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 SLC26A8 116369 broad.mit.edu 37 6 35960439 35960439 + Missense_Mutation SNP C C T rs150075304 TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr6:35960439C>T ENST00000490799.1 - 6 993 c.640G>A c.(640-642)Gta>Ata p.V214I SLC26A8_ENST00000355574.2_Missense_Mutation_p.V214I|SLC26A8_ENST00000394602.2_Intron NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 214 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AAACCCAATACGCCCATTATT 0.493000 5 96 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29323193 29323193 + Silent SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr3:29323193G>A ENST00000434693.2 + 1 721 c.21G>A c.(19-21)caG>caA p.Q7Q RBMS3_ENST00000383767.2_Silent_p.Q7Q|RBMS3_ENST00000445033.1_Silent_p.Q7Q|RBMS3_ENST00000383766.2_Silent_p.Q7Q|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000396583.3_Silent_p.Q7Q|RBMS3_ENST00000273139.9_Silent_p.Q7Q|RBMS3_ENST00000456853.1_Silent_p.Q7Q|RBMS3_ENST00000452462.1_Silent_p.Q7Q NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 7 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GCCTGGATCAGCCACAAATGT 0.522000 9 67 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49070172 49070172 + Missense_Mutation SNP T T C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr3:49070172T>C ENST00000395443.2 - 8 2402 c.1930A>G c.(1930-1932)Aag>Gag p.K644E QRICH1_ENST00000424300.1_Missense_Mutation_p.K644E|QRICH1_ENST00000357496.2_Missense_Mutation_p.K644E NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 644 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AAGGCCAGCTTCATGTGCTGG 0.502000 22 100 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196274364 196274364 + Splice_Site SNP C C T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr1:196274364C>T ENST00000367433.5 - 21 2624 c.2523_splice c.e21+1 p.K841_splice KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Splice_Site_p.K865_splice|KCNT2_ENST00000367431.4_Splice_Site_p.K791_splice|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 865 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGGGTCTTACCTTTTCCAGTT 0.338000 3 40 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902431 40902431 + Missense_Mutation SNP C C T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr19:40902431C>T ENST00000324001.7 - 7 2098 c.1828G>A c.(1828-1830)Gag>Aag p.E610K PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 610 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACGGCCATCTCGGGCACCTTC 0.532000 10 273 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 27 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16953672 16953672 + RNA SNP C C T rs3738597 by1000genomes TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr1:16953672C>T ENST00000412962.1 - 0 589 TCGGTCTTCTCGGCCTGCAGC 0.652000 8 51 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112112278 112112278 + Missense_Mutation SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr7:112112278G>A ENST00000403825.3 + 10 1307 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q IFRD1_ENST00000005558.4_Missense_Mutation_p.R349Q|IFRD1_ENST00000535603.1_Missense_Mutation_p.R299Q NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 349 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 GGTTAGGAACGGGATTTTCCA 0.383000 18 67 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32833775 32833775 + Missense_Mutation SNP G G C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr22:32833775G>C ENST00000397452.1 - 8 829 c.719C>G c.(718-720)aCt>aGt p.T240S BPIFC_ENST00000300399.3_Missense_Mutation_p.T240S|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.T54S Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 240 extracellular region lipopolysaccharide binding|phospholipid binding GTAGTTCTCAGTAATTTCTGG 0.358000 8 29 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41094661 41094661 + Missense_Mutation SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr19:41094661G>A ENST00000291842.5 + 14 1517 c.1468G>A c.(1468-1470)Ggc>Agc p.G490S SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.G465S NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 490 voltage-gated potassium channel complex voltage-gated potassium channel activity p.G490S(1) breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGGGCATGGCGGCTGCAGTGC 0.617000 9 63 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36333388 36333388 + Missense_Mutation SNP C C T rs146400394 TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr19:36333388C>T ENST00000378910.5 - 18 2398 c.2399G>A c.(2398-2400)cGc>cAc p.R800H NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 800 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane p.R800H(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AATCCGCAGGCGCCCCGTTGG 0.607000 15 92 0 0 1 0 0 CYP11B1 0 broad.mit.edu 37 8 143960802 143960802 + Missense_Mutation SNP G G T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr8:143960802G>T ENST00000377675.3 - 2 340 c.334C>A c.(334-336)Ccc>Acc p.P112T CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 80 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGCGAGCTGGGATTTGCTCTG 0.602000 Familial Hyperaldosteronism type I 8 36 2.74318e-10 2.9439e-10 1 1 0 NHS 4810 broad.mit.edu 37 X 17743968 17743968 + Missense_Mutation SNP G G T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chrX:17743968G>T ENST00000380060.3 + 6 2017 c.1679G>T c.(1678-1680)aGg>aTg p.R560M NHS_ENST00000398097.3_Missense_Mutation_p.R404M NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 560 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GAGAGGGGAAGGTCACGTCTG 0.597000 5 111 0.184627 0.184627 1 1 0 NLGN2 57555 broad.mit.edu 37 17 7318355 7318355 + Missense_Mutation SNP C C T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr17:7318355C>T ENST00000302926.2 + 5 998 c.925C>T c.(925-927)Cgg>Tgg p.R309W NLGN2_ENST00000575301.1_Missense_Mutation_p.R309W NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 309 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CAAGTACACGCGGCTGCTGGC 0.652000 4 80 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44118317 44118317 + Missense_Mutation SNP C C T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr6:44118317C>T ENST00000259746.9 + 18 1807 c.1624C>T c.