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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
C16orf86	388284	broad.mit.edu	37	16	67701334	67701334	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:67701334C>G	uc002ety.3	+	1	395	c.238C>G	c.(238-240)Ccc>Gcc	p.P80A	C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	80										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAGGAGCGGCCCAAGCCGCA	0.667													0	1.48E-02	0	0	0	19	3
TRPC4	7223	broad.mit.edu	37	13	38357319	38357319	+	Missense_Mutation	SNP	G	T	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr13:38357319G>T	uc010abx.3	-	1	387	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.S51Y|TRPC4_uc001uws.3_Missense_Mutation_p.S51Y|TRPC4_uc010tey.2_Missense_Mutation_p.S51Y|TRPC4_uc010abw.3_Missense_Mutation_p.S51Y|TRPC4_uc010aby.3_Missense_Mutation_p.S51Y	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	51					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCTCTAGGGATTTCTTGAC	0.388													3.57E-03	3.81E-02	3.08E-03	0	1	229	6
AMZ1	155185	broad.mit.edu	37	7	2740235	2740235	+	Silent	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:2740235G>A	uc003smr.1	+	1	511	c.150G>A	c.(148-150)ccG>ccA	p.P50P	AMZ1_uc003sms.1_Silent_p.P50P|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	50							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTACAACCCGCAGAGGACGC	0.662													0	5.82E-02	0	0	0	253	7
ZNF83	55769	broad.mit.edu	37	19	53116715	53116715	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:53116715G>A	uc002pzu.4	-	1	2347	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	ZNF83_uc002pzv.4_Missense_Mutation_p.A368V|ZNF83_uc010eps.3_Missense_Mutation_p.A340V|ZNF83_uc010ept.3_Missense_Mutation_p.A368V|ZNF83_uc010epu.3_Missense_Mutation_p.A368V|ZNF83_uc010epw.3_Missense_Mutation_p.A368V|ZNF83_uc010epv.3_Missense_Mutation_p.A368V|ZNF83_uc010epx.3_Missense_Mutation_p.A340V|ZNF83_uc010epy.3_Missense_Mutation_p.A368V|ZNF83_uc010epz.3_Missense_Mutation_p.A340V|ZNF83_uc010eqb.2_Missense_Mutation_p.A340V|ZNF83_uc021uyx.1_Missense_Mutation_p.A368V	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	368						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTCTCACCGGCATGAATTAT	0.403													0	9.10E-03	0	0	0	182	4
BRDT	676	broad.mit.edu	37	1	92430277	92430277	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:92430277G>C	uc001dol.4	+	3	704	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	BRDT_uc010osz.2_Missense_Mutation_p.E96Q|BRDT_uc001dok.4_Missense_Mutation_p.E96Q|BRDT_uc009wdf.3_Missense_Mutation_p.E23Q|BRDT_uc010otb.2_Intron|BRDT_uc010ota.2_Intron|BRDT_uc001dom.4_Missense_Mutation_p.E96Q	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	96	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAATGTATAGAAGACTTCAA	0.289													0	9.10E-03	0	0	0	77	4
ALKBH1	8846	broad.mit.edu	37	14	78142152	78142152	+	Missense_Mutation	SNP	A	G	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:78142152A>G	uc001xuc.1	-	4	596	c.587T>C	c.(586-588)cTg>cCg	p.L196P		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	196					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	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)		GAGGAAACCCAGGTCAGAAGG	0.448													0	1.15E-01	0	0	0	91	3
NFIC	4782	broad.mit.edu	37	19	3452590	3452590	+	Missense_Mutation	SNP	C	T	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:3452590C>T	uc010xhi.2	+	7	1265	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	NFIC_uc002lxo.3_Missense_Mutation_p.H390Y|NFIC_uc010xhh.2_Missense_Mutation_p.H390Y|NFIC_uc010xhj.2_Missense_Mutation_p.H399Y|NFIC_uc002lxp.3_Missense_Mutation_p.H399Y	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	399					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTACCCACCTCATCTCAACCC	0.657													0	2.94E-02	0	0	0	253	6
ACSM2A	123876	broad.mit.edu	37	16	20491997	20491997	+	Missense_Mutation	SNP	G	A	A	rs141811117	by1000genomes	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:20491997G>A	uc010bwe.3	+	11	1623	c.1384G>A	c.(1384-1386)Gca>Aca	p.A462T	ACSM2A_uc010vax.1_Missense_Mutation_p.A383T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A462T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A462T|ACSM2A_uc010vay.2_Missense_Mutation_p.A383T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A92T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	462					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R461R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TATGGGACGGGCAAATGATAT	0.498													0	9.10E-03	0	0	0	160	4
FAM110C	642273	broad.mit.edu	37	2	45588	45589	+	Missense_Mutation	DNP	GC	CA	CA			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr2:45588_45589GC>CA	uc010yim.2	-	0	1000_1001	c.797_798GC>TG	c.(796-798)ggc>gTG	p.G266V		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	266						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CCTCGTCGTCGCCGCCGCTGTG	0.663													0	1.15E-01	0	0	0	7	3
HKDC1	80201	broad.mit.edu	37	10	71010063	71010063	+	Missense_Mutation	SNP	G	A	A	rs148336562	by1000genomes	TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:71010063G>A	uc001jpf.4	+	10	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_uc010qje.2_Missense_Mutation_p.A393T	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	530					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													0	5.82E-02	0	0	0	277	10
