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 RP11-69H14.6 0 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 3 262 0 0 0.004672 0 0 COL12A1 1303 broad.mit.edu 37 6 75843113 75843113 + Missense_Mutation SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr6:75843113T>C ENST00000322507.8 - 34 5999 c.5690A>G c.(5689-5691)tAt>tGt p.Y1897C COL12A1_ENST00000483888.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y733C|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y1897C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1897 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAGAATGGCATAATTGGTATT 0.368000 17 39 0 0 0.006122 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334209 39334209 + Missense_Mutation SNP A A G TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr17:39334209A>G ENST00000377726.2 - 1 251 c.208T>C c.(208-210)Tgc>Cgc p.C70R NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 70 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GTCCTGCAGCAAGTGGTCTGG 0.672000 24 148 0 0 0.004656 0 0 PRPS1 5631 broad.mit.edu 37 X 106890921 106890921 + Missense_Mutation SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chrX:106890921G>A ENST00000372435.4 + 6 912 c.790G>A c.(790-792)Gca>Aca p.A264T PRPS1_ENST00000372418.1_Missense_Mutation_p.A164T|PRPS1_ENST00000372428.4_Missense_Mutation_p.A197T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A264T NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 264 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 CATCAACAACGCATGCTTTGA 0.453000 5 221 0 0 0.001168 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 64 0 0 0.000602 0 0 C2orf83 56918 broad.mit.edu 37 2 228476316 228476316 + Missense_Mutation SNP C C T rs111332429 byFrequency TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr2:228476316C>T ENST00000264387.4 - 3 333 c.247G>A c.(247-249)Gta>Ata p.V83I C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 83 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 CATGTCTGTACGGTAAGTTTC 0.468000 6 55 0 0 0.001168 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 65 0 0 0.004672 0 0 EHBP1 23301 broad.mit.edu 37 2 62934336 62934336 + Missense_Mutation SNP G G T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr2:62934336G>T ENST00000263991.5 + 2 492 c.10G>T c.(10-12)Gtt>Ttt p.V4F EHBP1_ENST00000431489.1_Missense_Mutation_p.V4F|EHBP1_ENST00000405289.1_Missense_Mutation_p.V4F|EHBP1_ENST00000354487.3_Missense_Mutation_p.V4F|EHBP1_ENST00000405015.3_Missense_Mutation_p.V4F NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 4 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) CATGGCTTCAGTTTGGAAGAG 0.463000 19 36 3.6726e-16 7.09192e-16 0.003954 1 0 ETAA1 54465 broad.mit.edu 37 2 67630066 67630066 + Missense_Mutation SNP G G T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr2:67630066G>T ENST00000272342.5 + 4 632 c.502G>T c.(502-504)Gta>Tta p.V168L ETAA1_ENST00000462772.1_3'UTR NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 168 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TACTCCCAGTGTAGCAAAAGG 0.353000 3 51 0.004672 0.00872107 0.004672 1 0 GPR141 353345 broad.mit.edu 37 7 37780300 37780300 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr7:37780300C>T ENST00000447769.1 + 4 594 c.305C>T c.(304-306)aCg>aTg p.T102M EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T102M Q7Z602 GP141_HUMAN G protein-coupled receptor 141 102 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATGTACCTCACGTTCCTATTC 0.473000 22 78 0 0 0.010504 0 0 AP3B1 8546 broad.mit.edu 37 5 77311327 77311327 + Missense_Mutation SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr5:77311327G>A ENST00000255194.6 - 26 3213 c.3038C>T c.(3037-3039)gCa>gTa p.A1013V AP3B1_ENST00000519295.1_Missense_Mutation_p.A964V NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 1013 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ATTCTGTGGTGCAGCAATGAT 0.383000 Hermansky-Pudlak syndrome 24 75 0 0 0.003954 0 0 LRTM2 0 broad.mit.edu 37 12 1940261 1940261 + Silent SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr12:1940261G>A ENST00000543818.1 + 4 1070 c.228G>A c.