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 SUFU 51684 broad.mit.edu 37 10 104353455 104353455 + Silent SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr10:104353455G>A uc001kvy.2 + 4 851 c.660G>A c.(658-660)ctG>ctA p.L220L SUFU_uc001kvw.2_Silent_p.L220L|SUFU_uc001kvx.3_Silent_p.L220L|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 220 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) AGGGCATCCTGGAGCTGCTGC 0.612000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 3 28 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55423572 55423572 + Missense_Mutation SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr19:55423572C>T uc002qib.2 + 5 757 c.719C>T c.(718-720)aCg>aTg p.T240M NCR1_uc002qic.2_Missense_Mutation_p.T239M|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Missense_Mutation_p.T145M|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Missense_Mutation_p.T133M NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 240 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) ACCACAGAGACGGGACTCCAG 0.512000 34 46 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687711 27687711 + Missense_Mutation SNP C C A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr10:27687711C>A uc001itu.2 - 3 1934 c.1816G>T c.(1816-1818)Gtc>Ttc p.V606F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 606 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TATATAAAGACTACAAAATAC 0.378000 19 38 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41073950 41073950 + Silent SNP A A G TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chrX:41073950A>G uc004dfb.3 + 33 5952 c.5319A>G c.(5317-5319)aaA>aaG p.K1773K USP9X_uc004dfc.3_Silent_p.K1773K NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1773 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATTGTGAAAAATGCAATAAAA 0.323000 19 68 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 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 19 37 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430491 135430491 + Silent SNP A A C TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chrX:135430491A>C uc004ezu.1 + 5 4917 c.4626A>C c.(4624-4626)acA>acC p.T1542T GPR112_uc010nsb.1_Silent_p.T1337T|GPR112_uc010nsc.1_Silent_p.T1309T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1542 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCTAAAACAATGCATCCAG 0.413000 5 122 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 637797 637797 + Missense_Mutation SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr6:637797G>A uc003mtd.3 - 1 156 c.22C>T c.(22-24)Ccc>Tcc p.P8S EXOC2_uc003mte.3_Missense_Mutation_p.P8S|EXOC2_uc011dho.2_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Homo sapiens exocyst complex component 2 (EXOC2), mRNA. 8 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTCACAAGGGGGGGTTGTCGT 0.473000 49 51 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111706098 111706098 + Splice_Site SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr9:111706098T>A uc004bdo.1 - 17 1984 c.1942_splice c.e17-1 p.L648_splice CTNNAL1_uc010mts.1_Splice_Site_p.L300_splice|CTNNAL1_uc004bdp.1_Splice_Site_p.L648_splice NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA. 648 Rho protein signal transduction|cell adhesion actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) GTCTTTCAGCTGAAATGTAAT 0.358000 14 47 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231113619 231113619 + Silent SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr2:231113619T>A uc002vql.3 + 8 1027 c.912T>A c.(910-912)acT>acA p.T304T SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.T304T|SP140_uc002vqn.3_Silent_p.T251T|SP140_uc002vqm.3_Silent_p.T278T|SP140_uc010fxl.3_Silent_p.T304T NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 304 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATCTAAAAACTCCCCAAGTCA 0.423000 24 27 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655862 48655862 + Silent SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr17:48655862C>T uc002irk.1 + 8 2610 c.2238C>T c.(2236-2238)ggC>ggT p.G746G CACNA1G_uc002iri.1_Silent_p.G746G|CACNA1G_uc002irj.1_Silent_p.G746G|CACNA1G_uc002irl.1_Silent_p.G746G|CACNA1G_uc002irm.1_Silent_p.G746G|CACNA1G_uc002irn.1_Silent_p.G746G|CACNA1G_uc002iro.1_Silent_p.G746G|CACNA1G_uc002irp.1_Silent_p.G746G|CACNA1G_uc002irq.1_Silent_p.G746G|CACNA1G_uc002irr.1_Silent_p.G746G|CACNA1G_uc002irs.1_Silent_p.G746G|CACNA1G_uc002irt.1_Silent_p.G746G|CACNA1G_uc002iru.1_Silent_p.G746G|CACNA1G_uc002irv.1_Silent_p.G746G|CACNA1G_uc002irw.1_Silent_p.G746G|CACNA1G_uc002irx.1_Silent_p.G659G|CACNA1G_uc002iry.1_Silent_p.G659G|CACNA1G_uc002isg.1_Silent_p.G659G|CACNA1G_uc002ish.1_Silent_p.G659G|CACNA1G_uc002isi.1_Silent_p.G659G|CACNA1G_uc002irz.1_Silent_p.G659G|CACNA1G_uc002isa.1_Silent_p.G659G|CACNA1G_uc002isd.1_Silent_p.G659G|CACNA1G_uc002isb.1_Silent_p.G659G|CACNA1G_uc002isc.1_Silent_p.G659G|CACNA1G_uc002ise.1_Silent_p.G659G|CACNA1G_uc002isf.1_Silent_p.G659G NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 746 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGTACTTTGGCCGGGGAATCA 0.582000 3 45 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104353455 104353455 + Silent SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr10:104353455G>A uc001kvy.2 + 4 851 c.660G>A c.