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 CHAMP1 283489 broad.mit.edu 37 13 115090946 115090946 + Silent SNP A A G TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr13:115090946A>G ENST00000361283.1 + 3 1938 c.1629A>G c.(1627-1629)ccA>ccG p.P543P NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 543 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding CTGCTTCTCCAGAAGCACGCA 0.527000 8 392 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95191198 95191198 + Silent SNP G G T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr10:95191198G>T ENST00000371501.4 - 4 434 c.312C>A c.(310-312)atC>atA p.I104I MYOF_ENST00000359263.4_Silent_p.I104I|MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000371502.4_Silent_p.I104I Q9NZM1 MYOF_HUMAN myoferlin 104 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTAGCAGGGAGATCAGCTTGT 0.448000 26 38 3.90053e-15 4.07388e-15 1 1 0 SULT1A2 6799 broad.mit.edu 37 16 28606753 28606753 + Nonsense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr16:28606753G>A ENST00000395630.1 - 4 657 c.307C>T c.(307-309)Cga>Tga p.R103* SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103* NM_177528.2 NP_803564.1 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 103 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TTCAGGAGTCGTGGGGCTGGT 0.592000 12 115 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222294846 222294846 + Missense_Mutation SNP T T C TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr2:222294846T>C ENST00000281821.2 - 15 2563 c.2522A>G c.(2521-2523)tAt>tGt p.Y841C EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 841 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGGTAACCGATAGCCTTCCTC 0.527000 9 58 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50683336 50683336 + Silent SNP C C A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr5:50683336C>A ENST00000230658.7 + 3 816 c.231C>A c.(229-231)atC>atA p.I77I ISL1_ENST00000511384.1_Silent_p.I77I|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 77 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) TGTACGGGATCAAATGCGCCA 0.622000 10 13 0.00010058 0.00010058 1 1 0 SCG2 7857 broad.mit.edu 37 2 224462280 224462280 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr2:224462280G>A ENST00000305409.2 - 2 1953 c.1721C>T c.(1720-1722)cCg>cTg p.P574L NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 574 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.P574Q(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATCATTCTTCGGGGGCCCCAC 0.493000 4 117 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52199070 52199070 + Missense_Mutation SNP C C T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr20:52199070C>T ENST00000371471.2 - 2 721 c.296G>A c.(295-297)cGg>cAg p.R99Q ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q O75362 ZN217_HUMAN zinc finger protein 217 99 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TGCTTCAACCCGAAGAACTGC 0.443000 38 187 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 3 35 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6470639 6470639 + Missense_Mutation SNP C C G TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr11:6470639C>G ENST00000525074.1 - 11 2373 c.1979G>C c.(1978-1980)gGc>gCc p.G660A TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 660 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCATGGGAGCCAAACTTGAA 0.602000 4 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Splice_Site SNP C C T rs55863639 TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr17:7579312C>T ENST00000420246.2 - 4 507 c.375_splice c.e4+1 p.T125_splice TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537000 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) 49 21 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16352371 16352371 + Missense_Mutation SNP C C T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr20:16352371C>T ENST00000354981.2 - 21 3543 c.3386G>A c.(3385-3387)cGc>cAc p.R1129H KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1129 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 ATCCTGAAGGCGTCTTTGGAC 0.443000 9 154 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746794 94746794 + Missense_Mutation SNP C C G TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr8:94746794C>G ENST00000399300.2 - 3 2058 c.1845G>C c.(1843-1845)agG>agC p.R615S RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 615 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGTCCTCCTCCCTAGGGTGCC 0.642000 11 81 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64571946 64571946 + Silent SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr11:64571946G>A ENST00000337652.1 - 10 2211 c.1708C>T c.(1708-1710)Ctg>Ttg p.L570L MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000315422.4_Silent_p.L565L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000394376.1_Silent_p.L570L|MEN1_ENST00000394374.2_Silent_p.L570L|MEN1_ENST00000377321.1_Silent_p.L530L NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 570 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GTGGCCACCAGCAGCTCCTTC 0.577000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 24 178 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72324886 72324886 + Missense_Mutation SNP C C T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr15:72324886C>T ENST00000356056.5 - 3 1356 c.884G>A c.