(1624-1626)Cgc>Tgc p.R542C TMEM63B_ENST00000323267.6_Missense_Mutation_p.R542C Q5T3F8 TM63B_HUMAN transmembrane protein 63B 542 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CCTCTTCTTCCGCTGGCTCTT 0.572000 17 71 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117724027 117724027 + Missense_Mutation SNP T T C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr12:117724027T>C ENST00000317775.6 - 6 1857 c.1172A>G c.(1171-1173)aAa>aGa p.K391R NOS1_ENST00000338101.4_Missense_Mutation_p.K391R|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 391 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCGATCTCTTTGTTCACCTC 0.532000 3 37 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577117 7577117 + Missense_Mutation SNP A A C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr17:7577117A>C ENST00000420246.2 - 8 953 c.821T>G c.(820-822)gTt>gGt p.V274G TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000269305.4_Missense_Mutation_p.V274G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 274 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACAGGCACAAACACGCACCTC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 42 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 14 80 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338256 151338256 + Missense_Mutation SNP G G C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr1:151338256G>C ENST00000435071.1 - 8 1180 c.718C>G c.(718-720)Ccc>Gcc p.P240A SELENBP1_ENST00000426705.2_Missense_Mutation_p.P346A|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P242A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P304A Q13228 SBP1_HUMAN selenium binding protein 1 304 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGCATTTCGGGCAGCAGCCAG 0.577000 11 275 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24622165 24622165 + Missense_Mutation SNP C C A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr22:24622165C>A ENST00000327365.4 - 8 1524 c.1108G>T c.(1108-1110)Gac>Tac p.D370Y GGT5_ENST00000398292.3_Missense_Mutation_p.D370Y|GGT5_ENST00000418439.2_Missense_Mutation_p.D293Y|GGT5_ENST00000263112.7_Missense_Mutation_p.D338Y NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 370 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 AGCTGGTGGTCCCCCCGGCCA 0.697000 10 45 0.00136819 0.00140001 1 1 0 PDZD4 57595 broad.mit.edu 37 X 153069212 153069212 + Missense_Mutation SNP C C T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chrX:153069212C>T ENST00000164640.4 - 8 2097 c.1906G>A c.(1906-1908)Gtg>Atg p.V636M PDZD4_ENST00000393758.2_Missense_Mutation_p.V561M|PDZD4_ENST00000544474.1_Missense_Mutation_p.V527M NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 636 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTTGGCCACGTAGCGGGTT 0.701000 8 150 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134295 91134295 + Missense_Mutation SNP C C A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chrX:91134295C>A ENST00000361724.1 + 2 3901 c.3056C>A c.(3055-3057)aCa>aAa p.T1019K PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000298274.8_Intron NM_014522.1 NP_055337.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTTTCTAACACAACTTTCTAA 0.378000 5 123 0.00116845 0.00122409 1 1 0 VSIG4 11326 broad.mit.edu 37 X 65253439 65253439 + Missense_Mutation SNP A A G TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chrX:65253439A>G ENST00000455586.2 - 2 415 c.289T>C c.(289-291)Tcc>Ccc p.S97P VSIG4_ENST00000412866.2_Missense_Mutation_p.S97P|VSIG4_ENST00000374737.4_Missense_Mutation_p.S97P NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 97 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AATTGGAGGGATACATCTCCT 0.537000 9 205 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 35 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3319342 3319342 + Missense_Mutation SNP G G A TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr4:3319342G>A ENST00000336727.3 + 2 2349 c.1445G>A c.(1444-1446)gGg>gAg p.G482E RGS12_ENST00000543385.1_Missense_Mutation_p.G482E|RGS12_ENST00000382788.3_Missense_Mutation_p.G482E|RGS12_ENST00000344733.5_Missense_Mutation_p.G482E NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 482 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GACCCCGAAGGGAGCCCCCCA 0.677000 26 120 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106061970 106061970 + Missense_Mutation SNP C C G rs143630640 byFrequency TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chrX:106061970C>G ENST00000357242.5 + 2 382 c.208C>G c.(208-210)Cca>Gca p.P70A TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P70A NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 70 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACACCAGACACCAGATTCTCA 0.363000 5 120 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 5 86 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839768 62839768 + Nonsense_Mutation SNP C C T TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr20:62839768C>T ENST00000536311.1 + 7 1583 c.1219C>T c.(1219-1221)Cag>Tag p.Q407* MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q407*|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 407 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGAGCAGAGCCAGCTGGGCCT 0.672000 18 45 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76931745 76931745 + Missense_Mutation SNP T T C TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chrX:76931745T>C ENST00000373344.5 - 10 3999 c.3785A>G c.(3784-3786)gAt>gGt p.D1262G ATRX_ENST00000395603.3_Missense_Mutation_p.D1224G|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1262 Poly-Asp. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATTGTCGTCATCATCATCATC 0.373000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 6 93 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2840757 2840759 + In_Frame_Del DEL ATA ATA - TCGA-HT-8018-01A-11D-2395-08 TCGA-HT-8018-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx e43ccfe7-fa40-4168-925e-cda8c41db3ca 90acc6c9-bfed-426d-b85b-590b0e9535d6 g.chr20:2840757_2840759delATA ENST00000380445.3 + 3 272_274 c.200_202delATA c.(199-204)gta>g p.DI67del VPS16_ENST00000380469.3_In_Frame_Del_p.DI67del NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 67 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CCAGTGCTCGATATATACTCTGC 0.591 22 88 --- --- --- ---