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 CD46 4179 broad.mit.edu 37 1 207930382 207930382 + Missense_Mutation SNP T T C TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr1:207930382T>C ENST00000358170.2 + 2 277 c.121T>C c.(121-123)Ttt>Ctt p.F41L CD46_ENST00000367041.1_Missense_Mutation_p.F41L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.F41L|CD46_ENST00000322918.5_Missense_Mutation_p.F41L|CD46_ENST00000367047.1_Intron|CD46_ENST00000441839.2_Missense_Mutation_p.F41L|CD46_ENST00000322875.4_Missense_Mutation_p.F41L|CD46_ENST00000357714.1_Missense_Mutation_p.F41L|CD46_ENST00000354848.1_Missense_Mutation_p.F41L|CD46_ENST00000360212.2_Missense_Mutation_p.F41L|CD46_ENST00000367042.1_Missense_Mutation_p.F41L|CD46_ENST00000361067.1_Missense_Mutation_p.F41L NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 41 Sushi 1. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 GCCACCAACATTTGAAGCTAT 0.413000 28 39 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108383673 108383673 + Missense_Mutation SNP G G A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr11:108383673G>A ENST00000265843.4 - 6 2671 c.2561C>T c.(2560-2562)aCt>aTt p.T854I EXPH5_ENST00000443411.1_Missense_Mutation_p.T666I|EXPH5_ENST00000428840.1_Missense_Mutation_p.T778I|EXPH5_ENST00000525344.1_Missense_Mutation_p.T847I NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 854 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTGAGTATCAGTCAGTGCAGA 0.403000 41 120 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1634358 1634358 + Missense_Mutation SNP G G A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr16:1634358G>A ENST00000426508.2 - 11 1582 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 407 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GACATGGCCCGCTCGCTGAGG 0.587000 3 32 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48390284 48390284 + Missense_Mutation SNP T T C TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr7:48390284T>C ENST00000435803.1 + 30 10273 c.10249T>C c.(10249-10251)Ttc>Ctc p.F3417L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3417 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CGCTGGACGCTTCCGTTTCTT 0.522000 42 70 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142630466 142630466 + Missense_Mutation SNP G G T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr7:142630466G>T ENST00000265310.1 - 1 439 c.91C>A c.(91-93)Cag>Aag p.Q31K TRPV5_ENST00000442623.1_Missense_Mutation_p.Q31K NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 31 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.Q31K(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TCCAGGTGCTGGTCCCAGTCT 0.567000 4 97 1.23904e-05 1.32754e-05 1 1 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T rs121912660 TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr17:7577099C>T ENST00000420246.2 - 8 971 c.839G>A c.(838-840)aGa>aAa p.R280K TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 18 25 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204306 9204306 + Missense_Mutation SNP C C T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr19:9204306C>T ENST00000429566.3 + 1 452 c.386C>T c.(385-387)cCa>cTa p.P129L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ATCTGCCACCCATTGCACTAC 0.552000 26 55 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1557307 1557307 + Silent SNP C C T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr17:1557307C>T ENST00000572621.1 - 37 6256 c.5991G>A c.(5989-5991)gtG>gtA p.V1997V PRPF8_ENST00000304992.6_Silent_p.V1997V Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1997 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATGCCACGTTCACACTGTGGG 0.517000 42 188 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47688737 47688737 + Missense_Mutation SNP T T G TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr17:47688737T>G ENST00000393331.3 - 8 1033 c.563A>C c.(562-564)gAt>gCt p.D188A SPOP_ENST00000347630.2_Missense_Mutation_p.D188A|SPOP_ENST00000503676.1_Missense_Mutation_p.D188A|SPOP_ENST00000393328.2_Missense_Mutation_p.D188A|SPOP_ENST00000504102.1_Missense_Mutation_p.D188A NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 188 BTB.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TCCTAACTCATCTGCCAGCCG 0.502000 Prostate(2;0.17) 102 148 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4842846 4842846 + Silent SNP C C T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr11:4842846C>T ENST00000322110.5 + 1 296 c.231C>T c.(229-231)ctC>ctT p.L77L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTATTTCCTCTCTATGCTTT 0.458000 35 159 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189927953 189927953 + Missense_Mutation SNP A A G TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr2:189927953A>G ENST00000374866.3 - 27 2088 c.1814T>C c.(1813-1815)aTa>aCa p.I605T NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 605 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCTGATTCCTATGGAGCCTGG 0.512000 48 75 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620440 144620440 + Missense_Mutation SNP G G A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr8:144620440G>A ENST00000262577.5 - 2 1128 c.1097C>T c.