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 KDM5B 10765 broad.mit.edu 37 1 202727567 202727567 + Silent SNP C C A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:202727567C>A ENST00000367265.3 - 9 2313 c.1149G>T c.(1147-1149)ggG>ggT p.G383G KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Silent_p.G419G NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 383 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CTGCCATTTCCCCAAAAGTAC 0.378000 11 21 0.00010058 0.000108962 1 1 0 ITPR3 3710 broad.mit.edu 37 6 33638466 33638466 + Silent SNP C C T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr6:33638466C>T ENST00000374316.5 + 21 3520 c.2460C>T c.(2458-2460)aaC>aaT p.N820N ITPR3_ENST00000605930.1_Silent_p.N820N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 820 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCAACCTCAACGCGTCCCGAG 0.587000 4 33 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76129450 76129450 + Missense_Mutation SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr5:76129450G>A ENST00000296677.4 + 2 1224 c.1018G>A c.(1018-1020)Gac>Aac p.D340N NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 340 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CAGCTGCATCGACCCCTTTGT 0.473000 30 332 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207288791 207288791 + Missense_Mutation SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:207288791G>A ENST00000367070.3 + 4 553 c.359G>A c.(358-360)cGt>cAt p.R120H NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 120 Sushi 2. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 GGAGAGTTACGTAATGGGCAA 0.363000 13 20 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188689 57188689 + Missense_Mutation SNP C C T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr7:57188689C>T ENST00000331162.4 - 5 703 c.433G>A c.(433-435)Gtt>Att p.V145I NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CATTGGTTAACTTCACTATAA 0.313000 42 72 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404020 20404020 + Silent SNP T T C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr14:20404020T>C ENST00000285600.4 + 1 254 c.195T>C c.(193-195)aaT>aaC p.N65N NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGCTCAGTAATCTTTCTTTCA 0.383000 6 299 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140960428 140960428 + Missense_Mutation SNP T T C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr5:140960428T>C ENST00000253811.6 - 8 847 c.707A>G c.(706-708)gAg>gGg p.E236G DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G O60610 DIAP1_HUMAN diaphanous-related formin 1 236 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTTCTGTCTCCAACATGGT 0.453000 11 20 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41007853 41007853 + Missense_Mutation SNP G G C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr19:41007853G>C ENST00000352632.3 + 8 896 c.810G>C c.(808-810)gaG>gaC p.E270D SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 270 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCCAGATGAGAAGTCCATCA 0.507000 45 95 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11546952 11546952 + Missense_Mutation SNP T T C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr19:11546952T>C ENST00000252455.2 + 2 350 c.14T>C c.(13-15)cTg>cCg p.L5P PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000589838.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 5 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 ctgttgccgctgctgctgctg 0.647000 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1944796 1944796 + Missense_Mutation SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:1944796G>A ENST00000381558.1 + 4 322 c.43G>A c.(43-45)Gaa>Aaa p.E15K TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000397301.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 15 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) GCAGTACGAAGAAGAAGGTAA 0.612000 14 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440628 179440628 + Missense_Mutation SNP C C T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr2:179440628C>T ENST00000589042.1 - 326 70455 c.70231G>A c.(70231-70233)Ggt>Agt p.G23411S TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21770S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21770 Fibronectin type-III 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAAATTTACCGGTATCATAT 0.448000 50 119 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40498485 40498485 + Missense_Mutation SNP C C T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr15:40498485C>T ENST00000287598.6 + 15 2030 c.1835C>T c.(1834-1836)gCc>gTc p.A612V BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 612 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TGTGACTTTGCCAGAGCAGCT 0.428000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 3 46 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115231190 115231190 + Missense_Mutation SNP T T G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:115231190T>G ENST00000369538.3 - 2 341 c.294A>C c.(292-294)gaA>gaC p.E98D AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D|AMPD1_ENST00000520113.2_Missense_Mutation_p.E102D NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 69 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) ACCTCCTGGCTTCTGTGGAGG 0.463000 8 84 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52538169 52538169 + Missense_Mutation SNP G G C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr19:52538169G>C ENST00000594154.1 - 5 975 c.763C>G c.(763-765)Cat>Gat p.H255D ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D O94892 ZN432_HUMAN zinc finger protein 432 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCTCTTTTATGAATTCTTTGA 0.378000 53 19 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50055824 50055824 + Missense_Mutation SNP C C T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr12:50055824C>T ENST00000335154.5 - 5 610 c.377G>A c.