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 CABIN1 23523 broad.mit.edu 37 22 24445595 24445595 + Missense_Mutation SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr22:24445595G>A uc002zzi.1 + 6 696 c.569G>A c.(568-570)cGg>cAg p.R190Q CABIN1_uc021wnc.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R190Q|CABIN1_uc010guk.1_Missense_Mutation_p.R145Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R145Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 190 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.R190L(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAGGATTGCCGGTACAGCAAA 0.502000 4 168 0 0 1 0 0 C3orf71 646450 broad.mit.edu 37 3 48955844 48955844 + Missense_Mutation SNP C C A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr3:48955844C>A uc010hkk.1 - 0 975 c.739G>T c.(739-741)Gtt>Ttt p.V247F ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank NM_001123040 NP_001116512 Q8N7S6 CC071_HUMAN Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA. 247 integral to membrane breast(1)|endometrium(2)|lung(1)|urinary_tract(1) 5 GCGCGGCGAACGAGGCCTCGG 0.592000 5 119 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23792452 23792452 + Splice_Site SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr7:23792452G>A uc003sws.4 + 9 1200 c.1133_splice c.e9+1 p.R378_splice STK31_uc003swt.4_Splice_Site_p.R355_splice|STK31_uc011jze.2_Splice_Site_p.R378_splice|STK31_uc010kuq.3_Splice_Site_p.R355_splice NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 378 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGAAATGAGGTAGGTAAAAG 0.303000 3 46 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12962967 12962967 + Silent SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:12962967G>A uc002mvm.3 + 8 1043 c.915G>A c.(913-915)gcG>gcA p.A305A MAST1_uc021upp.1_Silent_p.A129A NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 305 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TGCTGGAGGCGGCCGAAGGAC 0.652000 7 170 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007535 93007535 + Silent SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr15:93007535T>C uc002bra.3 + 5 1203 c.1048T>C c.(1048-1050)Ttg>Ctg p.L350L ST8SIA2_uc002brb.3_Silent_p.L329L NM_006011 NP_006002 Q92186 SIA8B_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA. 350 N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TACCATGCCCTTGGAGTTTAA 0.577000 3 172 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37563979 37563979 + Nonsense_Mutation SNP T T A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:37563979T>A uc002hrv.4 - 16 4707 c.4495A>T c.(4495-4497)Aag>Tag p.K1499* MED1_uc010wee.2_Nonsense_Mutation_p.K1327*|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN Homo sapiens mediator complex subunit 1 (MED1), mRNA. 1499 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTTTGTGCTTCTTATGTTTC 0.438000 HNSCC(31;0.082) 4 35 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65459053 65459053 + Silent SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr15:65459053C>T uc002aom.3 - 3 501 c.429G>A c.(427-429)aaG>aaA p.K143K CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.K143K NM_006660 NP_006651 O76031 CLPX_HUMAN Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA. 143 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 TTATGCTTTTCTTTGAGTCTG 0.393000 3 110 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:9090831A>G uc002mkp.3 - 0 1188 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 100 0 0 1 0 0 COPB1 1315 broad.mit.edu 37 11 14520418 14520418 + Silent SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr11:14520418T>C uc001mli.2 - 1 364 c.57A>G c.(55-57)gaA>gaG p.E19E COPB1_uc001mlg.2_Silent_p.E19E|COPB1_uc001mlh.2_Silent_p.E19E|PSMA1_uc010rcp.1_Non-coding_Transcript NM_016451 NP_057535 P53618 COPB_HUMAN Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 1, mRNA. 19 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CAGATGGTGGTTCTGAATCCA 0.313000 28 52 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89912157 89912157 + Missense_Mutation SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr4:89912157T>C uc003hse.1 - 3 780 c.572A>G c.(571-573)aAt>aGt p.N191S FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Missense_Mutation_p.N5S NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 191 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AGTGGCGAGATTGTGAACATT 0.423000 5 141 0 0 1 0 0 SNRNP70 6625 broad.mit.edu 37 19 49589800 49589800 + Silent SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:49589800G>A uc002pmk.3 + 1 568 c.129G>A c.