Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 118 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 218 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122685179 122685179 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr12:122685179C>T ENST00000339777.4 + 9 1620 c.1592C>T c.(1591-1593)aCg>aTg p.T531M LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M|LRRC43_ENST00000537733.1_3'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 531 Lys-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) aaagacaggacggggaaagga 0.582000 11 39 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43042409 43042409 + Missense_Mutation SNP C C T rs147342965 by1000genomes TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr20:43042409C>T ENST00000316099.3 + 4 550 c.461C>T c.(460-462)gCg>gTg p.A154V HNF4A_ENST00000415691.1_Missense_Mutation_p.A154V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 154 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCCATCAATGCGCTCCTGCAG 0.632000 3 9 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703526 48703526 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr17:48703526G>A ENST00000352832.5 + 34 6539 c.6167G>A c.(6166-6168)aGc>aAc p.S2056N CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2183N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2183 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CACTCCCGCAGCCACAGCAAG 0.657000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 25 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186444599 186444599 + Splice_Site SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr4:186444599C>T ENST00000284767.5 - 3 314 c.245_splice c.e3-1 p.G83_splice PDLIM3_ENST00000284770.5_Splice_Site_p.G83_splice|PDLIM3_ENST00000284771.6_Splice_Site_p.G83_splice Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 83 PDZ. sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) TGAGTTTCTCCCCTGGAAATA 0.343000 6 17 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 27 0 0 1 0 0 COA6 388753 broad.mit.edu 37 1 234509498 234509498 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr1:234509498C>T ENST00000366613.1 + 1 70 c.34C>T c.(34-36)Cgc>Tgc p.R12C COA6_ENST00000366615.4_Intron|COA6_ENST00000366612.1_5'UTR NM_001012985.2 NP_001013003.1 cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) GTCCCCGAGCCGCGGGTTCCT 0.642000 24 35 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732118 100732118 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr7:100732118C>T ENST00000306085.6 + 3 1822 c.1525C>T c.(1525-1527)Cgg>Tgg p.R509W NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 509 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GCGGTCCCCCCGGATCACCGG 0.652000 48 95 0 0 1 0 0 GPR61 0 broad.mit.edu 37 1 110085791 110085791 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr1:110085791G>A ENST00000527748.1 + 2 830 c.147G>A c.(145-147)atG>atA p.M49I RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 49 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TCTTCTTCATGCTCCTGCTGG 0.602000 4 72 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22016507 22016507 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr1:22016507C>T ENST00000308271.9 - 24 3617 c.2969G>A c.(2968-2970)gGc>gAc p.G990D USP48_ENST00000529637.1_Missense_Mutation_p.G1002D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D|USP48_ENST00000374732.3_Missense_Mutation_p.G476D NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 990 Ubiquitin-like. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GCCAAGGGTGCCTAGGGTGGC 0.383000 36 38 0 0 1 0 0 ZNF720 124411 broad.mit.edu 37 16 31766535 31766535 + Missense_Mutation SNP A A T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr16:31766535A>T ENST00000399681.3 + 6 1402 c.923A>T c.(922-924)tAc>tTc p.Y308F ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron Q7Z2F6 ZN720_HUMAN zinc finger protein 720 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding endometrium(1)|kidney(1)|lung(1)|stomach(1) 4 GAAAAACTTTACAAATGTAAA 0.358000 3 6 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866888 131866888 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr7:131866888G>A ENST00000359827.3 - 17 4182 c.3220C>T c.(3220-3222)Cgt>Tgt p.R1074C PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C Q9HCM2 PLXA4_HUMAN plexin A4 1074 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGCTTGGCACGGATCTGGGGG 0.542000 6 96 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47957593 47957593 + Missense_Mutation SNP T T C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr3:47957593T>C ENST00000426837.2 - 8 1862 c.1775A>G c.