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
DEGS1	8560	broad.mit.edu	37	1	224377965	224377965	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:224377965G>T	ENST00000323699.4	+	2	935	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	DEGS1_ENST00000391877.3_Missense_Mutation_p.G257C	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	257					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CTTCAATGTGGGTTATCATAA	0.333000													3	34					0.150653	0.150653	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72962380	72962380	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:72962380T>C	ENST00000261180.4	+	10	2036	c.1940T>C	c.(1939-1941)gTa>gCa	p.V647A	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	647					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTATTGTGGTAGGAAATAGA	0.328000													12	21					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4844199	4844199	+	Translation_Start_Site	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr17:4844199G>A	ENST00000262482.6	+	0	651				RNF167_ENST00000576229.1_Intron|RNF167_ENST00000575111.1_De_novo_Start_OutOfFrame|RNF167_ENST00000572430.1_De_novo_Start_OutOfFrame|RNF167_ENST00000571816.1_De_novo_Start_OutOfFrame|RNF167_ENST00000570492.1_3'UTR	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167						negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						CTTTCCTCCCGCTGCCATGCA	0.672000													3	35					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125472219	125472219	+	Silent	SNP	C	C	G			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:125472219C>G	ENST00000392708.4	+	4	330	c.171C>G	c.(169-171)acC>acG	p.T57T	STT3A_ENST00000529196.1_Silent_p.T57T|STT3A_ENST00000531491.1_5'UTR	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	57					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATCGGACTACCAGGTTCCTGG	0.403000													12	22					0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500429	6500429	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:6500429G>A	ENST00000254584.2	-	4	339	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	ARFIP2_ENST00000423813.2_Missense_Mutation_p.R48W|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R86W|ARFIP2_ENST00000525235.1_Missense_Mutation_p.R86W|ARFIP2_ENST00000445086.2_Intron	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	86					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAATGCCCCGAGCCACCTCA	0.512000													21	25					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24669233	24669233	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:24669233A>G	ENST00000361548.4	+	10	1486	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	GRHL3_ENST00000356046.2_Missense_Mutation_p.K373R|GRHL3_ENST00000350501.5_Missense_Mutation_p.K419R|GRHL3_ENST00000342072.4_Missense_Mutation_p.K326R|GRHL3_ENST00000236255.4_Missense_Mutation_p.K424R	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	419					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TTCCGGAGGAAGGTCAAGTGC	0.642000													25	59					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492720	230492720	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:230492720G>C	ENST00000321327.2	-	4	768	c.769C>G	c.(769-771)Cac>Gac	p.H257D	PGBD5_ENST00000391860.1_Missense_Mutation_p.H112D|PGBD5_ENST00000525115.1_Missense_Mutation_p.H158D			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	158						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TAGAGCCCGTGCGTGGTCTGG	0.627000													15	24					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284626	152284626	+	Silent	SNP	A	A	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:152284626A>T	ENST00000368799.1	-	3	2771	c.2736T>A	c.(2734-2736)cgT>cgA	p.R912R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	912	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCATGGTGACGTGACCCTG	0.572000									Ichthyosis				12	362					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065551	35065551	+	Silent	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr5:35065551G>A	ENST00000382002.5	-	10	1935	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	PRLR_ENST00000342362.5_Silent_p.S402S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.S402S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	503					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.S503S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGGTTTAGCGGAGCCAAAGG	0.517000													4	68					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2473468	2473468	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr20:2473468G>A	ENST00000278772.4	-	5	668	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ZNF343_ENST00000381253.1_Missense_Mutation_p.P61S|ZNF343_ENST00000358413.2_Missense_Mutation_p.P61S|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.P61S	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AATGTAACTGGTACCTACAAA	0.458000													33	41					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173934007	173934007	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:173934007C>T	ENST00000367696.2	-	10	1937	c.1586G>A	c.