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 PSG2 5670 broad.mit.edu 37 19 43576025 43576025 + Missense_Mutation SNP T T C TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr19:43576025T>C uc002ovr.3 - 3 963 c.791A>G c.(790-792)aAc>aGc p.N264S PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 264 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.A263V(1)|p.A263A(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGGGTTAGAGTTCGCGAAGCA 0.443000 86 109 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38016255 38016255 + Missense_Mutation SNP G G A rs146651232 byFrequency TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:38016255G>A uc004ddy.2 - 7 1115 c.983C>T c.(982-984)aCg>aTg p.T328M SRPX_uc011mki.2_Missense_Mutation_p.T328M|SRPX_uc004ddz.2_Missense_Mutation_p.T308M|SRPX_uc011mkh.2_Missense_Mutation_p.T269M NM_006307 NP_006298 P78539 SRPX_HUMAN Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA. 328 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TGCAGCTGCCGTTCTGACACC 0.498000 22 34 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421632 134421632 + Missense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:134421632G>A uc022ceq.1 - 5 1360 c.970C>T c.(970-972)Cac>Tac p.H324Y DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.H229Y NM_007131 NP_009062 P51815 ZN75D_HUMAN Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA. 324 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T323A(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TGTACACTGTGTGTATCACCA 0.388000 21 96 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1484922 1484922 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr7:1484922C>T uc003skj.4 - 5 931 c.784G>A c.(784-786)Gcc>Acc p.A262T MICALL2_uc003ski.4_5'Flank NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 262 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) ACACCCATGGCCCCTGGCTGT 0.687000 17 15 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48888961 48888961 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:48888961C>T uc004dmb.3 - 8 1473 c.1235G>A c.(1234-1236)cGg>cAg p.R412Q TFE3_uc004dmc.3_Missense_Mutation_p.R307Q NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 412 Leucine-zipper. humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GGATCGCTGCCGGCTCTCCAG 0.597000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 8 11 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29121000 29121000 + Missense_Mutation SNP T T C TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr22:29121000T>C uc003adt.1 - 4 758 c.686A>G c.(685-687)aAt>aGt p.N229S CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N186S|CHEK2_uc003adu.1_Missense_Mutation_p.N186S|CHEK2_uc003adv.1_Missense_Mutation_p.N186S|CHEK2_uc003adx.1_5'UTR NM_001005735 NP_001005735 O96017 CHK2_HUMAN Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 3, mRNA. 186 Protein kinase. DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AATTTCAGAATTGTTATTCAA 0.338000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 23 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779137 156779137 + Missense_Mutation SNP A A G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:156779137A>G uc009wsh.2 - 6 1030 c.890T>C c.(889-891)aTa>aCa p.I297T SH2D2A_uc001fqc.1_Missense_Mutation_p.I259T|SH2D2A_uc001fqd.2_Missense_Mutation_p.I287T|SH2D2A_uc001fqe.2_Missense_Mutation_p.I269T|SH2D2A_uc010phs.1_Missense_Mutation_p.I287T NM_001161441 NP_001154913 Q9NP31 SH22A_HUMAN Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA. 287 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATAGAAAGCTATGGGTTCATC 0.612000 8 123 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31656510 31656510 + Nonsense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr6:31656510G>A uc003nvy.2 - 13 1319 c.1240C>T c.(1240-1242)Cag>Tag p.Q414* ABHD16A_uc003nvx.2_Nonsense_Mutation_p.Q195*|ABHD16A_uc011dny.2_Nonsense_Mutation_p.Q381*|ABHD16A_uc010jtc.2_Nonsense_Mutation_p.Q195*|ABHD16A_uc011dnz.2_Nonsense_Mutation_p.Q195* NM_021160 NP_066983 O95870 ABHGA_HUMAN Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA. 414 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CTGCACAGCTGCTCCGCGTTG 0.582000 17 13 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817854 77817854 + Silent SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr4:77817854G>A uc003hki.3 - 0 1149 c.1149C>T c.(1147-1149)cgC>cgT p.R383R NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA. 383 AACGAATGCTGCGAAAGACAG 0.572000 35 58 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59989372 59989372 + Missense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr17:59989372G>A uc002izn.3 - 5 809 c.733C>T c.(733-735)Cgc>Tgc p.R245C INTS2_uc002izm.3_Missense_Mutation_p.R237C NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 245 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TCTGTCCTGCGCCTTCCTCCA 0.428000 24 135 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771737 97771737 + Silent SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:97771737C>T uc001drv.3 - 16 2312 c.2175G>A c.(2173-2175)aaG>aaA p.K725K NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 725 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion 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) TCTTACCTTCCTTTGCAGCTC 0.438000 11 224 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31323335 31323335 + Silent SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr6:31323335G>A uc003nth.2 - 3 708 c.654C>T c.(652-654)atC>atT p.I218I HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Silent_p.I97I|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR NM_005514 NP_005505 Q9TNN7 1C05_HUMAN Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA. 218 Alpha-3.|Ig-like C1-type. V -> I (in allele Cw*05:03). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CATGGTCAGAGATGGGGTGGT 0.582000 55 52 0 0 1 0 0 KIAA0913 23053 broad.mit.edu 37 10 75557769 75557769 + Missense_Mutation SNP A A G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr10:75557769A>G uc001jvj.3 + 18 4133 c.3878A>G c.(3877-3879)aAc>aGc p.N1293S KIAA0913_uc001jve.3_Missense_Mutation_p.N1298S|KIAA0913_uc009xrl.3_Missense_Mutation_p.N1293S|KIAA0913_uc001jvf.3_Missense_Mutation_p.N1293S|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.N728S|KIAA0913_uc010qkr.2_Missense_Mutation_p.N716S|KIAA0913_uc009xrn.2_5'Flank NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 1293 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) GGCCTGCACAACTTTGTTTCT 0.507000 24 26 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212473 26212473 + Silent SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:26212473C>T uc004dbr.3 + 1 659 c.510C>T c.(508-510)gcC>gcT p.A170A MAGEB6_uc022buc.1_Silent_p.A170A NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 170 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGTGGCTGCCGAGGGTGAAG 0.517000 11 65 0 0 1 0 0 PPID 5481 broad.mit.edu 37 4 159644365 159644365 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr4:159644365C>T uc003iqc.3 - 0 188 c.76G>A c.(76-78)Ggg>Agg p.G26R NM_005038 NP_005029 Q08752 PPID_HUMAN Homo sapiens peptidylprolyl isomerase D (PPID), mRNA. 26 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) CCTCGCTCCCCTCCGATGTCC 0.632000 17 12 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810393 123810393 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr11:123810393C>T uc001pzk.1 + 0 70 c.70C>T c.(70-72)Cgg>Tgg p.R24W NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGGGAGCTTCGGTTTGTTTT 0.468000 40 39 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70828156 70828156 + Missense_Mutation SNP C C G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr5:70828156C>G uc003kbp.1 + 25 6057 c.5794C>G c.(5794-5796)Cca>Gca p.P1932A BDP1_uc003kbo.3_Missense_Mutation_p.P1932A|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1932 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGTGAATGTCCCAGATGTAGG 0.338000 12 14 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20975019 20975019 + Missense_Mutation SNP T T C TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:20975019T>C uc001bdm.3 + 5 1239 c.1145T>C c.(1144-1146)aTc>aCc p.I382T PINK1_uc001bdn.3_Missense_Mutation_p.I75T NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA. 382 Protein kinase. cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGGCTGGTGATCGCAGATTTT 0.602000 9 25 0 0 1 0 0