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 FGFBP1 9982 broad.mit.edu 37 4 15938242 15938242 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr4:15938242C>T ENST00000382333.1 - 3 308 c.14G>A c.(13-15)aGc>aAc p.S5N FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 5 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 CAGGGTGAGGCTACAGATCTT 0.537000 26 42 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15813153 15813153 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr16:15813153C>T ENST00000338282.6 - 36 5201 c.5095G>A c.(5095-5097)Gct>Act p.A1699T MYH11_ENST00000576790.1_Missense_Mutation_p.A1699T|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1706T|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.A1699T|NDE1_ENST00000396354.1_Intron NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1699 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCCTCTCAGCGGCGGCGAGG 0.602000 T CBFB AML 3 27 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43274913 43274913 + Silent SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr21:43274913G>A ENST00000422911.1 - 5 512 c.411C>T c.(409-411)gaC>gaT p.D137D PRDM15_ENST00000269844.3_Silent_p.D466D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000538201.1_Silent_p.D100D|PRDM15_ENST00000398548.1_Silent_p.D137D P57071 PRD15_HUMAN PR domain containing 15 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CGGGGTGCCCGTCCTTCTGGA 0.622000 13 42 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90784327 90784327 + Missense_Mutation SNP C C G TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr15:90784327C>G ENST00000558017.1 + 4 607 c.187C>G c.(187-189)Ctc>Gtc p.L63V GDPGP1_ENST00000329600.6_Missense_Mutation_p.L63V NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 63 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity TGATGCTGCACTCTGCTCTGC 0.572000 38 117 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648831 169648831 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr6:169648831C>T ENST00000366787.3 - 4 539 c.290G>A c.(289-291)aGg>aAg p.R97K NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 97 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAGCGTGCCCCTGGACTTGCC 0.622000 21 81 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 33 0 0 1 0 0 FABP6 2172 broad.mit.edu 37 5 159656578 159656578 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr5:159656578G>A ENST00000393980.4 + 4 307 c.161G>A c.(160-162)gGc>gAc p.G54D FABP6_ENST00000402432.3_Missense_Mutation_p.G5D|FABP6_ENST00000393982.1_Missense_Mutation_p.G54D NM_001130958.1 NP_001124430.1 P51161 FABP6_HUMAN fatty acid binding protein 6, ileal 5 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity p.G54D(1)|p.G5D(1) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTTTCACCGGCAAGTTCGAG 0.537000 4 175 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914772 94914772 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr14:94914772C>T ENST00000334708.3 - 2 404 c.340G>A c.(340-342)Gac>Aac p.D114N RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 114 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TGGTGGATGTCGGCTTCAGGG 0.592000 4 175 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50346470 50346470 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr20:50346470C>T ENST00000338821.5 - 2 380 c.116G>A c.(115-117)cGc>cAc p.R39H ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H|ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 39 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCAGACAGTGCGGGGCCTGGC 0.587000 4 145 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472572 47472572 + Missense_Mutation SNP T T C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr12:47472572T>C ENST00000266581.4 - 2 680 c.214A>G c.(214-216)Aga>Gga p.R72G AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 72 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) AGGTCCAGTCTCTTAATCAGT 0.478000 22 80 0 0 1 0 0 PCDHGA3 0 broad.mit.edu 37 5 140725644 140725644 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr5:140725644G>A ENST00000253812.6 + 1 2044 c.2044G>A c.(2044-2046)Gcc>Acc p.A682T PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGCCCTCCGCCAAACCCAA 0.687000 4 123 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3499331 3499331 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr18:3499331C>T ENST00000315677.3 - 13 3381 c.2786G>A c.(2785-2787)cGg>cAg p.R929Q DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 929 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGAGCGCTCCCGGATCAGCGG 0.677000 3 3 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 132 0 0 1 0 0 PCDHB15 0 broad.mit.edu 37 5 140626622 140626622 + Silent SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr5:140626622G>A ENST00000231173.3 + 1 1476 c.1476G>A c.(1474-1476)ccG>ccA p.P492P NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 492 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGCTGCCGCCCCGGGACC 0.667000 59 157 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780585 94780585 + Missense_Mutation SNP T T C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr14:94780585T>C ENST00000341584.3 - 2 547 c.401A>G c.