(658-660)ctG>ctA p.L220L SUFU_uc001kvw.2_Silent_p.L220L|SUFU_uc001kvx.3_Silent_p.L220L|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 220 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) AGGGCATCCTGGAGCTGCTGC 0.612000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 3 28 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55423572 55423572 + Missense_Mutation SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr19:55423572C>T uc002qib.2 + 5 757 c.719C>T c.(718-720)aCg>aTg p.T240M NCR1_uc002qic.2_Missense_Mutation_p.T239M|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Missense_Mutation_p.T145M|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Missense_Mutation_p.T133M NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 240 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) ACCACAGAGACGGGACTCCAG 0.512000 34 46 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687711 27687711 + Missense_Mutation SNP C C A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr10:27687711C>A uc001itu.2 - 3 1934 c.1816G>T c.(1816-1818)Gtc>Ttc p.V606F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 606 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TATATAAAGACTACAAAATAC 0.378000 19 38 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41073950 41073950 + Silent SNP A A G TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chrX:41073950A>G uc004dfb.3 + 33 5952 c.5319A>G c.(5317-5319)aaA>aaG p.K1773K USP9X_uc004dfc.3_Silent_p.K1773K NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1773 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATTGTGAAAAATGCAATAAAA 0.323000 19 68 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 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 19 37 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430491 135430491 + Silent SNP A A C TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chrX:135430491A>C uc004ezu.1 + 5 4917 c.4626A>C c.(4624-4626)acA>acC p.T1542T GPR112_uc010nsb.1_Silent_p.T1337T|GPR112_uc010nsc.1_Silent_p.T1309T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1542 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCTAAAACAATGCATCCAG 0.413000 5 122 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 637797 637797 + Missense_Mutation SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr6:637797G>A uc003mtd.3 - 1 156 c.22C>T c.(22-24)Ccc>Tcc p.P8S EXOC2_uc003mte.3_Missense_Mutation_p.P8S|EXOC2_uc011dho.2_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Homo sapiens exocyst complex component 2 (EXOC2), mRNA. 8 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTCACAAGGGGGGGTTGTCGT 0.473000 49 51 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111706098 111706098 + Splice_Site SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr9:111706098T>A uc004bdo.1 - 17 1984 c.1942_splice c.e17-1 p.L648_splice CTNNAL1_uc010mts.1_Splice_Site_p.L300_splice|CTNNAL1_uc004bdp.1_Splice_Site_p.L648_splice NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA. 648 Rho protein signal transduction|cell adhesion actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) GTCTTTCAGCTGAAATGTAAT 0.358000 14 47 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231113619 231113619 + Silent SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr2:231113619T>A uc002vql.3 + 8 1027 c.912T>A c.(910-912)acT>acA p.T304T SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.T304T|SP140_uc002vqn.3_Silent_p.T251T|SP140_uc002vqm.3_Silent_p.T278T|SP140_uc010fxl.3_Silent_p.T304T NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 304 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATCTAAAAACTCCCCAAGTCA 0.423000 24 27 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655862 48655862 + Silent SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr17:48655862C>T uc002irk.1 + 8 2610 c.2238C>T c.(2236-2238)ggC>ggT p.G746G CACNA1G_uc002iri.1_Silent_p.G746G|CACNA1G_uc002irj.1_Silent_p.G746G|CACNA1G_uc002irl.1_Silent_p.G746G|CACNA1G_uc002irm.1_Silent_p.G746G|CACNA1G_uc002irn.1_Silent_p.G746G|CACNA1G_uc002iro.1_Silent_p.G746G|CACNA1G_uc002irp.1_Silent_p.G746G|CACNA1G_uc002irq.1_Silent_p.G746G|CACNA1G_uc002irr.1_Silent_p.G746G|CACNA1G_uc002irs.1_Silent_p.G746G|CACNA1G_uc002irt.1_Silent_p.G746G|CACNA1G_uc002iru.1_Silent_p.G746G|CACNA1G_uc002irv.1_Silent_p.G746G|CACNA1G_uc002irw.1_Silent_p.G746G|CACNA1G_uc002irx.1_Silent_p.G659G|CACNA1G_uc002iry.1_Silent_p.G659G|CACNA1G_uc002isg.1_Silent_p.G659G|CACNA1G_uc002ish.1_Silent_p.G659G|CACNA1G_uc002isi.1_Silent_p.G659G|CACNA1G_uc002irz.1_Silent_p.G659G|CACNA1G_uc002isa.1_Silent_p.G659G|CACNA1G_uc002isd.1_Silent_p.G659G|CACNA1G_uc002isb.1_Silent_p.G659G|CACNA1G_uc002isc.1_Silent_p.G659G|CACNA1G_uc002ise.1_Silent_p.G659G|CACNA1G_uc002isf.1_Silent_p.G659G NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 746 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGTACTTTGGCCGGGGAATCA 0.582000 3 45 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138305790 138305790 + Splice_Site DEL C C - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr7:138305790delC uc011kqh.2 - 13 1353 c.1353_splice c.e13+1 p.Q451_splice SVOPL_uc003vue.3_Splice_Site_p.Q299_splice NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 451 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTTGGCTGTACCTGGGATATA 0.567 8 15 --- --- --- --- SVOPL 136306 broad.mit.edu 37 7 138305790 138305790 + Splice_Site DEL C C - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr7:138305790delC uc011kqh.2 - 13 1353 c.1353_splice c.e13+1 p.Q451_splice SVOPL_uc003vue.3_Splice_Site_p.Q299_splice NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 451 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTTGGCTGTACCTGGGATATA 0.567 8 15 --- --- --- ---