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 LAMP3 27074 broad.mit.edu 37 3 182871615 182871615 + Missense_Mutation SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr3:182871615G>A ENST00000265598.3 - 2 869 c.614C>T c.(613-615)gCt>gTt p.A205V LAMP3_ENST00000466939.1_Missense_Mutation_p.A181V NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 205 Thr-rich. cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GGCAGGTGCAGCTGTGCGGGT 0.547000 4 105 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57751948 57751948 + Missense_Mutation SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr5:57751948G>A ENST00000274289.3 - 10 1589 c.1289C>T c.(1288-1290)tCt>tTt p.S430F PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 430 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GGGTGTTCCAGACCTGGCAAC 0.473000 5 79 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4443214 4443214 + Silent SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr17:4443214G>A ENST00000254718.4 - 26 3789 c.3483C>T c.(3481-3483)acC>acT p.T1161T MYBBP1A_ENST00000381556.2_Silent_p.T1161T Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1161 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TGGGGCTCTGGGTGGCACTGG 0.572000 13 133 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69522320 69522320 + Silent SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr14:69522320G>A ENST00000341516.5 - 9 1230 c.1083C>T c.(1081-1083)agC>agT p.S361S DCAF5_ENST00000554215.1_Silent_p.S279S|DCAF5_ENST00000556847.1_Silent_p.S279S|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Silent_p.S360S NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 361 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GCTTGTATGGGCTCCAGATCT 0.473000 47 74 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1636450 1636450 + Missense_Mutation SNP G G C TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr1:1636450G>C ENST00000356200.3 - 12 1483 c.1249C>G c.(1249-1251)Cta>Gta p.L417V CDK11A_ENST00000357760.2_Missense_Mutation_p.L450V|CDK11A_ENST00000358779.5_Missense_Mutation_p.L441V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.L417V|CDK11A_ENST00000378633.1_Missense_Mutation_p.L454V|CDK11A_ENST00000404249.3_Missense_Mutation_p.L451V cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AGCCGCTTTAGAGCCACAATT 0.527000 34 61 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116758279 116758279 + Missense_Mutation SNP C C T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr6:116758279C>T ENST00000331677.3 + 7 3092 c.2648C>T c.(2647-2649)gCa>gTa p.A883V DSE_ENST00000537543.1_Missense_Mutation_p.A902V|DSE_ENST00000452085.3_Missense_Mutation_p.A883V|DSE_ENST00000359564.2_Missense_Mutation_p.A883V Q9UL01 DSE_HUMAN dermatan sulfate epimerase 883 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTTGGACAGGCACGGATGGTG 0.418000 37 56 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887369 179887369 + Silent SNP T T C TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr1:179887369T>C ENST00000435319.3 + 10 1938 c.1747T>C c.(1747-1749)Tta>Cta p.L583L TOR1AIP1_ENST00000271583.3_Silent_p.L599L NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 583 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 GGGCATCTGCTTATAAGAAGT 0.418000 3 41 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102276323 102276323 + Missense_Mutation SNP C C T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr14:102276323C>T ENST00000334743.5 + 1 92 c.44C>T c.(43-45)gCg>gTg p.A15V PPP2R5C_ENST00000554442.1_Intron|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A15V|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000557714.1_Missense_Mutation_p.A15V|CTD-2017C7.2_ENST00000554859.1_RNA|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000556946.1_Missense_Mutation_p.A15V|PPP2R5C_ENST00000556068.1_Intron NM_002719.3 NP_002710.2 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 15 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GTGGTGGATGCGGCCAACTCC 0.498000 3 50 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100961815 100961815 + Missense_Mutation SNP G G A TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr9:100961815G>A ENST00000375066.5 - 13 2693 c.2602C>T c.(2602-2604)Cgg>Tgg p.R868W TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R661W|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R419W NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 879 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity p.R868W(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CGCAGCTGCCGCAGCTGTTTC 0.637000 7 151 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174169178 174169178 + Silent SNP A A G TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr4:174169178A>G ENST00000265000.4 + 2 257 c.174A>G c.(172-174)ggA>ggG p.G58G GALNT7_ENST00000512285.1_Silent_p.G58G NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 58 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) GCGGCAATGGACTAGCTCCTG 0.478000 5 73 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299510 125299510 + Missense_Mutation SNP A A T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chrX:125299510A>T ENST00000538699.1 - 2 478 c.398T>A c.(397-399)aTc>aAc p.I133N DCAF12L2_ENST00000360028.2_Missense_Mutation_p.I133N NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 133 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CATGAGGGGGATGCGCGTGAT 0.642000 4 55 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 23 62 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724384 49724384 + Missense_Mutation SNP C C G TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr3:49724384C>G ENST00000449682.2 - 6 1085 c.724G>C c.(724-726)Ggc>Cgc p.G242R MST1_ENST00000545762.1_3'UTR|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.G167R NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 228 Kringle 2. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCGTACTTGCCCGGCTCGAAG 0.697000 11 20 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149494406 149494406 + RNA SNP G G T TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr7:149494406G>T ENST00000378016.2 + 0 6877 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCCAGCCGGGGCAGCTGCT 0.662000 3 46 1 1 1 1 0 DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-ET-A39O-01A-11D-A19J-08 TCGA-ET-A39O-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a11507a1-daee-4179-b87d-4f05601ef99f 6d9a552a-0047-4d57-bb65-6ebfd311a994 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 8 104 --- --- --- ---