 0.438 TNFSF8 944 broad.mit.edu 37 9 117666360 117666360 + Missense_Mutation SNP C C T rs145748228 TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chr9:117666360C>T uc004bji.2 - 3 848 c.556G>A c.(556-558)Gta>Ata p.V186I TNFSF8_uc022bmi.1_Intron NM_001244 NP_001235 P32971 TNFL8_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA. 186 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 TTCTGGTATACGTGTTTCGTT 0.418 BCOR 54880 broad.mit.edu 37 X 39923055 39923055 + Nonsense_Mutation SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:39923055C>T uc004den.4 - 7 3945 c.3653G>A c.(3652-3654)tGg>tAg p.W1218* BCOR_uc004dep.4_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.4_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Nonsense_Mutation_p.W1184* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 1218 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTGCTGCTCCCATCGTTCTCT 0.542 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic TAF1 6872 broad.mit.edu 37 X 70680612 70680612 + Silent SNP C C T TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:70680612C>T uc004dzu.4 + 36 5406 c.5355C>T c.(5353-5355)gaC>gaT p.D1785D BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.D1806D|TAF1_uc004dzv.4_Silent_p.D993D|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 1785 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ATGAGGGAGACGGTGGGGAGG 0.507 CYLC1 1538 broad.mit.edu 37 X 83128394 83128394 + Silent SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:83128394G>A uc004eei.1 + 3 699 c.678G>A c.(676-678)agG>agA p.R226R CYLC1_uc004eeh.1_Silent_p.R225R NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 226 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 ATTTGAAGAGGTCAAAGACTA 0.318 PCDH11X 27328 broad.mit.edu 37 X 91132792 91132792 + Missense_Mutation SNP G G A TCGA-06-2559-01A-01D-1494-08 TCGA-06-2559-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8df5560b-9f8f-4636-bdb2-1af8b45df1ba 3b989d83-d6cc-41a8-bf7b-b3e50adb99ea g.chrX:91132792G>A uc004efk.2 + 1 2398 c.1553G>A c.(1552-1554)cGt>cAt p.R518H PCDH11X_uc004efl.2_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.2_Missense_Mutation_p.R518H|PCDH11X_uc004efm.2_Missense_Mutation_p.R518H|PCDH11X_uc004efn.2_Missense_Mutation_p.R518H|PCDH11X_uc004efo.2_Missense_Mutation_p.R518H|PCDH11X_uc004efh.2_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 518 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding p.R518S(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTGGATTGTCGTACAGGCATG 0.433