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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MUL1 79594 broad.mit.edu 37 1 20827839 20827839 + Missense_Mutation SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr1:20827839C>T uc001bdi.3 - 4 560 c.403G>A c.(403-405)GTG>ATG p.V135M NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 135 Mitochondrial intermembrane (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) GCCACATCCACGCCATCCTCG 0.507 NA 15 101 0 0 0.00499 0 0 BCL10 8915 broad.mit.edu 37 1 85733383 85733383 + Missense_Mutation SNP T T G TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr1:85733383T>G uc001dkz.2 - 4 1334 c.629A>C c.(628-630)GAA>GCA p.E210A NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 210 Missing (in follicular lymphoma). apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) TCCTTCTTCTTCTAACTGTAG 0.423 NSCLC(34;993 1034 12176 32621 50182) NA T IGH@ MALT 4 66 0 0 0.000248 0 0 NTM 50863 broad.mit.edu 37 11 132082022 132082022 + Missense_Mutation SNP G G C TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr11:132082022G>C uc001qgp.2 + 3 1171 c.507G>C c.(505-507)TGG>TGC p.W169C NTM_uc001qgm.2_Missense_Mutation_p.W169C|NTM_uc010sch.1_Missense_Mutation_p.W160C|NTM_uc010sci.1_Missense_Mutation_p.W169C|NTM_uc010scj.1_Missense_Mutation_p.W128C|NTM_uc001qgo.2_Missense_Mutation_p.W169C|NTM_uc001qgq.2_Missense_Mutation_p.W169C|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 169 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 CGGTTACTTGGAGACACATCT 0.433 NA 3 102 0 0 0.004672 0 0 WNK1 65125 broad.mit.edu 37 12 993965 993965 + Missense_Mutation SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr12:993965C>T uc001qio.3 + 19 4502 c.3995C>T c.(3994-3996)ACA>ATA p.T1332I WNK1_uc001qip.3_Missense_Mutation_p.T1085I|WNK1_uc001qir.3_Missense_Mutation_p.T505I NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1332 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACAGGACCAACATTTCCAGTA 0.493 Colon(19;451 567 6672 12618 28860) NA 7 63 0 0 0.001984 0 0 ITGA5 3678 broad.mit.edu 37 12 54799449 54799449 + Missense_Mutation SNP C C T rs141341610 byFrequency TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr12:54799449C>T uc001sga.2 - 11 1083 c.1015G>A c.(1015-1017)GGG>AGG p.G339R ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 339 Potential.|Extracellular (Potential).|FG-GAP 5. angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 ACCACTCACCCATCCCCATTG 0.552 NA 9 62 0 0 0.001855 0 0 SYNE2 23224 broad.mit.edu 37 14 64519395 64519395 + Missense_Mutation SNP A A G TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr14:64519395A>G uc001xgm.2 + 48 8994 c.8764A>G c.(8764-8766)ATT>GTT p.I2922V SYNE2_uc001xgl.2_Missense_Mutation_p.I2922V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2922 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAATCTTAAGATTAGGACCAA 0.348 NA 6 18 0 0 0.001168 0 0 YBX2 51087 broad.mit.edu 37 17 7192945 7192945 + Silent SNP G G A TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr17:7192945G>A uc002gfq.2 - 7 1005 c.948C>T c.(946-948)CCC>CCT p.P316P NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 316 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 GTGGGCGCTGGGGCTCAGGCC 0.721 NA 9 27 0 0 0.006214 0 0 Unknown 0 broad.mit.edu 37 17 43625427 43625427 + Missense_Mutation SNP G G C TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr17:43625427G>C uc002ijh.2 - 1 698 c.577C>G c.(577-579)CCC>GCC p.P193A uc010wjv.1_Intron Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347. NA TCTGTAGTGGGTTCTGGAATG 0.507 NA 27 186 0 0 0.00632 0 0 POTEC 388468 broad.mit.edu 37 18 14524916 14524916 + Missense_Mutation SNP G G C TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr18:14524916G>C uc010dln.2 - 7 1647 c.1193C>G c.(1192-1194)CCA>CGA p.P398R POTEC_uc010xaj.1_Intron NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 398 skin(3) 3 CCATGCCTCTGGCTGGCTATT 0.308 NA 4 61 0 0 0.000248 0 0 DOK6 220164 broad.mit.edu 37 18 67365760 67365760 + Missense_Mutation SNP T T A TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr18:67365760T>A uc002lkl.2 + 5 720 c.530T>A c.(529-531)GTG>GAG p.V177E NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 177 IRS-type PTB. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GTCAAACTGGTGATGTGGCCT 0.473 NA 4 44 0 0 0.000248 0 0 ZNF780A 284323 broad.mit.edu 37 19 40587729 40587729 + Missense_Mutation SNP G G C TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr19:40587729G>C uc002omy.2 - 5 454 c.229C>G c.(229-231)CCA>GCA p.P77A ZNF780A_uc002omw.3_Missense_Mutation_p.P93A|ZNF780A_uc002omz.2_Missense_Mutation_p.P77A|ZNF780A_uc010xvh.1_Missense_Mutation_p.P78A NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CACTTACCTGGATACCGTCTG 0.448 NA 10 87 0 0 0.008291 0 0 CD8B 926 broad.mit.edu 37 2 87085348 87085348 + Missense_Mutation SNP T T G TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr2:87085348T>G uc002srz.2 - 2 285 c.235A>C c.