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 AOX1 316 broad.mit.edu 37 2 201467063 201467063 + Missense_Mutation SNP T T C TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr2:201467063T>C uc002uvx.3 + 5 594 c.493T>C c.(493-495)Tgt>Cgt p.C165R NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 165 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CAAGACTTTCTGTAAAGTAAG 0.448000 26 67 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57581169 57581169 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr12:57581169G>A uc001snd.3 + 41 7427 c.6961G>A c.(6961-6963)Gag>Aag p.E2321K NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 2321 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGGGGCCTTCGAGCGTGAGAC 0.607000 3 44 0 0 1 0 0 SGPL1 8879 broad.mit.edu 37 10 72633169 72633169 + Missense_Mutation SNP A A G rs139751906 byFrequency TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr10:72633169A>G uc001jrm.3 + 11 1343 c.1121A>G c.(1120-1122)tAt>tGt p.Y374C SGPL1_uc009xqk.3_Non-coding_Transcript NM_003901 NP_003892 O95470 SGPL1_HUMAN Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA. 374 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TACAGGAACTATCAGTTCTTC 0.502000 5 136 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113563207 113563207 + Missense_Mutation SNP C C G TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:113563207C>G uc022blv.1 + 14 2683 c.2549C>G c.(2548-2550)aCc>aGc p.T850S MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.T761S|MUSK_uc022blu.1_Missense_Mutation_p.T751S NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 850 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CCCAGTTTCACCAGTATTCAC 0.507000 8 26 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512212 248512212 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:248512212G>A uc010pzl.2 + 0 136 c.136G>A c.(136-138)Gtc>Atc p.V46I NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CATTGTGACCGTCACCACCTG 0.438000 11 131 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66207904 66207904 + Nonsense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr15:66207904G>A uc002apm.2 - 18 2518 c.2377C>T c.(2377-2379)Cag>Tag p.Q793* MEGF11_uc002apl.2_Nonsense_Mutation_p.Q718*|MEGF11_uc002apn.1_Nonsense_Mutation_p.Q793* NM_032445 NP_115821 A6BM72 MEG11_HUMAN Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA. 793 EGF-like 14. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CATAGCTGCTGACACCCATAG 0.537000 5 24 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130279165 130279165 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:130279165G>A uc004brh.3 - 7 1146 c.944C>T c.(943-945)tCc>tTc p.S315F FAM129B_uc004bri.3_Missense_Mutation_p.S302F|FAM129B_uc004brj.4_Missense_Mutation_p.S315F NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA. 315 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 GTGCTCCTTGGAGGTGATAAT 0.597000 78 286 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91733329 91733329 + Missense_Mutation SNP T T C TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr1:91733329T>C uc001doa.4 - 34 3955 c.3856A>G c.(3856-3858)Act>Gct p.T1286A HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.T965A|HFM1_uc001dob.4_Missense_Mutation_p.T474A|HFM1_uc010osv.1_Missense_Mutation_p.T970A NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 1286 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.S1285L(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCAGTATCAGTTGAAAAGCTA 0.303000 3 36 0 0 1 0 0 BECN1 8678 broad.mit.edu 37 17 40967972 40967972 + Missense_Mutation SNP C C A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:40967972C>A uc002ibo.3 - 7 919 c.784G>T c.(784-786)Gat>Tat p.D262Y BECN1_uc010whb.1_Missense_Mutation_p.D175Y|BECN1_uc010whc.1_Missense_Mutation_p.D186Y|BECN1_uc002ibn.2_Missense_Mutation_p.D262Y NM_003766 NP_003757 Q14457 BECN1_HUMAN Homo sapiens beclin 1, autophagy related (BECN1), mRNA. 262 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TTCAGCTTATCCAGCTGCGTC 0.458000 8 168 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10518462 10518462 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr11:10518462G>A uc001min.1 + 9 1906 c.1561G>A c.(1561-1563)Gag>Aag p.E521K AMPD3_uc010rbz.1_Missense_Mutation_p.E353K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E512K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E519K|AMPD3_uc009yfy.2_Missense_Mutation_p.E512K NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 512 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AGATCATCGAGAGCTTCACCT 0.512000 7 159 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52616490 52616490 + Missense_Mutation SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr6:52616490C>T uc003pay.3 - 5 581 c.431G>A c.(430-432)gGa>gAa p.G144E NM_000846 NP_000837 P09210 GSTA2_HUMAN Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA. 144 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.G144R(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GTAGTCTTGTCCGTGGCTCTT 0.537000 23 115 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4164528 4164528 + Missense_Mutation SNP A A C TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr16:4164528A>C uc002cvx.3 - 1 1455 c.916T>G c.