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	---	---	---	---