(1096-1098)aCg>aTg p.T366M NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 366 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CTTGGAGGACGTGGCTGGCTT 0.627000 4 130 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 34 63 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 39 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249558 71249558 + Missense_Mutation SNP T T A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr11:71249558T>A ENST00000398534.3 + 1 488 c.457T>A c.(457-459)Tgc>Agc p.C153S NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 153 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TAAGCCCTGCTGCTGCTCTTC 0.602000 9 482 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119909950 119909950 + Missense_Mutation SNP T T C TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr12:119909950T>C ENST00000327554.2 + 3 787 c.322T>C c.(322-324)Tat>Cat p.Y108H RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 108 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AGAAATCCACTATGGGGACAC 0.448000 19 272 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117019898 117019898 + Missense_Mutation SNP G G C TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr6:117019898G>C ENST00000368564.1 + 5 520 c.372G>C c.(370-372)caG>caC p.Q124H KPNA5_ENST00000356348.1_Missense_Mutation_p.Q124H O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 121 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) AAGTTATACAGAAACCAGGAG 0.299000 4 19 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122758005 122758005 + Missense_Mutation SNP C C T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chrX:122758005C>T ENST00000245838.8 - 27 3255 c.3224G>A c.(3223-3225)cGg>cAg p.R1075Q THOC2_ENST00000355725.4_Missense_Mutation_p.R1075Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R960Q NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1075 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TCCAGTTGCCCGTAATATGGT 0.328000 27 4 0 0 1 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291161 1291161 + Silent SNP C C T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr16:1291161C>T ENST00000461509.2 + 2 284 c.90C>T c.(88-90)ggC>ggT p.G30G TPSAB1_ENST00000338844.3_Silent_p.G23G P20231 TRYB2_HUMAN tryptase alpha/beta 1 23 proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) CAGCCCCAGGCCAGGCCCTGC 0.716000 4 44 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107821211 107821211 + Silent SNP A A T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chrX:107821211A>T ENST00000328300.6 + 11 883 c.639A>T c.(637-639)ggA>ggT p.G213G COL4A5_ENST00000361603.2_Silent_p.G213G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 213 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GACTTCCAGGACCTAAGGTAA 0.328000 Alport syndrome with Diffuse Leiomyomatosis 18 1 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr20:43837052C>A ENST00000372781.3 + 2 1171 c.1114C>A c.(1114-1116)Cgc>Agc p.R372S SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418000 3 52 0.115264 0.119239 1 1 0 DOCK8 81704 broad.mit.edu 37 9 371468 371468 + Missense_Mutation SNP G G A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr9:371468G>A ENST00000432829.2 + 17 2021 c.1705G>A c.(1705-1707)Gct>Act p.A569T DOCK8_ENST00000453981.1_Missense_Mutation_p.A637T|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Missense_Mutation_p.A104T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A569T NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 637 DHR-1. 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) TAAGCTCCCCGCTAAGCTCAC 0.418000 51 67 0 0 1 0 0 CEP44 80817 broad.mit.edu 37 4 175220324 175220324 + Missense_Mutation SNP C C T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr4:175220324C>T ENST00000503780.1 + 3 466 c.52C>T c.(52-54)Cgc>Tgc p.R18C CEP44_ENST00000457424.2_Missense_Mutation_p.R18C|CEP44_ENST00000426172.1_Missense_Mutation_p.R18C|CEP44_ENST00000296519.4_Missense_Mutation_p.R18C NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 18 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 ACAGGTGCTCCGCTTGCTAAA 0.358000 39 39 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26458908 26458908 + Missense_Mutation SNP T T C TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr6:26458908T>C ENST00000429381.1 + 2 256 c.44T>C c.(43-45)cTc>cCc p.L15P BTN2A1_ENST00000312541.5_Missense_Mutation_p.L15P|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L15P Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 15 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CCAGCCTCCCTCCTCCTCCTC 0.582000 5 183 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662186 227662186 + Silent SNP G G A TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr2:227662186G>A ENST00000305123.4 - 1 2289 c.1269C>T c.(1267-1269)ggC>ggT p.G423G NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 423 Ser-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) AGATGAAACCGCCATCGCTGG 0.607000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 148 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553131 106553131 + Missense_Mutation SNP G G T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr6:106553131G>T ENST00000369096.4 + 5 1330 c.1096G>T c.