(1774-1776)gAt>gGt p.D592G MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000360240.6_Missense_Mutation_p.D575G P27816 MAP4_HUMAN microtubule-associated protein 4 575 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGTGGAACATCTTTGGCTGG 0.483000 72 116 0 0 1 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126283484 126283484 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr11:126283484G>A ENST00000526727.1 + 9 1230 c.856G>A c.(856-858)Gcc>Acc p.A286T ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 286 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) CTACCCAGACGCCTACAACAA 0.592000 20 23 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41274830 41274830 + Splice_Site SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr3:41274830A>G ENST00000349496.5 + 8 1361 c.e8-1 CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TTAATTTTCTAGGTGGAATGC 0.408000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 8 54 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41919937 41919937 + Missense_Mutation SNP T T C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr22:41919937T>C ENST00000396512.3 + 12 1566 c.1549T>C c.(1549-1551)Tcc>Ccc p.S517P ACO2_ENST00000216254.4_Missense_Mutation_p.S492P Q99798 ACON_HUMAN aconitase 2, mitochondrial 492 T -> K (in Ref. 1; AAB38416). citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CTTTGTCACGTCCCCAGAGGT 0.617000 13 12 0 0 1 0 0 UHRF2 115426 broad.mit.edu 37 9 6499916 6499916 + Missense_Mutation SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr9:6499916A>G ENST00000276893.5 + 13 2158 c.1990A>G c.(1990-1992)Agg>Ggg p.R664G UHRF2_ENST00000485617.2_3'UTR NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 664 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) AACCACAAAAAGGCCAATTTC 0.433000 7 10 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 4 60 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 27 25 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71152482 71152482 + Silent SNP A A C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr11:71152482A>C ENST00000355527.3 - 6 693 c.417T>G c.(415-417)gtT>gtG p.V139V DHCR7_ENST00000407721.2_Silent_p.V139V NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 139 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) ACTTGTTCACAACCCCTGCAG 0.572000 Smith-Lemli-Opitz syndrome 3 7 0 0 1 0 0 NOP58 51602 broad.mit.edu 37 2 203165048 203165048 + Missense_Mutation SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr2:203165048A>G ENST00000264279.5 + 13 1586 c.1360A>G c.(1360-1362)Att>Gtt p.I454V NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 454 Lys-rich. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 AGAGGATGAAATTACTGAAAA 0.333000 9 89 0 0 1 0 0 ANKRD46 157567 broad.mit.edu 37 8 101542045 101542045 + Missense_Mutation SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr8:101542045A>G ENST00000520311.1 - 3 820 c.17T>C c.(16-18)gTa>gCa p.V6A ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.V6A NM_001270378.1 NP_001257307.1 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 6 integral to membrane kidney(1)|large_intestine(2)|lung(4) 7 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) AGAATCATTTACAAAAACATA 0.408000 4 64 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938029 76938029 + Nonsense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chrX:76938029G>A ENST00000373344.5 - 9 2933 c.2719C>T c.(2719-2721)Cga>Tga p.R907* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 907 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1)|p.R907*(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTAGGAAGTCGATCTCTTAAT 0.418000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 139 28 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 220 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676316 52676316 + Missense_Mutation SNP T T G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr13:52676316T>G ENST00000355568.4 - 10 861 c.722A>C c.(721-723)cAa>cCa p.Q241P NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 241 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AGGAGATACTTGAAAGAGCTG 0.413000 20 252 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47648590 47648590 + Missense_Mutation SNP T T C rs148821408 byFrequency TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr20:47648590T>C ENST00000371917.4 + 38 5068 c.5068T>C c.