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 CD200R1 131450 broad.mit.edu 37 3 112644003 112644003 + Silent SNP T T A TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr3:112644003T>A ENST00000471858.1 - 5 970 c.738A>T c.(736-738)ccA>ccT p.P246P CD200R1_ENST00000308611.3_Silent_p.P269P|CD200R1_ENST00000295863.4_Intron NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 246 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GGATGATATATGGAATATATA 0.299000 5 62 0 0 0.000602 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 4 109 0 0 0.000248 0 0 ZNF451 26036 broad.mit.edu 37 6 57012664 57012664 + Missense_Mutation SNP A A G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr6:57012664A>G ENST00000370706.4 + 10 2025 c.1781A>G c.(1780-1782)gAt>gGt p.D594G RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D594G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACTGTTATTGATCATTCCCCG 0.408000 3 73 0 0 0.000602 0 0 ZNF502 91392 broad.mit.edu 37 3 44763193 44763193 + Missense_Mutation SNP A A G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr3:44763193A>G ENST00000296091.4 + 4 1140 c.884A>G c.(883-885)tAc>tGc p.Y295C ZNF502_ENST00000449836.1_Missense_Mutation_p.Y295C|ZNF502_ENST00000436624.2_Missense_Mutation_p.Y295C NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GAGAAGCCTTACATATGCAGT 0.398000 7 330 0 0 0.004482 0 0 RCC1 1104 broad.mit.edu 37 1 28863397 28863397 + Missense_Mutation SNP C C T TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr1:28863397C>T ENST00000373833.6 + 12 1361 c.1076C>T c.(1075-1077)gCt>gTt p.A359V RCC1_ENST00000398958.2_Missense_Mutation_p.A359V|RCC1_ENST00000373831.3_Missense_Mutation_p.A390V|RCC1_ENST00000373832.1_Missense_Mutation_p.A359V P18754 RCC1_HUMAN regulator of chromosome condensation 1 359 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GTGGGGTATGCTGTGACCAAG 0.587000 4 192 0 0 0.000602 0 0 DNAH2 146754 broad.mit.edu 37 17 7667276 7667276 + Missense_Mutation SNP G G A TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr17:7667276G>A ENST00000572933.1 + 19 4566 c.3106G>A c.(3106-3108)Gcg>Acg p.A1036T DNAH2_ENST00000389173.2_Missense_Mutation_p.A1036T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1036 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAACAAGTTCGCGACTCTGCT 0.592000 5 48 0 0 0.001984 0 0 CD200R1 131450 broad.mit.edu 37 3 112644004 112644004 + Missense_Mutation SNP G G A TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr3:112644004G>A ENST00000471858.1 - 5 969 c.737C>T c.(736-738)cCa>cTa p.P246L CD200R1_ENST00000308611.3_Missense_Mutation_p.P269L|CD200R1_ENST00000295863.4_Intron NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 246 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GATGATATATGGAATATATAA 0.299000 5 62 0 0 0.000602 0 0 PSG8 0 broad.mit.edu 37 19 43259223 43259223 + Missense_Mutation SNP C C G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr19:43259223C>G ENST00000404209.4 - 4 1001 c.905G>C c.(904-906)aGa>aCa p.R302T PSG8_ENST00000406636.3_Missense_Mutation_p.R180T|PSG8_ENST00000306511.4_Missense_Mutation_p.R302T|PSG8_ENST00000401467.2_Missense_Mutation_p.R209T|PSG8_ENST00000600709.1_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 302 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGTTTCATTTCTCGTGACACT 0.478000 22 210 0 0 0.007291 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 5 161 0 0 0.001168 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 51 0 0 0.006214 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 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 27 51 0 0 0.007291 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389546 1389546 + Missense_Mutation SNP A A G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr4:1389546A>G ENST00000324803.4 + 1 4207 c.1247A>G c.(1246-1248)gAc>gGc p.D416G NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 416 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCGAGTCAGACGCTGTTACC 0.502000 3 95 0 0 0.004672 0 0 TSC22D3 1831 broad.mit.edu 37 X 107018377 107018377 + Silent SNP G G A TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chrX:107018377G>A ENST00000372383.4 - 1 640 c.273C>T c.(271-273)aaC>aaT p.N91N TSC22D3_ENST00000506081.1_Silent_p.N91N|TSC22D3_ENST00000315660.4_Silent_p.N91N|TSC22D3_ENST00000514426.1_Silent_p.N23N|TSC22D3_ENST00000372384.2_Silent_p.N91N NM_198057.2 NP_932174.1 Q99576 T22D3_HUMAN TSC22 domain family, member 3 0 Leucine-zipper. sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 CGATGTTGCGGTTGCAGATGC 0.597000 4 107 0 0 0.000602 0 0 PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 8 517 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 3 6 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 6 --- --- --- ---