(1585-1587)aGc>aAc	p.S529N	RC3H1_ENST00000258349.4_Missense_Mutation_p.S529N|RC3H1_ENST00000367694.2_Missense_Mutation_p.S529N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	529					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGCACTACTGCTCAGATGATC	0.398000													26	39					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61645663	61645663	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr18:61645663A>G	ENST00000397985.2	+	2	377	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.M41V|SERPINB8_ENST00000397988.3_Missense_Mutation_p.M41V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	41					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGCCCTGGCCATGGTCTTCAT	0.488000													4	46					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282174	130282174	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr3:130282174G>T	ENST00000358511.6	+	2	358	c.327G>T	c.(325-327)aaG>aaT	p.K109N	COL6A6_ENST00000453409.2_Missense_Mutation_p.K109N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	109	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				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						AGATAGGAAAGGCTCTTCAGG	0.507000													8	14					1.12685e-05	1.22484e-05	1	1	0
ABCA4	24	broad.mit.edu	37	1	94466628	94466628	+	Missense_Mutation	SNP	G	G	A	rs61750648		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr1:94466628G>A	ENST00000370225.3	-	46	6402	c.6316C>T	c.(6316-6318)Cgc>Tgc	p.R2106C	ABCA4_ENST00000535881.1_Missense_Mutation_p.R225C|ABCA4_ENST00000536513.1_Missense_Mutation_p.R376C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2106	ABC transporter 2.		R -> C (in STGD1 and FFM; reduced ATP- binding capacity).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGCATGCGGCGTGCCTGGGGG	0.627000													4	43					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68542856	68542856	+	Missense_Mutation	SNP	A	A	C			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:68542856A>C	ENST00000265641.5	-	13	1657	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	CPT1A_ENST00000376618.2_Missense_Mutation_p.D501E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D501E|CPT1A_ENST00000539743.1_Missense_Mutation_p.D501E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	501					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGCAGTGCCCATCCTCCGCAT	0.463000													27	36					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	24					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422689	26422689	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr22:26422689T>A	ENST00000335473.7	+	43	6999	c.6749T>A	c.(6748-6750)cTc>cAc	p.L2250H	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2250H|MYO18B_ENST00000407587.2_Missense_Mutation_p.L2251H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2250						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCAGCGGCCCTCTCGGAGTTC	0.607000													11	12					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804620	113804620	+	Silent	SNP	C	C	T			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr3:113804620C>T	ENST00000281273.4	+	10	1374	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	QTRTD1_ENST00000479882.1_Silent_p.L250L|QTRTD1_ENST00000485050.1_Silent_p.L385L|QTRTD1_ENST00000493014.1_Silent_p.L267L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	373					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GACCAATGAGCTGCTGGCCGG	0.483000													5	82					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67862435	67862435	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr16:67862435C>A	ENST00000562787.1	-	15	2052	c.1504G>T	c.(1504-1506)Gct>Tct	p.A502S	CENPT_ENST00000440851.2_Missense_Mutation_p.A502S|CENPT_ENST00000219172.3_Missense_Mutation_p.A502S|CENPT_ENST00000564817.1_Missense_Mutation_p.A447S	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	502					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCATGAGCAGCAAATACCTCC	0.552000													6	144					2.7689e-08	3.14647e-08	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32074632	32074635	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr5:32074632_32074635delACAG	ENST00000438447.1	+	18	3808_3811	c.3420_3423delACAG	c.(3418-3423)tcfs	p.SQ1140fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.SQ1140fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1140					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCAGTGGCTCACAGACAGTGAACC	0.593													13	23	---	---	---	---					
ZNF192P1	0	broad.mit.edu	37	6	28134764	28134764	+	RNA	DEL	T	T	-			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr6:28134764delT	ENST00000440790.2	+	0	867					NR_103448.1																						AGCTCAGACCTTATCAAACAT	0.428													2	4	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763		TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(127-132)gggctg>ggGGCTGTGGCTCCgctg	p.43_44GL>GAVAPL		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713													28	24	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													8	2	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG	rs144787206	byFrequency	TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8329-8334)caaaca>caCAGaaca	p.2777_2777Q>HR	EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagca	0.589													14	34	---	---	---	---					
KLF2	10365	broad.mit.edu	37	19	16436140	16436142	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FY-A3YR-01A-11D-A22Z-08	TCGA-FY-A3YR-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72b800ff-8f7d-4938-a51f-6aca6de69748	063b24bf-5298-4453-af26-36a84083a1d7	g.chr19:16436140_16436142delGCC	ENST00000248071.5	+	2	296_298	c.189_191delGCC	c.(187-192)gag>ga	p.EP63del	KLF2_ENST00000592003.1_Intron	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	63	Poly-Pro.				positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CCGCCCCGGAgccgccgccgccg	0.749													2	4	---	---	---	---