(5068-5070)Tgc>Cgc p.C1690R NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1690 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TTCTAGTGTTTGCAGTGAAGC 0.383000 28 258 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 21 7 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173877 207173877 + Missense_Mutation SNP A A G TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr2:207173877A>G ENST00000374423.3 + 5 5011 c.4625A>G c.(4624-4626)gAt>gGt p.D1542G NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1542 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GTAATTTCAGATGATATTCCC 0.398000 6 13 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51465603 51465603 + Missense_Mutation SNP A A C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr10:51465603A>C ENST00000374095.5 - 7 978 c.853T>G c.(853-855)Tgt>Ggt p.C285G NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 285 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 CCATTGGAACACAGGGTGACG 0.433000 28 325 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9476055 9476055 + Missense_Mutation SNP C C T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr3:9476055C>T ENST00000402198.1 + 5 650 c.215C>T c.(214-216)tCg>tTg p.S72L SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.S72L|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L NM_001080517.1 NP_001073986.1 Q9C0A6 SETD5_HUMAN SET domain containing 5 72 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GGCCTGCCGTCGCCTGTAGAG 0.552000 4 41 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18913286 18913286 + Silent SNP A A T TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chrX:18913286A>T ENST00000379942.4 - 31 3971 c.3306T>A c.(3304-3306)ggT>ggA p.G1102G PHKA2_ENST00000481718.1_5'UTR NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1102 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GGAGGACATAACCATCGATGG 0.537000 19 45 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24696194 24696194 + Missense_Mutation SNP C C A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr1:24696194C>A ENST00000374409.1 - 7 961 c.707G>T c.(706-708)tGc>tTc p.C236F STPG1_ENST00000337248.4_Missense_Mutation_p.C236F|STPG1_ENST00000003583.8_Missense_Mutation_p.C189F|STPG1_ENST00000440416.1_Missense_Mutation_p.C189F|STPG1_ENST00000468303.1_5'UTR NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 AACTTTTGTGCAATCACTGGG 0.418000 6 86 0.000157383 0.000161222 1 1 0 PDE10A 10846 broad.mit.edu 37 6 165863791 165863791 + Silent SNP C C G rs144686330 TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr6:165863791C>G ENST00000366882.1 - 5 409 c.255G>C c.(253-255)cgG>cgC p.R85R PDE10A_ENST00000354448.4_Silent_p.R85R|PDE10A_ENST00000539869.2_Silent_p.R95R Q9Y233 PDE10_HUMAN phosphodiesterase 10A 85 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.R85R(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTGTGTCCAACCGTTGTTCTA 0.348000 61 91 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57829214 57829214 + Missense_Mutation SNP C C A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr20:57829214C>A ENST00000371030.2 + 5 4450 c.4450C>A c.(4450-4452)Cat>Aat p.H1484N NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1484 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TTTTCCCCACCATGACATTGC 0.493000 4 96 0.00909568 0.00909568 1 1 0 MIA3 375056 broad.mit.edu 37 1 222827800 222827800 + Missense_Mutation SNP T T C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr1:222827800T>C ENST00000344922.5 + 17 4472 c.4447T>C c.(4447-4449)Tcc>Ccc p.S1483P MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1483 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AGCCTCCGTGTCCACTAAATG 0.373000 16 34 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65650804 65650804 + Missense_Mutation SNP A A C TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr11:65650804A>C ENST00000528419.1 + 9 933 c.929A>C c.(928-930)gAg>gCg p.E310A CTSW_ENST00000307886.3_Missense_Mutation_p.E310A P56202 CATW_HUMAN cathepsin W 310 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) ATATGGGCAGAGACAGTCTCA 0.597000 34 57 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56395723 56395723 + Missense_Mutation SNP G G A TCGA-HT-A74J-01A-12D-A32B-08 TCGA-HT-A74J-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d03da9a-4470-4f2d-b91c-846d869faa35 ec1475ec-7774-4f79-9d19-86805702d592 g.chr17:56395723G>A ENST00000355701.3 - 14 2660 c.1790C>T c.(1789-1791)aCa>aTa p.T597I BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.T597I NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 597 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTCTTGGCTGTCCTTCGAGG 0.617000 3 43 0 0 1 0 0