(376-378)cGg>cAg p.R126Q FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R126Q NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 126 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding p.R126Q(1) breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 CAGAAATTCCCGCACCCACCT 0.527000 10 20 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5719736 5719736 + Silent SNP C C G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:5719736C>G ENST00000379965.3 + 4 988 c.711C>G c.(709-711)ctC>ctG p.L237L TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 237 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TCTCAGATCTCCAGCGGAGGT 0.542000 3 15 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056459 120056459 + Missense_Mutation SNP A A G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:120056459A>G ENST00000235547.6 + 4 458 c.319A>G c.(319-321)Acc>Gcc p.T107A HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A|HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105A NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 105 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) ATGGACAGGTACCCAGCTCCT 0.507000 5 292 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 89 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr17:7577536T>C ENST00000420246.2 - 7 877 c.745A>G c.(745-747)Agg>Ggg p.R249G TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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) AGGATGGGCCTCCGGTTCATG 0.567000 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) 42 7 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df 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 34 31 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222715496 222715496 + Splice_Site SNP C C G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:222715496C>G ENST00000343410.6 - 3 1034 c.974_splice c.e3-1 p.V326_splice NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 326 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TCCAAGATGACCCTGGAAGAG 0.473000 4 44 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178417043 178417043 + Missense_Mutation SNP C C A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr2:178417043C>A ENST00000408939.2 - 1 699 c.449G>T c.(448-450)gGc>gTc p.G150V NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 150 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTCATTCTCGCCCCCACTTTC 0.587000 5 208 0.0293803 0.0293803 1 1 0 GRM3 0 broad.mit.edu 37 7 86415600 86415600 + Missense_Mutation SNP C C G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr7:86415600C>G ENST00000361669.2 + 3 1591 c.492C>G c.(490-492)ttC>ttG p.F164L AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|GRM3_ENST00000439827.1_Missense_Mutation_p.F164L NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 164 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCGGCTCTTCCAGATCCCTC 0.527000 41 86 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156828909 156828909 + Missense_Mutation SNP T T A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr4:156828909T>A ENST00000536354.2 + 4 332 c.268T>A c.(268-270)Ttg>Atg p.L90M NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 90 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CCTCTGGGAGTTGGATTCTGT 0.338000 8 57 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25194757 25194757 + Silent SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr7:25194757G>A ENST00000409280.1 - 6 776 c.468C>T c.(466-468)cgC>cgT p.R156R C7orf31_ENST00000283905.3_Silent_p.R156R Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 156 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 ACATGGCGCCGCGACAGATGT 0.502000 6 43 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153317725 153317725 + Missense_Mutation SNP G G T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:153317725G>T ENST00000368739.3 - 4 619 c.261C>A c.(259-261)gaC>gaA p.D87E PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D91E Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 91 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGACTGTCTGGTCGTGACACT 0.562000 15 29 0.000219431 0.000232866 1 1 0 CSDE1 7812 broad.mit.edu 37 1 115282476 115282476 + Silent SNP T T C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:115282476T>C ENST00000438362.2 - 3 552 c.174A>G c.(172-174)ggA>ggG p.G58G CSDE1_ENST00000358528.4_Silent_p.G12G|CSDE1_ENST00000534699.1_Silent_p.G12G|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000339438.6_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000530886.1_Intron NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 12 CSD 1. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCCATTATGTCCATTGTTGT 0.368000 13 314 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186057402 186057402 + Missense_Mutation SNP C C T TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:186057402C>T ENST00000271588.4 + 62 9800 c.9571C>T c.(9571-9573)Cgc>Tgc p.R3191C HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3191 Ig-like C2-type 30. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GAACCACAAGCGCATAGGTAA 0.418000 23 28 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185068 56185068 + Missense_Mutation SNP A A G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:56185068A>G ENST00000312253.1 - 1 640 c.641T>C c.(640-642)gTc>gCc p.V214A NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GGAGGTGAGGACAATGGAAGA 0.473000 23 31 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28906646 28906646 + Missense_Mutation SNP A A G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr10:28906646A>G ENST00000375664.3 + 13 2281 c.1672A>G c.