(916-918)Tcc>Gcc p.S306A NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 306 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GTGCTCCTGGACCTCACCTGG 0.612000 14 84 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96069101 96069101 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr9:96069101G>A uc004ati.1 + 26 6368 c.6368G>A c.(6367-6369)aGt>aAt p.S2123N WNK2_uc011lud.1_Missense_Mutation_p.S2086N|WNK2_uc004atj.3_Missense_Mutation_p.S2086N|WNK2_uc004atk.3_Intron NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 2123 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity p.V2122A(1) breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GAACACAGCAGTAGTAATTAT 0.567000 7 200 0 0 1 0 0 GPR173 54328 broad.mit.edu 37 X 53106066 53106066 + Missense_Mutation SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chrX:53106066C>T uc004dru.3 + 1 521 c.263C>T c.(262-264)tCa>tTa p.S88L GPR173_uc022bxc.1_Missense_Mutation_p.S88L NM_018969 NP_061842 Q9NS66 GP173_HUMAN Homo sapiens G protein-coupled receptor 173 (GPR173), mRNA. 88 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 CACGGCTCTTCATGGACCTTC 0.577000 4 74 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666455 20666455 + Missense_Mutation SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr14:20666455C>T uc010tlb.2 + 0 961 c.961C>T c.(961-963)Cca>Tca p.P321S NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P321Q(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) tgttgttaccccactgcttaa 0.398000 35 102 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61759173 61759173 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:61759173G>A uc002jbe.3 + 8 709 c.643G>A c.(643-645)Gag>Aag p.E215K MAP3K3_uc002jbf.3_Missense_Mutation_p.E215K|MAP3K3_uc002jbg.3_Missense_Mutation_p.E184K|MAP3K3_uc002jbh.3_Missense_Mutation_p.E215K|MAP3K3_uc010wpo.2_Missense_Mutation_p.E99K|MAP3K3_uc010wpp.2_Missense_Mutation_p.E184K NM_203351 NP_976226 Q99759 M3K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 1, mRNA. 184 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.L214L(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTATGTTCCTGAGCGGCAGCA 0.602000 14 110 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95556981 95556981 + Silent SNP C C T TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr10:95556981C>T uc001kjc.4 + 7 1431 c.1095C>T c.(1093-1095)aaC>aaT p.N365N LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Silent_p.N317N|LGI1_uc009xui.3_Non-coding_Transcript NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 365 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GGAACGGAAACGGATTCTACT 0.408000 29 60 0 0 1 0 0 RNF5P1 286140 broad.mit.edu 37 8 38458252 38458252 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr8:38458252G>A uc003xly.3 - 0 524 c.467C>T c.(466-468)cCg>cTg p.P156L Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA. GCTGGAGGCCGGGTGACCCTG 0.532000 9 159 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73501926 73501926 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr17:73501926G>A uc002joc.3 - 8 1361 c.811C>T c.(811-813)Cgg>Tgg p.R271W CASKIN2_uc010wsc.2_Missense_Mutation_p.R189W|CASKIN2_uc002jod.3_Missense_Mutation_p.R271W NM_020753 NP_001136115 Q8WXE0 CSKI2_HUMAN Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA. 271 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGATTTCCCGGCTGGCCTGG 0.622000 3 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf 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 20 67 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38810844 38810844 + Missense_Mutation SNP A A G TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr19:38810844A>G uc002oic.3 + 0 361 c.254A>G c.(253-255)aAc>aGc p.N85S NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA. 85 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) GGGTCCGCCAACGCCTCGGAC 0.706000 4 29 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704157 131704157 + Missense_Mutation SNP G G A TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr2:131704157G>A uc010fmw.1 + 2 2668 c.2314G>A c.(2314-2316)Gct>Act p.A772T ARHGEF4_uc002tsa.1_Missense_Mutation_p.A126T|ARHGEF4_uc002tsb.1_Missense_Mutation_p.A126T|ARHGEF4_uc010fmx.1_Missense_Mutation_p.A126T|ARHGEF4_uc002trz.1_Missense_Mutation_p.A772T Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 126 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CTCCCAGAGTGCTCCAACGGG 0.532000 6 120 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49001922 49001922 + Frame_Shift_Del DEL A A - TCGA-BJ-A18Z-01A-21D-A13W-08 TCGA-BJ-A18Z-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 776cb4b1-8efd-4ea2-b53f-9dff7dd94b10 ba9479a1-929f-4e4e-8bf5-e23cb280dfcf g.chr19:49001922delA uc002pjk.3 - 11 2491 c.2491delT c.(2491-2493)tccfs p.S831fs NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CCCTCTGGGGAAAAAGGGGTC 0.766 2 4 --- --- --- ---