(400-402)gAt>gGt p.D134G NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 134 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAGGCTGCCATCAAGAAACAA 0.502000 11 61 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30616551 30616551 + Missense_Mutation SNP G G C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr16:30616551G>C ENST00000287461.3 - 3 874 c.537C>G c.(535-537)tgC>tgG p.C179W ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) CACAGTCTGGGCAAGGGTAAG 0.612000 21 90 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 38016073 38016073 + Missense_Mutation SNP C C G TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr9:38016073C>G ENST00000377707.3 - 2 1338 c.773G>C c.(772-774)aGc>aCc p.S258T SHB_ENST00000377700.4_Missense_Mutation_p.S258T|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 258 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TCCTGCTTTGCTCTTGAGATC 0.537000 34 121 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 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 23 42 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8379324 8379324 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr18:8379324G>A ENST00000332175.8 + 26 4770 c.3733G>A c.(3733-3735)Gct>Act p.A1245T PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1245 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CTACATCAATGCTGCCCTCAT 0.607000 26 41 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43403589 43403589 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr6:43403589G>A ENST00000244533.3 + 3 1939 c.1580G>A c.(1579-1581)cGg>cAg p.R527Q ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 570 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R527Q(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCTTGGACCGGATCCAGCTT 0.567000 21 76 0 0 1 0 0 FAM66D 0 broad.mit.edu 37 8 11986016 11986016 + RNA SNP C C A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr8:11986016C>A ENST00000434078.2 + 0 608 NR_027425.1 AACGTCTTGGCGGCAGGCGCC 0.478000 4 20 0.00024832 0.00024832 1 1 0 KIF16B 55614 broad.mit.edu 37 20 16359697 16359697 + Nonsense_Mutation SNP C C A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr20:16359697C>A ENST00000354981.2 - 19 3107 c.2950G>T c.(2950-2952)Gaa>Taa p.E984* KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984* NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 984 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.E984K(2)|p.E984*(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CTCACTTTTTCCTCCTGACGT 0.512000 61 110 2.14255e-21 2.24706e-21 1 1 0 SPEN 23013 broad.mit.edu 37 1 16262471 16262471 + Missense_Mutation SNP A A C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr1:16262471A>C ENST00000375759.3 + 11 9940 c.9736A>C c.(9736-9738)Acc>Ccc p.T3246P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3246 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ccccacccccacccctgcccc 0.662000 4 10 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14965518 14965518 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr3:14965518G>A ENST00000285046.5 + 17 4051 c.3941G>A c.(3940-3942)cGg>cAg p.R1314Q FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1314 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GTTACAGAGCGGCCTGTGAGC 0.537000 20 35 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312002 86312002 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr15:86312002C>T ENST00000337975.5 - 2 1314 c.1040G>A c.(1039-1041)gGc>gAc p.G347D KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 347 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 GGAGCCCCTGCCCCCCGTCAC 0.637000 3 37 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150482462 150482462 + Silent SNP C C A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr1:150482462C>A ENST00000369047.4 + 4 413 c.288C>A c.(286-288)ctC>ctA p.L96L ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000369049.4_Silent_p.L123L NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 96 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTGCCCAACTCCCTGCTGAAA 0.592000 28 87 1.16021e-09 1.18783e-09 1 1 0 DKC1 1736 broad.mit.edu 37 X 153994501 153994501 + Missense_Mutation SNP A A C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chrX:153994501A>C ENST00000369550.5 + 5 484 c.274A>C c.(274-276)Att>Ctt p.I92L NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 92 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GACAGGTTTCATTAATCTTGA 0.413000 Congenital Dyskeratosis 4 107 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3844416 3844416 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr17:3844416C>T ENST00000309890.7 - 14 2099 c.1949G>A c.(1948-1950)gGc>gAc p.G650D ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 650 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GTAGGCCTTGCCCGCCACGTC 0.687000 4 76 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52940220 52940220 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr12:52940220G>A ENST00000267119.5 - 7 1244 c.1175C>T c.(1174-1176)gCc>gTc p.A392V NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 392 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GTCCAGCTTGGCCCGGGCATC 0.622000 19 50 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44803600 44803600 + Nonsense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr20:44803600G>A ENST00000372262.3 - 11 2432 c.2032C>T c.