(883-885)cGt>cAt p.R295H MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H|RP11-390D11.1_ENST00000568391.1_RNA NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 295 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTCCCAAAACGACTTGAATT 0.328000 22 44 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 38997768 38997768 + Missense_Mutation SNP C C T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr21:38997768C>T ENST00000400482.3 - 4 1554 c.965G>A c.(964-966)cGa>cAa p.R322Q KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 322 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GTAGGAGCTTCGAGCTTGGCA 0.527000 24 33 0 0 1 0 0 NUDT19 390916 broad.mit.edu 37 19 33183494 33183494 + Missense_Mutation SNP C C G TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr19:33183494C>G ENST00000397061.3 + 1 628 c.628C>G c.(628-630)Cgc>Ggc p.R210G NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 210 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) GGGCACCACTCGCCGCTTTGA 0.677000 3 21 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16276377 16276377 + Silent SNP G G A rs115546382 by1000genomes TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr16:16276377G>A ENST00000205557.7 - 17 2168 c.2139C>T c.(2137-2139)ttC>ttT p.F713F ABCC6_ENST00000574094.1_Intron NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 713 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GCTCCTGCCCGAAGCACACAT 0.567000 26 40 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 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 31 66 0 0 1 0 0 LHFP 10186 broad.mit.edu 37 13 39918104 39918104 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr13:39918104G>A ENST00000379589.3 - 4 1034 c.572C>T c.(571-573)tCg>tTg p.S191L NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 191 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) TTTCTTGCCCGAAAAGCAAGC 0.557000 T HMGA2 lipoma 47 58 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60059749 60059749 + Silent SNP A A G TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr11:60059749A>G ENST00000355131.3 + 3 259 c.36A>G c.(34-36)ccA>ccG p.P12P MS4A4A_ENST00000337908.4_Silent_p.P31P|MS4A4A_ENST00000532114.1_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 31 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 AGGCCATGCCAGGGGCTGGCC 0.473000 12 73 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3700842 3700842 + Missense_Mutation SNP G G C TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr11:3700842G>C ENST00000324932.7 - 31 5435 c.5015C>G c.(5014-5016)tCt>tGt p.S1672C NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1689 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AACAAGCCCAGATGTTTCCCA 0.463000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 26 54 0 0 1 0 0 APOC1P1 0 broad.mit.edu 37 19 45430262 45430262 + RNA SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr19:45430262G>A ENST00000574565.1 + 0 53 NR_028412.1 TCCCGGTCCTGGTGGTGGTTC 0.627000 6 18 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205888009 205888009 + Missense_Mutation SNP C C T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr1:205888009C>T ENST00000367135.3 - 19 2328 c.2215G>A c.(2215-2217)Gca>Aca p.A739T SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 739 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CTAGCATTTGCCTGGGCAAAG 0.522000 OREG0014164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 237 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97403691 97403691 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr2:97403691G>A ENST00000264963.4 - 2 323 c.301C>T c.(301-303)Cgg>Tgg p.R101W LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000537039.1_Intron NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 101 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 CTTACCACCCGGTTCCACAAG 0.483000 6 63 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159277544 159277544 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr1:159277544G>A ENST00000368115.1 + 6 695 c.596G>A c.(595-597)cGt>cAt p.R199H FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 199 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ACAGCTCCGCGTGAGAAGTAC 0.413000 26 123 0 0 1 0 0 OR7A17 26333 broad.mit.edu 37 19 14991465 14991465 + Missense_Mutation SNP A A T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr19:14991465A>T ENST00000327462.2 - 1 799 c.703T>A c.(703-705)Tac>Aac p.Y235N NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) AATGCCTTGTACTTCCCCTGA 0.502000 13 114 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890079 51890079 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr6:51890079G>A ENST00000371117.3 - 32 4804 c.4529C>T c.(4528-4530)gCc>gTc p.A1510V PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1510 IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGCTGTGGTGGCTAACCTCTG 0.473000 61 99 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149505350 149505350 + RNA SNP T T C TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr7:149505350T>C ENST00000378016.2 + 0 8908 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCAGCACCTGTGTCTCTGG 0.607000 4 174 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8115663 8115663 + Missense_Mutation SNP G G C TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr11:8115663G>C ENST00000305253.4 + 5 730 c.489G>C c.