(1096-1098)Ggc>Tgc p.G366C PRDM1_ENST00000369091.2_Missense_Mutation_p.G330C|PRDM1_ENST00000369089.3_Missense_Mutation_p.G232C NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 366 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TGTGGGCCCCGGCTCTCAAGA 0.647000 """D, N, Mis, F, S""" DLBCL 3 56 1 1 1 1 0 FAHD1 81889 broad.mit.edu 37 16 1877307 1877307 + Missense_Mutation SNP A A T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr16:1877307A>T ENST00000382666.4 + 1 340 c.77A>T c.(76-78)aAc>aTc p.N26I FAHD1_ENST00000382668.4_Missense_Mutation_p.N26I|FAHD1_ENST00000427358.2_Missense_Mutation_p.N26I NM_001018104.2 NP_001018114.1 Q6P587 FAHD1_HUMAN fumarylacetoacetate hydrolase domain containing 1 26 mitochondrion hydrolase activity|metal ion binding|protein binding NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1) 6 GTGGGGAGGAACTACGCGGAC 0.642000 4 102 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51624506 51624508 + In_Frame_Del DEL GAG GAG - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr3:51624506_51624508delGAG ENST00000409535.1 + 2 195_197 c.70_72delGAG c.(70-72)del p.E30del NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 30 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) ggatgcggaagaggaggaggagg 0.586 2 4 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37044565 37044565 + Frame_Shift_Del DEL G G - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr5:37044565delG ENST00000282516.8 + 35 6724 c.6225delG c.(6223-6225)aafs p.K2075fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2075fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2075 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATCTAATGAAGCTCATCATCA 0.328 48 68 --- --- --- --- MBL2 4153 broad.mit.edu 37 10 54527961 54527961 + Frame_Shift_Del DEL T T - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr10:54527961delT ENST00000373968.3 - 4 747 c.683delA c.(682-684)atfs p.N228fs NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 228 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CCACTGGCCATTTTTCAGTAG 0.483 7 579 --- --- --- --- RP11-64D24.2 0 broad.mit.edu 37 11 114128400 114128401 + RNA DEL AC AC - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr11:114128400_114128401delAC ENST00000544925.1 - 0 56 acacacacagacacacacacac 0.609 3 4 --- --- --- --- RP11-579D7.4 0 broad.mit.edu 37 12 49183367 49183367 + RNA DEL G G - rs10711161 TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr12:49183367delG ENST00000549864.1 + 0 9 ccctgccccagccccagcccc 0.657 4 4 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 128 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053824 90053824 + RNA DEL G G - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr16:90053824delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.622 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578474 7578475 + Frame_Shift_Ins INS - - GG rs137852790 TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr17:7578474_7578475insGG ENST00000420246.2 - 5 587_588 c.455_456insCC c.(454-456)cccfs p.P152fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P152fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (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.P152L(66)|p.P153fs*28(9)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(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) GGGTGCCGGGCGGGGGTGTGGA 0.614 111 """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) 44 89 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18024582 18024582 + Frame_Shift_Del DEL C C - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr17:18024582delC ENST00000205890.5 + 2 2806 c.2468delC c.(2467-2469)tcfs p.S823fs NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 823 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTGCAGGAGTCCCCAGCCCCA 0.801 2 4 --- --- --- --- CABLES1 91768 broad.mit.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chr18:20716015_20716023delGGCGCCGGC ENST00000256925.7 + 1 289_297 c.289_297delGGCGCCGGC c.(289-297)del p.GAG97del CABLES1_ENST00000400473.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 97 Ala-rich.|Interacts with TDRD7 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) ggccaagccgggcgccggcggcgcctgcg 0.785 5 1 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855018 76855019 + Frame_Shift_Ins INS - - T TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx b92a3aa1-9c8f-428d-bee4-7e91682da52a 39f82bc3-4c0e-4247-a89e-a5eea762150a g.chrX:76855018_76855019insT ENST00000373344.5 - 25 6031_6032 c.5817_5818insA c.(5815-5820)aaatagfs p.*1940fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*1902fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1940 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) 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) GAGCTACTATCTTTTTTCCCCT 0.356 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 204 90 --- --- --- ---