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 NDST4 64579 broad.mit.edu 37 4 115998001 115998001 + Silent SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr4:115998001C>T uc003ibu.3 - 1 871 c.192G>A c.(190-192)gaG>gaA p.E64E NDST4_uc010imw.3_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 64 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.E64K(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTGTTTTCAGCTCCATTGACC 0.408000 7 69 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582584 120582584 + Silent SNP T T C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr12:120582584T>C uc001txo.3 - 40 5224 c.5211A>G c.(5209-5211)ccA>ccG p.P1737P NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1737 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCACGATTTCTGGCATCAACT 0.517000 58 103 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42821993 42821993 + Nonsense_Mutation SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr19:42821993C>T uc002otk.1 + 11 1085 c.1033C>T c.(1033-1035)Cag>Tag p.Q345* NM_173633 NP_775904 Q8NBT3 TM145_HUMAN Homo sapiens transmembrane protein 145 (TMEM145), mRNA. 345 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TCCTGAGAAGCAGCCTTTTTA 0.597000 6 70 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430333 153430333 + Missense_Mutation SNP G G T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:153430333G>T uc001fbv.1 - 2 326 c.255C>A c.(253-255)gaC>gaA p.D85E NM_002963 NP_002954 P31151 S10A7_HUMAN Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA. 85 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus RAGE receptor binding|calcium ion binding|zinc ion binding p.D85G(1) breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GCTTGTGGTAGTCTGTGGCTA 0.512000 33 55 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15995328 15995328 + Silent SNP G G A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr17:15995328G>A uc002gpo.3 - 21 3134 c.2865C>T c.(2863-2865)agC>agT p.S955S NCOR1_uc002gpn.3_Silent_p.S971S|NCOR1_uc002gpp.1_Silent_p.S862S|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Silent_p.S862S NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 955 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAGCATAGCCGCTCACTGGGG 0.433000 7 86 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110438060 110438060 + Missense_Mutation SNP G G A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr13:110438060G>A uc001vqv.3 - 0 855 c.341C>T c.(340-342)gCc>gTc p.A114V NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN Homo sapiens insulin receptor substrate 2 (IRS2), mRNA. 114 PH. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GGTGTAGAGGGCGATCAGGTA 0.657000 7 9 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144906087 144906087 + Missense_Mutation SNP T T C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:144906087T>C uc021ouh.1 - 18 2848 c.2546A>G c.(2545-2547)cAa>cGa p.Q849R NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q849R|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q915R|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q849R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q1012R|PDE4DIP_uc001eme.1_Intron NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 849 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAAATTTCTTGACCCTGGGA 0.353000 T PDGFRB MPD 10 98 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46314729 46314729 + Missense_Mutation SNP T T C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr4:46314729T>C uc011bzc.1 - 3 507 c.95A>G c.(94-96)tAt>tGt p.Y32C GABRA2_uc003gxc.3_Missense_Mutation_p.Y87C|GABRA2_uc010igc.2_Missense_Mutation_p.Y87C|GABRA2_uc003gxe.3_Missense_Mutation_p.Y87C P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 87 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.Q31K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATCAATTGTATATTCCTGAAA 0.249000 5 24 0 0 1 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812008 30812008 + Splice_Site SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr22:30812008C>T uc003ahu.3 + 5 420 c.315_splice c.e5+1 p.S105_splice SEC14L2_uc003ahq.3_Silent_p.S281S|SEC14L2_uc003ahr.3_Silent_p.S281S|SEC14L2_uc011aky.2_Silent_p.S198S|SEC14L2_uc011akx.2_Silent_p.S227S|SEC14L2_uc003ahs.3_Silent_p.S207S|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_Silent_p.S105S|SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron NM_001204204 NP_001191133 O76054 S14L2_HUMAN Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 3, mRNA. 281 CRAL-TRIO. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) ATGAACACAGCGTGCAGATTT 0.557000 21 53 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110951558 110951558 + Silent SNP A A G TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chrX:110951558A>G uc011msy.2 + 3 788 c.687A>G c.(685-687)ttA>ttG p.L229L ALG13_uc011msw.2_Silent_p.L151L|ALG13_uc011msx.2_Silent_p.L125L|ALG13_uc011msz.2_Silent_p.L151L|ALG13_uc011mta.2_Silent_p.L125L|ALG13_uc011mtb.2_Silent_p.L125L NM_001099922 NP_001093392 Q9NP73 ALG13_HUMAN Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA. 229 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding endometrium(2)|lung(10)|skin(1) 13 TAGGCAGCTTAGGGCTGTTTC 0.453000 9 56 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130282318 130282318 + Silent SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr3:130282318C>T uc010htl.3 + 1 502 c.471C>T c.(469-471)gaC>gaT p.D157D NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 157 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen p.D157D(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGCGGAAAGACGGAGTGAAAA 0.493000 4 39 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20084907 20084907 + Missense_Mutation SNP T T A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr16:20084907T>A uc002dgu.1 - 0 194 c.32A>T c.(31-33)aAc>aTc p.N11I GPR139_uc010vaw.1_5'UTR NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 11 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CAGCGAGCTGTTGGCTGCGAG 0.697000 5 11 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667249 667249 + Missense_Mutation SNP G G A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr12:667249G>A uc001qii.1 + 16 2602 c.2602G>A c.(2602-2604)Gtg>Atg p.V868M B4GALNT3_uc001qik.1_Missense_Mutation_p.V417M NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 868 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CATAGACCTCGTGAAGGTAAA 0.547000 4 49 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63042965 63042965 + Missense_Mutation SNP G G C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:63042965G>C uc001daq.3 - 17 2114 c.2080C>G c.(2080-2082)Cca>Gca p.P694A DOCK7_uc001dan.3_Missense_Mutation_p.P586A|DOCK7_uc001dao.3_Missense_Mutation_p.P586A|DOCK7_uc001dap.3_Missense_Mutation_p.P694A NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 694 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GCCTGTGGTGGTTTTTCCAAT 0.373000 15 36 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128588791 128588791 + Missense_Mutation SNP G G T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr7:128588791G>T uc003vog.3 + 8 1585 c.1464G>T c.(1462-1464)caG>caT p.Q488H IRF5_uc003voh.3_Missense_Mutation_p.Q472H|IRF5_uc010llt.3_Missense_Mutation_p.Q386H|IRF5_uc003voi.3_Missense_Mutation_p.Q472H|IRF5_uc003voj.4_Missense_Mutation_p.Q472H NM_001098629 NP_001092099 Q13568 IRF5_HUMAN Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 5, mRNA. 472 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 AGCGGTTGCAGCCTGTGGCCC 0.597000 39 72 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11618516 11618516 + Splice_Site SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr19:11618516C>T uc002msb.3 - 6 1079 c.945_splice c.e6+1 p.R315_splice ZNF653_uc002mrz.2_5'Flank|ECSIT_uc010dyc.2_Splice_Site_p.G275_splice|ECSIT_uc010dyd.3_Intron|ECSIT_uc010xma.2_Splice_Site_p.R101_splice NM_016581 NP_057665 Q9BQ95 ECSIT_HUMAN Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 315 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TAAGCCCTCACCCTCTCCTCC 0.612000 22 42 0 0 1 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72759553 72759553 + Silent SNP C C A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr17:72759553C>A uc002jlo.3 + 2 874 c.651C>A c.(649-651)tcC>tcA p.S217S SLC9A3R1_uc002jln.1_Non-coding_Transcript NM_004252 NP_004243 O14745 NHRF1_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA. 217 PDZ 2. Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association large_intestine(4) 4 ACGTGGTGTCCGCCATCAGGG 0.622000 7 14 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51637442 51637442 + Frame_Shift_Del DEL C C - TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chrX:51637442delC uc004dpn.3 + 1 232 c.42delC c.(40-42)ttcfs p.F14fs MAGED1_uc004dpm.3_Frame_Shift_Del_p.F14fs|MAGED1_uc004dpo.3_Frame_Shift_Del_p.F14fs|MAGED1_uc011mnx.1_Frame_Shift_Del_p.F14fs NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 0 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TCCTCGGCTTCCAGGTGAGAT 0.657 Multiple Myeloma(10;0.10) OREG0019786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---