(2032-2034)Cag>Tag p.Q678* CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678* NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 678 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCGGTGTCCTGCTCGCCGCCG 0.677000 13 33 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428846 10428846 + Missense_Mutation SNP G G C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr17:10428846G>C ENST00000245503.5 - 32 4843 c.4459C>G c.(4459-4461)Ctg>Gtg p.L1487V CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1487 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATCTTGAACAGCTCAGTGCCA 0.458000 17 61 0 0 1 0 0 ZFP69B 65243 broad.mit.edu 37 1 40929203 40929203 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr1:40929203C>T ENST00000411995.2 + 6 1922 c.1547C>T c.(1546-1548)tCa>tTa p.S516L ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L|ZFP69B_ENST00000484445.1_3'UTR NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B AGCTGTAGTTCATCCCTTATT 0.353000 17 66 0 0 1 0 0 AP3M1 26985 broad.mit.edu 37 10 75893895 75893895 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr10:75893895G>A ENST00000355264.4 - 4 784 c.473C>T c.(472-474)cCc>cTc p.P158L AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L NM_012095.4 NP_036227.1 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 158 protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 13 Prostate(51;0.0112) CTGCCCGGTGGGGAGTGTGTC 0.408000 10 54 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51041583 51041583 + Missense_Mutation SNP C C T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr22:51041583C>T ENST00000008876.5 + 1 22 c.22C>T c.(22-24)Cct>Tct p.P8S MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 422 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TTTCCCTTCTCCTAGCACCTG 0.617000 10 18 0 0 1 0 0 HERC5 51191 broad.mit.edu 37 4 89407330 89407330 + Missense_Mutation SNP T T C TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr4:89407330T>C ENST00000264350.3 + 14 1955 c.1802T>C c.(1801-1803)cTc>cCc p.L601P HERC5_ENST00000508159.1_Missense_Mutation_p.L239P NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 601 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTGCACCGTCTCAATTTTTTT 0.333000 4 93 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47095873 47095873 + Missense_Mutation SNP G G A TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr18:47095873G>A ENST00000261292.4 + 4 804 c.526G>A c.(526-528)Ggg>Agg p.G176R LIPG_ENST00000427224.2_Missense_Mutation_p.G176R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000577628.1_Missense_Mutation_p.G212R NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 176 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GCACGTGGCCGGGTATGCAGG 0.542000 13 39 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27059244 27059245 + Frame_Shift_Ins INS - - ATGA TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr1:27059244_27059245insATGA ENST00000324856.7 + 4 2252_2253 c.1881_1882insATGA c.(1879-1884)gatgaafs p.DE627fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.DE244fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.DE627fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 627 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.D627fs*2(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCAAGAAGATATGAACCTGAG 0.475 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 122 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 5 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183626 + RNA DEL TT TT - rs11296516 TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr16:81183625_81183626delTT ENST00000525539.1 - 0 4553 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttt 0.465 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576926 7576937 + Splice_Site DEL GCTAGGAAAGAG GCTAGGAAAGAG - rs34361146 byFrequency TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr17:7576926_7576937delGCTAGGAAAGAG ENST00000420246.2 - 9 1052 c.919_splice c.e9-1 p.307_splice TP53_ENST00000359597.4_Splice_Site_p.307_splice|TP53_ENST00000269305.4_Splice_Site_p.307_splice|TP53_ENST00000445888.2_Splice_Site_p.307_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site_p.307_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 307 Interaction with CARM1.|Interaction with HIPK1 (By similarity). A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> 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.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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) GTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAG 0.500 111 """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 55 --- --- --- --- CENPB 1059 broad.mit.edu 37 20 3766523 3766524 + Frame_Shift_Ins INS - - T TCGA-FG-A60L-01A-12D-A31L-08 TCGA-FG-A60L-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6 ef593f3e-ebd2-4723-83fa-f98618aa0194 g.chr20:3766523_3766524insT ENST00000379751.4 - 1 813_814 c.607_608insA c.(607-609)cctfs p.P203fs NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 203 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 GTCGGGCAGGAAGTCGTACCAT 0.708 51 101 --- --- --- ---