(127-129)ccG>ccA p.P43P SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript NM_003089 NP_003080 P08621 RU17_HUMAN Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA. 43 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex RNA binding|nucleotide binding|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 GCATTGCGCCGTACATTCGAG 0.532000 6 429 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 995059 995059 + Missense_Mutation SNP G G T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:995059G>T uc002fsd.3 - 3 487 c.377C>A c.(376-378)aCc>aAc p.T126N ABR_uc002fse.3_Missense_Mutation_p.T80N|ABR_uc002fsg.3_Missense_Mutation_p.T89N|ABR_uc002fsh.1_Missense_Mutation_p.T10N|ABR_uc010cjq.1_Missense_Mutation_p.T138N NM_021962 NP_001153218 Q12979 ABR_HUMAN Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA. 126 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGGCTGGGAGGTGGTGGCGGT 0.572000 19 203 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153129444 153129444 + Silent SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chrX:153129444G>A uc004fjb.3 - 24 3459 c.3351C>T c.(3349-3351)ttC>ttT p.F1117F L1CAM_uc004fjc.3_Silent_p.F1117F|L1CAM_uc010nuo.3_Silent_p.F1112F NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 1117 GF -> WLC (in Ref. 11). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCAGTGGCGAAGCCAGCAG 0.632000 3 51 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869749 151869749 + Missense_Mutation SNP T T A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chrX:151869749T>A uc004ffq.1 + 2 633 c.439T>A c.(439-441)Ttt>Att p.F147I MAGEA6_uc004ffr.1_Missense_Mutation_p.F147I|MAGEA6_uc022chf.1_Missense_Mutation_p.F147I NM_005363 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA. 147 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GCAGTACTTCTTTCCTGTGAT 0.527000 4 197 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761700 96761700 + Silent SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr4:96761700C>T uc003htr.4 + 0 462 c.399C>T c.(397-399)ctC>ctT p.L133L NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 133 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GATCCATTCTCGCAGAGCTGA 0.517000 10 91 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355399 34355399 + Missense_Mutation SNP C C A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr15:34355399C>A uc001zhk.1 + 2 1151 c.481C>A c.(481-483)Ctc>Atc p.L161I CHRM5_uc001zhl.1_Missense_Mutation_p.L161I|CHRM5_uc021sir.1_Missense_Mutation_p.L161I NM_012125 NP_036257 P08912 ACM5_HUMAN Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA. 161 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CTCCTTCATCCTCTGGGCCCC 0.547000 4 117 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634706 70634706 + Missense_Mutation SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr14:70634706G>A uc001xly.3 - 1 1188 c.434C>T c.(433-435)gCt>gTt p.A145V SLC8A3_uc001xlw.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlx.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlz.3_Missense_Mutation_p.A145V|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 145 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TATCTCAGGAGCAGAGGAACC 0.488000 4 74 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 55 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101829274 101829274 + Silent SNP A A G TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr9:101829274A>G uc004azb.1 + 39 3968 c.3762A>G c.(3760-3762)ttA>ttG p.L1254L NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 1254 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GAGCATTCTTATCTTCCCATT 0.463000 4 138 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10318635 10318635 + Missense_Mutation SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:10318635C>T uc002gmm.2 - 7 810 c.715G>A c.(715-717)Gtg>Atg p.V239M AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 239 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCATTCCTCACAGTTTTGGCA 0.478000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 60 85 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52945025 52945025 + Missense_Mutation SNP A A T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr4:52945025A>T uc003gzl.3 + 7 1423 c.1145A>T c.(1144-1146)cAt>cTt p.H382L SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H350L|SPATA18_uc003gzk.1_Missense_Mutation_p.H382L NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA. 382 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GTCATTTGTCATCTTGATCTA 0.383000 7 204 0 0 1 0 0 CD3E 916 broad.mit.edu 37 11 118183648 118183648 + Frame_Shift_Del DEL A A - TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr11:118183648delA uc010rya.2 + 5 675 c.419delA c.(418-420)cagfs p.Q140fs CD3E_uc001psq.4_Intron NM_000733 NP_000724 P07766 CD3E_HUMAN Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA. 0 G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) GGGCATTCTCAGTGATTTTCC 0.522 20 27 --- --- --- ---