(235-237)ACT>CCT p.T79P RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Missense_Mutation_p.T79P|CD8B_uc002srx.2_Missense_Mutation_p.T79P|CD8B_uc002sry.2_Missense_Mutation_p.T79P|CD8B_uc010fgt.2_Missense_Mutation_p.T79P|CD8B_uc002ssa.2_Missense_Mutation_p.T79P|CD8B_uc010yto.1_Missense_Mutation_p.T79P NM_004931 NP_004922 P10966 CD8B_HUMAN CD8b antigen isoform 5 precursor 79 Ig-like V-type.|Extracellular (Potential). immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding upper_aerodigestive_tract(1)|skin(1) 2 CCGTGGATAGTCCCTTTTGCG 0.557 NA 17 65 0 0 0.00499 0 0 THNSL2 55258 broad.mit.edu 37 2 88472698 88472698 + Missense_Mutation SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr2:88472698C>T uc002ssz.3 + 2 182 c.29C>T c.(28-30)GCC>GTC p.A10V THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.A10V|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.A10V NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 10 threonine biosynthetic process threonine synthase activity ovary(1) 1 AGGGGCGTAGCCCCACGGGTC 0.617 NA 8 88 0 0 0.004482 0 0 PLA2R1 22925 broad.mit.edu 37 2 160862239 160862239 + Silent SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr2:160862239C>T uc002ube.1 - 11 1965 c.1758G>A c.(1756-1758)ACG>ACA p.T586T PLA2R1_uc010zcp.1_Silent_p.T586T|PLA2R1_uc002ubf.2_Silent_p.T586T NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 586 Extracellular (Potential).|C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TGTATTCTCCCGTATCATTTT 0.458 NA 9 83 0 0 0.004482 0 0 CYYR1 116159 broad.mit.edu 37 21 27840918 27840918 + Missense_Mutation SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr21:27840918C>T uc002ymd.2 - 4 689 c.367G>A c.(367-369)GAA>AAA p.E123K CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.E124K NM_052954 NP_443186 Q96J86 CYYR1_HUMAN cysteine and tyrosine-rich 1 protein precursor 123 Cytoplasmic (Potential). integral to membrane 0 GCACAGTATTCCATCTCGTGG 0.507 NA 22 55 0 0 0.00278 0 0 PLXNB2 23654 broad.mit.edu 37 22 50721832 50721832 + Silent SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr22:50721832C>T uc003bkv.3 - 16 2719 c.2613G>A c.(2611-2613)GGG>GGA p.G871G PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 871 Extracellular (Potential).|IPT/TIG 1. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCTCGACACCCCCCGTGAAAG 0.662 NA 4 27 0 0 0.000248 0 0 CRHBP 1393 broad.mit.edu 37 5 76249905 76249905 + Missense_Mutation SNP G G A rs147365557 TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr5:76249905G>A uc003ker.2 + 3 507 c.227G>A c.(226-228)CGG>CAG p.R76Q CRHBP_uc010izx.2_Missense_Mutation_p.R76Q NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 76 female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) ACCGCCGACCGGCCGCAGCTG 0.652 NA 4 96 0 0 0.001984 0 0 GFPT2 9945 broad.mit.edu 37 5 179757728 179757728 + Missense_Mutation SNP G G A TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr5:179757728G>A uc003mlw.1 - 6 604 c.506C>T c.(505-507)ACG>ATG p.T169M NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 169 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CTCGACCAACGTTGAAAACGT 0.388 NA 8 69 0 0 0.00308 0 0 ZAN 7455 broad.mit.edu 37 7 100391747 100391747 + Silent SNP C C T TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr7:100391747C>T uc003uwj.2 + 45 8157 c.7992C>T c.(7990-7992)GGC>GGT p.G2664G ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.G612G NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2664 VWFC 5.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCTAGCTGGGCAGCAGCTTTC 0.642 NA 5 36 0 0 0.000602 0 0 KIAA0427 9811 broad.mit.edu 37 18 46284770 46284771 + Frame_Shift_Ins INS - - C TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr18:46284770_46284771insC uc002ldc.2 + 8 1350_1351 c.1065_1066insC c.(1063-1068)AAGGAAfs p.K355fs KIAA0427_uc002ldd.2_Frame_Shift_Ins_p.K355fs|KIAA0427_uc002lde.3_5'Flank NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 355_356 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GAAGGCTAAAGGAAAAGGTACC 0.515 NA 25 247 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55241679 55241681 + In_Frame_Del DEL AAC AAC - TCGA-55-6980-01A-11D-1945-08 TCGA-55-6980-11A-01D-1945-08 AAC AAC - - AAC AAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cbbf3b76-5a2d-4882-9a93-6ffa043abb59 79e91d69-af03-4bb9-9c1d-d07c81437507 g.chr7:55241679_55241681delAAC uc003tqk.2 + 18 2373_2375 c.2127_2129delAAC c.(2125-2130)GAAACT>GAT p.709_710ET>D EGFR_uc010kzg.1_In_Frame_Del_p.664_665ET>D|EGFR_uc011kco.1_In_Frame_Del_p.656_657ET>D NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 709_710 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCTTGAAGGAAACTGAATTCAAA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 18 58 --- --- --- --- NA NA NA NA NA