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 DPYD 1806 broad.mit.edu 37 1 97564055 97564055 + Missense_Mutation SNP G G A TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr1:97564055G>A ENST00000370192.3 - 21 2856 c.2756C>T c.(2755-2757)cCt>cTt p.P919L DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 919 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CTTGATGGTAGGAATAGGCCT 0.299 3 121 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179637910 179637910 + Missense_Mutation SNP A A G TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr2:179637910A>G ENST00000589042.1 - 33 8005 c.7781T>C c.(7780-7782)aTg>aCg p.M2594T TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2328 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTTTCATCATATTTAGAAC 0.313 5 54 --- --- --- --- TNFRSF10B 8795 broad.mit.edu 37 8 22880193 22880193 + Silent SNP G G T TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr8:22880193G>T ENST00000276431.4 - 9 1598 c.1314C>A c.(1312-1314)gcC>gcA p.A438A TNFRSF10B_ENST00000347739.3_Silent_p.A409A|TNFRSF10B_ENST00000542226.1_Silent_p.A258A NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 438 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) CTTAGGACATGGCAGAGTCTG 0.478 3 41 --- --- --- --- FIBCD1 84929 broad.mit.edu 37 9 133779562 133779562 + Silent SNP G G A TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr9:133779562G>A ENST00000372338.4 - 7 1517 c.1275C>T c.(1273-1275)cgC>cgT p.R425R FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.R425R NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 425 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CGTGCGCACCGCGCAGGTACT 0.627 21 88 --- --- --- --- STK32C 282974 broad.mit.edu 37 10 134040390 134040390 + Missense_Mutation SNP T T C TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr10:134040390T>C ENST00000368622.1 - 4 583 c.202A>G c.(202-204)Aac>Gac p.N68D STK32C_ENST00000368625.4_Missense_Mutation_p.N198D Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 185 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) AACTGCACGTTCTGCTGCAGG 0.612 7 65 --- --- --- --- PTPRO 5800 broad.mit.edu 37 12 15742395 15742395 + Silent SNP C C T TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr12:15742395C>T ENST00000281171.4 + 25 3747 c.3417C>T c.(3415-3417)ggC>ggT p.G1139G PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000442921.2_Silent_p.G328G|PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000542557.1_Silent_p.G300G NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1139 Substrate binding (By similarity).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GCAGTGCTGGCGTGGGACGGA 0.453 7 160 --- --- --- --- ANO4 121601 broad.mit.edu 37 12 101381393 101381393 + Missense_Mutation SNP G G T TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr12:101381393G>T ENST00000392979.3 + 7 935 c.574G>T c.(574-576)Gac>Tac p.D192Y ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 227 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GACACTGCCAGACCTGGAGGA 0.498 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 151 --- --- --- --- TBC1D2B 23102 broad.mit.edu 37 15 78317633 78317633 + Missense_Mutation SNP C C T TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr15:78317633C>T ENST00000409931.3 - 5 1125 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 352 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 TTTAACTGTTCCAGCTCTTCC 0.547 9 76 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27022376 27022376 + Missense_Mutation SNP A A G TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr17:27022376A>G ENST00000314616.6 + 29 4064 c.3781A>G c.(3781-3783)Atg>Gtg p.M1261V SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1261 S1 motif. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ctaGGTGGGAATGACTGTTCA 0.488 10 29 --- --- --- --- SYMPK 8189 broad.mit.edu 37 19 46334800 46334800 + Silent SNP C C T TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr19:46334800C>T ENST00000245934.7 - 12 1684 c.1440G>A c.(1438-1440)aaG>aaA p.K480K NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 480 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TCTTCACCACCTTCTCCTCCT 0.622 3 17 --- --- --- --- ZNF616 90317 broad.mit.edu 37 19 52618945 52618945 + Missense_Mutation SNP T T C TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr19:52618945T>C ENST00000600228.1 - 4 1733 c.1472A>G c.(1471-1473)aAa>aGa p.K491R ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTTGTAAGGTTTCTCTCCAGT 0.403 3 105 --- --- --- --- PTPRA 5786 broad.mit.edu 37 20 3005196 3005196 + Missense_Mutation SNP G G A TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr20:3005196G>A ENST00000216877.6 + 16 1916 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 515 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GACCTCTCTAGAAACCCACCT 0.433 15 116 --- --- --- --- ATP9A 10079 broad.mit.edu 37 20 50307319 50307319 + Missense_Mutation SNP G G A TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr20:50307319G>A ENST00000338821.5 - 8 946 c.682C>T c.(682-684)Cca>Tca p.P228S ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 228 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCAATATTTGGCTCTTCTGCG 0.463 6 155 --- --- --- --- MAN2A1 4124 broad.mit.edu 37 5 109124684 109124684 + Frame_Shift_Del DEL T T - TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr5:109124684delT ENST00000261483.4 + 11 2862 c.1810delT c.(1810-1812)tttfs p.F604fs NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 604 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AAATTCTGCATTTCTTCTTAT 0.303 15 59 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129762070 129762072 + In_Frame_Del DEL GAA GAA - TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72ce9985-5383-41a0-a73d-5284713c9bba a72932e7-2901-4401-8f43-07c9a529e422 g.chr6:129762070_129762072delGAA ENST00000421865.2 + 43 6244_6246 c.6195_6197delGAA c.(6193-6198)ctgaag>ctg p.K2067del NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2067 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCGATGGCCTGAAGAAGAATTAC 0.438 7 38 --- --- --- ---