SRCAP	10847	broad.mit.edu	37	16	30715587	30715587	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr16:30715587G>A	uc002dze.1	+	3	642	c.257G>A	c.(256-258)gGc>gAc	p.G86D	SRCAP_uc021tgn.1_Missense_Mutation_p.G86D|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	86					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTAACAAGGGCCCGAAGTGG	0.537													0	6.92E-02	0	0	0	203	9
SRRT	51593	broad.mit.edu	37	7	100482086	100482086	+	Missense_Mutation	SNP	G	C	C			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:100482086G>C	uc003uwy.2	+	6	1122	c.855G>C	c.(853-855)aaG>aaC	p.K285N	SRRT_uc010lhl.1_Missense_Mutation_p.K285N|SRRT_uc003uxa.2_Missense_Mutation_p.K285N|SRRT_uc003uwz.2_Missense_Mutation_p.K285N	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	285	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAGCAAGAAAGAAGAAG	0.592													0	1.15E-01	0	0	0	32	3
GANAB	23193	broad.mit.edu	37	11	62396401	62396401	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr11:62396401G>A	uc001nua.3	-	17	2119	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	GANAB_uc001nub.3_Missense_Mutation_p.R674W|GANAB_uc001nuc.3_Missense_Mutation_p.R577W|GANAB_uc010rma.2_Missense_Mutation_p.R582W|GANAB_uc010rmb.2_Missense_Mutation_p.R560W	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	674					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GCATGTGCCCGGAAGAATGGC	0.542													0	9.10E-03	0	0	0	225	4
AJUBA	84962	broad.mit.edu	37	14	23445885	23445885	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr14:23445885T>C	uc001whz.3	-	2	1518	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	AJUBA_uc001why.3_5'UTR	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.	382	LIM zinc-binding 1.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CACAGAGCCATTGACACTGTA	0.512													0	1.15E-01	0	0	0	139	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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	0.368	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				0	6.95E-02	0	0	0	54	34
NLRP5	126206	broad.mit.edu	37	19	56561809	56561809	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr19:56561809G>A	uc002qmj.3	+	11	2983	c.2983G>A	c.(2983-2985)Gct>Act	p.A995T	NLRP5_uc002qmi.3_Missense_Mutation_p.A976T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	995						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGACACGGCTGGCTGTGG	0.547													0	1.15E-01	0	0	0	48	3
FAM83D	81610	broad.mit.edu	37	20	37576551	37576551	+	Missense_Mutation	SNP	C	G	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:37576551C>G	uc002xjg.3	+	2	815	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	228					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CAGGAAATATCTACTATGCAA	0.428													0	1.48E-02	0	0	0	161	5
BPIFB2	80341	broad.mit.edu	37	20	31600702	31600702	+	Silent	SNP	C	T	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr20:31600702C>T	uc002wyj.3	+	3	491	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	99						extracellular region	lipid binding	p.F99L(1)									ATTTTACTTTCAAGGTCTTTC	0.557													0	2.16E-02	0	0	0	178	6
GRID1	2894	broad.mit.edu	37	10	87407024	87407024	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr10:87407024G>A	uc001kdl.1	-	12	2229	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R281W|AX746544_uc001kdm.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	710						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			0	2.16E-02	0	0	0	434	6
CCM2	83605	broad.mit.edu	37	7	45067320	45067320	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr7:45067320G>A	uc003tms.3	+	0	88	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	CCM2_uc003tmn.3_Intron|CCM2_uc003tmo.3_Intron|CCM2_uc003tmp.3_Intron|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Missense_Mutation_p.R6Q|CCM2_uc011kcc.2_Missense_Mutation_p.R6Q	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	0					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGCTGTCGGCAGAGGAGG	0.433													0	3.84E-02	0	0	0	67	16
FNDC7	163479	broad.mit.edu	37	1	109268557	109268557	+	Missense_Mutation	SNP	T	G	G			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr1:109268557T>G	uc001dvx.3	+	5	1042	c.1042T>G	c.(1042-1044)Ttt>Gtt	p.F348V	FNDC7_uc010ova.2_Missense_Mutation_p.F115V	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	349	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTCACTTATTTTATTAGTGT	0.398													0	4.78E-02	0	0	0	198	9
MYO1E	4643	broad.mit.edu	37	15	59510196	59510196	+	Missense_Mutation	SNP	C	T	T			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr15:59510196C>T	uc002aga.3	-	9	1373	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	334	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity	p.G333R(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCGGATTTGCCTCCCCACTT	0.527													0	5.82E-02	0	0	0	194	8
CACFD1	11094	broad.mit.edu	37	9	136333684	136333684	+	Splice_Site	DEL	G	-	-			TCGA-DJ-A13X-01A-11D-A10S-08	TCGA-DJ-A13X-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95a61a26-f8f9-49b6-8964-4fb915243cb9	1612cb7e-0dfa-41f7-90f8-1ce300ff100a	g.chr9:136333684delG	uc011mdh.1	+	6	656	c.554_splice	c.e6-1	p.G185_splice	CACFD1_uc011mdg.1_Splice_Site_p.K143_splice|CACFD1_uc011mdi.1_Splice_Site_p.G143_splice|CACFD1_uc004cec.2_Splice_Site_p.K101_splice|CACFD1_uc010nan.2_Splice_Site	NM_001242369	NP_001229298	Q9UGQ2	FLOWR_HUMAN	Homo sapiens chromosome 9 open reading frame 7 (C9orf7), transcript variant 3, mRNA.	0						integral to membrane											TCTCTCCCCAGGGGCGATGCG	0.667																		4	2
