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 TREX1 11277 broad.mit.edu 37 3 48508560 48508560 + Nonsense_Mutation SNP C C G TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr3:48508560C>G uc003ctj.3 + 1 1928 c.671C>G c.(670-672)tCa>tGa p.S224* TREX1_uc010hjy.3_Nonsense_Mutation_p.S169*|TREX1_uc010hjz.3_Nonsense_Mutation_p.S169*|TREX1_uc003ctk.3_Nonsense_Mutation_p.S30*|TREX1_uc010hka.3_Nonsense_Mutation_p.S224* NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA. 224 DNA recombination|DNA replication|cell death|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGCAGCCCCTCAGAACACGGC 0.612000 3 99 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499700 18499700 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr12:18499700C>T uc010sib.2 + 9 1633 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S PIK3C2G_uc001rdt.3_Missense_Mutation_p.P519S|PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sic.2_Missense_Mutation_p.P297S NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 519 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CTATCTAAATCCCGGGCTTCC 0.448000 41 57 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443103 1443103 + Silent SNP G G C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:1443103G>C uc003jck.3 - 1 336 c.210C>G c.(208-210)ctC>ctG p.L70L NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 70 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGACGGACAGGAGAAAGTCGA 0.612000 4 121 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954066 34954066 + Missense_Mutation SNP T T C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:34954066T>C uc003jjb.3 + 11 1756 c.1529T>C c.(1528-1530)aTg>aCg p.M510T DNAJC21_uc003jjc.3_Missense_Mutation_p.M465T|DNAJC21_uc010iuu.1_Missense_Mutation_p.M362T NM_194283 NP_919259 Q5F1R6 DJC21_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA. 465 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ACCAAAGATATGAAAAAACCT 0.318000 4 127 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77973161 77973161 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr7:77973161C>T uc003ugx.3 - 8 1596 c.1342G>A c.(1342-1344)Gag>Aag p.E448K MAGI2_uc003ugy.3_Missense_Mutation_p.E448K|MAGI2_uc010ldx.1_Missense_Mutation_p.E57K|MAGI2_uc010ldy.1_Missense_Mutation_p.E57K|MAGI2_uc011kgr.1_Missense_Mutation_p.E280K|MAGI2_uc011kgs.1_Missense_Mutation_p.E285K NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 448 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCAGAAACTCATCAGGCTCG 0.473000 43 55 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56736373 56736373 + Missense_Mutation SNP A A T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr19:56736373A>T uc002qmr.3 - 3 739 c.43T>A c.(43-45)Tgc>Agc p.C15S ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmq.3_Missense_Mutation_p.C15S|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C15S NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 15 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GGTCTGTTGCAGGATTCTCCT 0.468000 8 99 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95748058 95748058 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:95748058C>T uc003kls.2 - 6 1085 c.846G>A c.(844-846)cgG>cgA p.R282R PCSK1_uc010jbi.2_Silent_p.R43R|PCSK1_uc021ybq.1_Silent_p.R235R NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 282 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGGGCTAGCCGGCCAGGCC 0.478000 4 127 0 0 1 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48254336 48254336 + Silent SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr19:48254336G>A uc002phm.2 + 3 594 c.570G>A c.(568-570)cgG>cgA p.R190R GLTSCR2_uc010elk.1_5'Flank NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA. 190 RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) CCGTAGAGCGGCCCTTCTACG 0.647000 11 16 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990617 990617 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr9:990617C>T uc003zgw.1 + 1 1069 c.1031C>T c.(1030-1032)gCc>gTc p.A344V NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. 344 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGGTTTTCTGCCGACTCTAGC 0.582000 4 158 0 0 1 0 0 SLC46A1 113235 broad.mit.edu 37 17 26733056 26733056 + Missense_Mutation SNP T T G TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr17:26733056T>G uc002hbf.2 - 0 175 c.77A>C c.