(1672-1674)Act>Gct p.T558A WAC_ENST00000347934.4_Missense_Mutation_p.T500A|WAC_ENST00000375646.1_Missense_Mutation_p.T451A|WAC_ENST00000354911.4_Missense_Mutation_p.T603A Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 603 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 CGAAATTTGTACTGAATTAAA 0.303000 37 39 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58139287 58139287 + Missense_Mutation SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr3:58139287G>A ENST00000295956.4 + 39 6718 c.6553G>A c.(6553-6555)Gtg>Atg p.V2185M FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2185 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCAGTTCACCGTGGGGCCACT 0.667000 6 35 0 0 1 0 0 TRIM6-TRIM34 0 broad.mit.edu 37 11 5655971 5655971 + Missense_Mutation SNP G G C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:5655971G>C ENST00000354852.5 + 10 1865 c.1692G>C c.(1690-1692)aaG>aaC p.K564N TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.K210N|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 564 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AAGAAGAAAAGAAGACGCTGG 0.443000 3 48 0 0 1 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997411 59997411 + Missense_Mutation SNP A A G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:59997411A>G ENST00000528394.1 - 1 117 c.118T>C c.(118-120)Ttc>Ctc p.F40L MS4A4E_ENST00000526086.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000427611.2_Silent_p.S15S|MS4A4E_ENST00000425663.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000398986.2_Missense_Mutation_p.F40L|MS4A4E_ENST00000398984.2_Missense_Mutation_p.F40L membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 TTCCTCTTGAAGAACTTCTCT 0.443000 6 11 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515394 56515394 + Silent SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr19:56515394G>A ENST00000390649.3 + 2 375 c.375G>A c.(373-375)acG>acA p.T125T NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 125 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCTGGGCTACGTCCATTAGCA 0.502000 16 4 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7586808 7586808 + Missense_Mutation SNP G G A TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:7586808G>A ENST00000299492.4 + 3 477 c.89G>A c.(88-90)aGt>aAt p.S30N NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 30 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GCAGATCTTAGTGATGGTACT 0.527000 5 132 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163030247 163030247 + Missense_Mutation SNP G G C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr2:163030247G>C ENST00000188790.4 - 23 2227 c.2020C>G c.(2020-2022)Ctt>Gtt p.L674V FAP_ENST00000443424.1_Missense_Mutation_p.L649V NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 674 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TAGTGCTCAAGATTATCATCC 0.299000 6 134 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 7 231 5.18039e-06 5.7315e-06 1 1 0 DENND5A 23258 broad.mit.edu 37 11 9163597 9163597 + Missense_Mutation SNP G G C TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr11:9163597G>C ENST00000328194.3 - 22 3890 c.3570C>G c.(3568-3570)aaC>aaG p.N1190K DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 1190 RUN 2. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTGTATGCCAGTTTTCCTCAG 0.453000 9 70 0 0 1 0 0 GEN1 348654 broad.mit.edu 37 2 17954555 17954557 + In_Frame_Del DEL TTA TTA - TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr2:17954555_17954557delTTA ENST00000381254.2 + 10 1274_1276 c.1060_1062delTTA c.(1060-1062)del p.L355del SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_In_Frame_Del_p.L355del NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 355 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ACCTGATTTGTTATTGTTTCAGG 0.320 Homologous recombination 14 43 --- --- --- --- hsa-mir-6080 0 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 3 5 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43428981 43428982 + RNA INS - - G TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr19:43428981_43428982insG ENST00000406070.2 - 0 1340 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) tccagtctacagtggataataa 0.406 3 6 --- --- --- --- KRTAP10-7 386675 broad.mit.edu 37 21 46020656 46020670 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - rs36208679 TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chr21:46020656_46020670delCTGCTGCGCCCCCAG ENST00000380102.2 + 1 160_174 c.135_149delCTGCTGCGCCCCCAG c.(133-150)ccc>cc p.PCCAPS45del TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 45 30 X 5 AA repeats of C-C-X(3). keratin filament p.S50_P54delSCCAP(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 10 9 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937741 76937744 + Frame_Shift_Del DEL TTAC TTAC - TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chrX:76937741_76937744delTTAC ENST00000373344.5 - 9 3218_3221 c.3004_3007delGTAA c.(3004-3009)ttfs p.VI1002fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1002 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) TCCATTTTAATTACTTTTTTCTTA 0.333 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 71 21 --- --- --- --- ARMCX1 51309 broad.mit.edu 37 X 100808802 100808803 + Frame_Shift_Ins INS - - TC TCGA-TM-A84Q-01A-11D-A36O-08 TCGA-TM-A84Q-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9569f2bb-c8ba-4984-984d-9637e61ccd9e 27e25791-6c86-485b-9dc6-47ce27fde7df g.chrX:100808802_100808803insTC ENST00000372829.3 + 4 1260_1261 c.889_890insTC c.(889-891)ctgfs p.L297fs NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 297 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 TGACACCATGGTCTGTCGCTTG 0.426 8 34 --- --- --- ---