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 CLCNKB 1188 broad.mit.edu 37 1 16376374 16376374 + Missense_Mutation SNP A A T TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr1:16376374A>T ENST00000375679.4 + 10 1042 c.931A>T c.(931-933)Agg>Tgg p.R311W CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) TGGCTTCATCAGGAACAATAG 0.607 38 79 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55223567 55223567 + Missense_Mutation SNP G G T TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr7:55223567G>T ENST00000275493.2 + 8 1111 c.934G>T c.(934-936)Ggg>Tgg p.G312W EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 312 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 NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 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) CCGAGCCTGTGGGGCCGACAG 0.607 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 65 61 --- --- --- --- DHTKD1 55526 broad.mit.edu 37 10 12111037 12111037 + Missense_Mutation SNP C C T TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr10:12111037C>T ENST00000263035.4 + 1 67 c.5C>T c.(4-6)gCc>gTc p.A2V NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 2 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GTGAACATGGCCTCTGCTACT 0.697 11 11 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95159250 95159250 + Missense_Mutation SNP C C T TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr10:95159250C>T ENST00000371501.4 - 13 1242 c.1120G>A c.(1120-1122)Gat>Aat p.D374N MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N Q9NZM1 MYOF_HUMAN myoferlin 374 C2 3. 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 AAGGCATCATCCACTGGAAGG 0.338 4 8 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 13716879 13716879 + Missense_Mutation SNP G G A TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr12:13716879G>A ENST00000609686.1 - 13 3502 c.3293C>T c.(3292-3294)tCc>tTc p.S1098F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTCCCTGCGGGACTTGGCCGA 0.622 13 38 --- --- --- --- ALKBH1 8846 broad.mit.edu 37 14 78174327 78174327 + Silent SNP G G A TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr14:78174327G>A ENST00000216489.3 - 1 36 c.21C>T c.(19-21)gcC>gcT p.A7A NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 7 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CAGAGCCCACGGCCGCTGCCA 0.637 23 28 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31197979 31197979 + Silent SNP T T C TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr15:31197979T>C ENST00000362065.4 + 2 1404 c.1113T>C c.(1111-1113)ggT>ggC p.G371G FAN1_ENST00000561594.1_Silent_p.G371G|FAN1_ENST00000561607.1_Silent_p.G371G|FAN1_ENST00000565466.1_Silent_p.G371G NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 371 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 AAACAACCGGTCATCCTTACT 0.463 Direct reversal of damage 8 86 --- --- --- --- NTN5 126147 broad.mit.edu 37 19 49167879 49167879 + Missense_Mutation SNP C C A TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr19:49167879C>A ENST00000270235.4 - 3 872 c.777G>T c.(775-777)tgG>tgT p.W259C SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 259 Laminin EGF-like 2. extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 TAGGGTCCCTCCAGAACCCAG 0.667 3 25 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40141606 40141607 + In_Frame_Ins INS - - GCTTTA TCGA-KK-A59Y-01A-11D-A26M-08 TCGA-KK-A59Y-11A-11D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088 ddec5241-9e83-475b-80aa-fc72dd813f38 g.chr20:40141606_40141607insGCTTTA ENST00000373233.3 - 5 907_908 c.730_731insTAAAGC c.(730-732)cgc>cTAAAGCgc p.243_244insLK CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244insLK|CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279insLK NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 243 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTATTTTCTGCGCTTTACTTGC 0.490 57 243 --- --- --- ---