(76-78)gAg>gCg p.E26A SLC46A1_uc021ttr.1_Missense_Mutation_p.E26A|SLC46A1_uc010wak.2_Missense_Mutation_p.E26A NM_080669 NP_542400 Q96NT5 PCFT_HUMAN Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA. 26 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GACCAGCGGCTCTACCGGGCC 0.716000 6 9 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 131008166 131008166 + Silent SNP T T C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:131008166T>C uc003kvs.1 - 13 2113 c.1971A>G c.(1969-1971)gaA>gaG p.E657E RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E629E|RAPGEF6_uc010jdm.1_Silent_p.E612E NM_133372 NP_588613 Q8TEU7 RPGF6_HUMAN Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA. 0 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CAGCATTTTCTTCTTGGCAGT 0.393000 11 323 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924858 70924858 + Silent SNP T T A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr14:70924858T>A uc001xmd.3 + 1 900 c.642T>A c.(640-642)gtT>gtA p.V214V ADAM21_uc021rvq.1_Silent_p.V214V NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 214 Peptidase M12B.|Poly-Val. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGCTAGTTGTTGTGGTGAACC 0.433000 71 79 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50674044 50674044 + Missense_Mutation SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr7:50674044G>A uc003tpi.2 - 10 1308 c.1262C>T c.(1261-1263)tCg>tTg p.S421L GRB10_uc003tph.3_Missense_Mutation_p.S363L|GRB10_uc003tpj.2_Missense_Mutation_p.S375L|GRB10_uc003tpk.2_Missense_Mutation_p.S421L|GRB10_uc010kzb.2_Missense_Mutation_p.S363L|GRB10_uc003tpl.2_Missense_Mutation_p.S415L|GRB10_uc003tpm.2_Missense_Mutation_p.S363L NM_005311 NP_005302 Q13322 GRB10_HUMAN Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA. 421 insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane SH3/SH2 adaptor activity|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CACTGGCGTCGAGAACGGGGA 0.527000 Russell-Silver syndrome 10 209 0 0 1 0 0 BATF 10538 broad.mit.edu 37 14 76012817 76012817 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr14:76012817C>T uc001xrr.3 + 2 423 c.181C>T c.(181-183)Ctg>Ttg p.L61L NM_006399 NP_006390 Q16520 BATF_HUMAN Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA. 61 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.028) GAGCGAAGACCTGGAGAAACA 0.597000 7 65 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96066243 96066243 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr10:96066243C>T uc001kjk.3 + 25 6316 c.5682C>T c.(5680-5682)gtC>gtT p.V1894V PLCE1_uc010qnx.2_Silent_p.V1878V|PLCE1_uc001kjm.3_Silent_p.V1586V|PLCE1_uc001kjp.3_Silent_p.V252V NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 1894 C2. Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCATTGAAGTCGACGTCCTGG 0.537000 29 183 0 0 1 0 0 CCL23 6368 broad.mit.edu 37 17 34340319 34340319 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr17:34340319C>T uc002hks.1 - 3 403 c.332G>A c.(331-333)tGt>tAt p.C111Y CCL23_uc002hkt.1_Missense_Mutation_p.C94Y NM_005064 NP_005055 P55773 CCL23_HUMAN Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8-1, mRNA. 94 G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) GGGGTTGGCACAGAAACGTCG 0.522000 20 24 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce 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 58 77 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643134 138643134 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:138643134C>T uc003ldw.3 + 2 433 c.30C>T c.(28-30)ctC>ctT p.L10L MATR3_uc003lds.3_Silent_p.L10L|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.L10L|MATR3_uc010jfb.3_Silent_p.L10L|MATR3_uc003ldx.3_Silent_p.L10L|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.L10L|MATR3_uc011czb.2_Intron NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 10 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGTCATCTCTCAGTAGGGACT 0.428000 8 193 0 0 1 0 0 PDK3 5165 broad.mit.edu 37 X 24483609 24483609 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chrX:24483609C>T uc004dbh.3 + 0 266 c.37C>T c.(37-39)Ccc>Tcc p.P13S PDK3_uc004dbg.3_Missense_Mutation_p.P13S NM_001142386 NP_001135858 Q15120 PDK3_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 13 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GCAGCCGGTGCCCAAGCAGAT 0.687000 8 16 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232375 1232375 + Missense_Mutation SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:1232375G>A uc003jby.2 + 1 325 c.202G>A c.(202-204)Ggg>Agg p.G68R NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 68 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGTCTTCGAGGGGATCCCCAT 0.687000 20 16 0 0 1 0 0