(226-228)ttG>ttA p.L76L LRTM2_ENST00000299194.1_Silent_p.L76L|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Silent_p.L76L|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 76 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TCTTGCTCTTGAACAATAAGC 0.642000 60 192 0 0 0.014410 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103568560 103568560 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr14:103568560C>T ENST00000380069.3 + 2 576 c.500C>T c.(499-501)aCc>aTc p.T167I NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 167 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GCCTCGCGCACCTTTGAGCAG 0.657000 6 19 0 0 0.001168 0 0 CNPY4 245812 broad.mit.edu 37 7 99720117 99720117 + Missense_Mutation SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr7:99720117G>A ENST00000262932.3 + 3 391 c.259G>A c.(259-261)Gaa>Aaa p.E87K CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 87 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GACAAGGCTGGAAGAGGCCTT 0.537000 53 249 0 0 0.014410 0 0 TLL2 7093 broad.mit.edu 37 10 98155751 98155751 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr10:98155751C>T ENST00000357947.3 - 12 1636 c.1411G>A c.(1411-1413)Gat>Aat p.D471N TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 471 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGACCGGCATCTTTGTTCATG 0.517000 OREG0020398 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 94 0 0 0.014410 0 0 TMEM251 26175 broad.mit.edu 37 14 93652904 93652904 + Missense_Mutation SNP A A G TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr14:93652904A>G ENST00000415050.2 + 2 773 c.398A>G c.(397-399)aAa>aGa p.K133R RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.K95R NM_001098621.1 NP_001092091.1 transmembrane protein 251 GCTGATCCCAAAACAGTGGGC 0.418000 5 239 0 0 0.000602 0 0 SHROOM2 357 broad.mit.edu 37 X 9862838 9862838 + Missense_Mutation SNP A A G TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chrX:9862838A>G ENST00000380913.3 + 4 980 c.890A>G c.(889-891)aAt>aGt p.N297S NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 297 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GGGAGGTCCAATTTTGGGCCA 0.612000 17 65 0 0 0.007413 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384958 219384958 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr1:219384958C>T ENST00000366928.5 + 5 649 c.602C>T c.(601-603)aCg>aTg p.T201M LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.T185M NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 201 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) GGAGTGACCACGAAGTTTCAT 0.373000 15 64 0 0 0.006122 0 0 UBQLN3 50613 broad.mit.edu 37 11 5528997 5528997 + Missense_Mutation SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr11:5528997T>C ENST00000311659.4 - 2 1939 c.1792A>G c.(1792-1794)Atg>Gtg p.M598V HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 598 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTGCAGCATATGGAGAAAG 0.542000 59 40 0 0 0.014410 0 0 FUK 197258 broad.mit.edu 37 16 70509259 70509259 + Missense_Mutation SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr16:70509259T>C ENST00000288078.6 + 19 2616 c.2384T>C c.(2383-2385)cTg>cCg p.L795P FUK_ENST00000571514.1_Missense_Mutation_p.L286P|FUK_ENST00000378912.2_Missense_Mutation_p.L827P NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 795 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GCAGGGGCCCTGCTGAAGGCG 0.627000 3 86 0 0 0.004672 0 0 GRM6 2916 broad.mit.edu 37 5 178408846 178408846 + Frame_Shift_Del DEL G G - TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr5:178408846delG ENST00000231188.5 - 10 2624 c.2446delC c.(2446-2448)agfs p.Q816fs GRM6_ENST00000517717.1_Frame_Shift_Del_p.Q816fs|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 816 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GTGGTTGTCTGGATGTAGATC 0.577 67 227 --- --- --- --- CTC-338M12.4 0 broad.mit.edu 37 5 180699086 180699087 + RNA INS - - A rs149736603 TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr5:180699086_180699087insA ENST00000511331.1 + 0 918_919 CTC-338M12.3_ENST00000507434.1_RNA CTTTCCATCAGAAAAAAAAAAA 0.406 4 2 --- --- --- ---