(487-489)aaG>aaC p.K163N TUB_ENST00000299506.2_Missense_Mutation_p.K108N|TUB_ENST00000534099.1_Missense_Mutation_p.K114N NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 108 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CTTCAGCCAAGAGAACCAAGG 0.602000 77 173 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354093 28354093 + Silent SNP T T C TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr16:28354093T>C ENST00000532254.1 - 7 1798 c.1113A>G c.(1111-1113)tcA>tcG p.S371S NPIPB6_ENST00000533640.1_Silent_p.S353S nuclear pore complex interacting protein family, member B6 TGGGTTTCGGTGATTGTTCCA 0.557000 5 8 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11123706 11123706 + Missense_Mutation SNP A A G TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr19:11123706A>G ENST00000358026.2 + 16 2640 c.2356A>G c.(2356-2358)Acc>Gcc p.T786A SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 786 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCTGGGGAAGACCATCCAGAC 0.577000 """F, N, Mis""" NSCLC 9 60 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26912593 26912593 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr17:26912593G>A ENST00000321765.5 - 8 2151 c.1819C>T c.(1819-1821)Cgg>Tgg p.R607W NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 607 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding p.R607W(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CTGAATTCCCGCATGGATGCT 0.537000 5 258 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57528588 57528588 + Missense_Mutation SNP G G T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr7:57528588G>T ENST00000420713.1 + 4 533 c.421G>T c.(421-423)Ggt>Tgt p.G141C NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 GCACAAAGGAGGTTATAATTA 0.343000 19 33 2.35188e-11 2.40301e-11 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 6 226 0 0 1 0 0 TSIX 0 broad.mit.edu 37 X 73046569 73046569 + RNA SNP A A T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chrX:73046569A>T ENST00000604411.1 + 0 34530 XIST_ENST00000429829.1_lincRNA NR_003255.2 TAGTCTTGAGATACCTTTTTC 0.517000 6 63 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8117074 8117074 + Missense_Mutation SNP G G C TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr11:8117074G>C ENST00000305253.4 + 6 833 c.592G>C c.(592-594)Gac>Cac p.D198H TUB_ENST00000299506.2_Missense_Mutation_p.D143H|TUB_ENST00000534099.1_Missense_Mutation_p.D149H NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 143 Asp/Glu-rich. phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) ACTGGCAGAAGACAAGTCTGA 0.652000 56 24 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34029205 34029205 + Missense_Mutation SNP C C T TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr21:34029205C>T ENST00000382499.2 - 21 2703 c.2704G>A c.(2704-2706)Gtt>Att p.V902I SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 863 Pro-rich.|RRM. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ATCAGGGCAACGACAGGCCTT 0.343000 11 83 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044141 51044141 + Missense_Mutation SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr22:51044141G>A ENST00000399908.2 + 5 1911 c.1195G>A c.(1195-1197)Ggc>Agc p.G399S MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 665 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCGGTGCCCGGCCCTGCCAA 0.672000 4 28 0 0 1 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805603 20805603 + RNA SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr17:20805603G>A ENST00000577537.1 + 0 787 RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA GGCCTTCTACGCCCATTACTG 0.567000 5 164 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702370 27702370 + Silent SNP G G A TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr10:27702370G>A ENST00000438700.3 - 1 927 c.810C>T c.(808-810)taC>taT p.Y270Y NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 270 spermatid development integral to membrane hedgehog receptor activity p.Y270Y(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCTGCCAGGCGTACAGGATCG 0.627000 7 53 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80880816 80880816 + Frame_Shift_Del DEL A A - TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr9:80880816delA ENST00000376597.4 + 15 1986 c.1842delA c.(1840-1842)ctfs p.L614fs CEP78_ENST00000424347.2_Intron|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000277082.5_Intron NM_001098802.1 NP_001092272.1 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 599 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AAGGAACACTAATGAAGGTAC 0.294 2 4 --- --- --- --- NKPD1 284353 broad.mit.edu 37 19 45656283 45656283 + Frame_Shift_Del DEL C C - TCGA-S9-A7R4-01A-12D-A34J-08 TCGA-S9-A7R4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx f77ca901-4d4e-4546-a3a7-5fa393048ced b8ca7b93-4eed-481e-a278-bd6be09075d6 g.chr19:45656283delC ENST00000317951.4 - 4 1411 c.1412delG c.(1411-1413)gcfs p.G471fs NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000438936.2_Frame_Shift_Del_p.G249fs NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GTTGAGCACGCCCACCACGCG 0.662 2 4 --- --- --- ---