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
LAG3	3902	broad.mit.edu	37	12	6884566	6884566	+	Silent	SNP	A	A	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr12:6884566A>G	ENST00000203629.2	+	5	1242	c.909A>G	c.(907-909)ggA>ggG	p.G303G	LAG3_ENST00000441671.2_Silent_p.G303G	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	303	Ig-like C2-type 2.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCCTGGGGGAGGCCCTGACC	0.632000													3	112					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518718	108518718	+	Missense_Mutation	SNP	T	T	C	rs3832903		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr13:108518718T>C	ENST00000375915.2	-	1	365	c.227A>G	c.(226-228)cAg>cGg	p.Q76R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	76	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgccgctgctgctgctg	0.672000													3	79					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383000													3	94					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2641562	2641562	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:2641562G>A	ENST00000380843.4	-	5	421	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	IDH3B_ENST00000380851.5_Missense_Mutation_p.R131W|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	131					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.R131W(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TACCTCAGCCGCATATCATAG	0.567000													3	107					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	49					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6902319	6902319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:6902319G>A	ENST00000251535.6	+	5	643	c.590G>A	c.(589-591)tGg>tAg	p.W197*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	197	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGAGCTCCTGGAACTGCCTA	0.552000													4	152					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238772	57238772	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:57238772G>A	ENST00000537866.1	+	2	1075	c.202G>A	c.(202-204)Gta>Ata	p.V68I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V68I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	68						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAACAGTGCAGTACCCACTGC	0.547000													5	112					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64520608	64520608	+	Silent	SNP	G	G	A	rs149123972		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr11:64520608G>A	ENST00000164139.3	-	12	1853	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	PYGM_ENST00000377432.3_Silent_p.N397N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	485					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGGTGATGCCGTTGGTCTTAT	0.557000													6	374					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057556	9057556	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9057556C>T	ENST00000397910.4	-	3	30093	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9966	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTAGCCCCAGGAGAACTT	0.483000													15	305					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38708970	38708970	+	RNA	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr2:38708970G>T	ENST00000417039.1	-	0	696																											ACCCTGCGTGGCAATCCCTGA	0.512000													10	19					7.03913e-09	7.4982e-09	1	1	0
ROS1	6098	broad.mit.edu	37	6	117686282	117686282	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:117686282G>T	ENST00000368508.3	-	20	3257	c.3059C>A	c.(3058-3060)cCt>cAt	p.P1020H	ROS1_ENST00000368507.3_Missense_Mutation_p.P1015H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1020	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								21	41					3.01185e-09	3.27957e-09	1	1	0
DNM1	1759	broad.mit.edu	37	9	130984562	130984562	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:130984562G>A	ENST00000341179.7	+	7	1028	c.936G>A	c.(934-936)gaG>gaA	p.E312E	DNM1_ENST00000486160.1_Silent_p.E312E|DNM1_ENST00000393594.3_Silent_p.E312E|DNM1_ENST00000372923.3_Silent_p.E312E|DNM1_ENST00000475805.1_Silent_p.E312E	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	312					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGGAGGTGGAGGAATACAAGA	0.612000													3	80					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109249435	109249435	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:109249435A>G	ENST00000392644.4	+	11	1663	c.1496_splice	c.e11+1	p.S499_splice	ARMC2_ENST00000368972.3_Splice_Site_p.S334_splice	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	499							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CAGAATATTCAGGTAGGTAGA	0.423000													3	116					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	86					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47839953	47839953	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:47839953G>C	ENST00000273857.4	-	1	13	c.14C>G	c.(13-15)cCt>cGt	p.P5R	CORIN_ENST00000505909.1_Missense_Mutation_p.P5R|CORIN_ENST00000502252.1_Missense_Mutation_p.P5R|CORIN_ENST00000504584.1_Missense_Mutation_p.P5R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	5					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCGAGGGCAGGAGACTGTTT	0.557000													13	161					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	55					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													5	18					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870709	101870709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:101870709G>T	ENST00000360264.3	+	21	3246	c.3226G>T	c.(3226-3228)Gag>Tag	p.E1076*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.E1009*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E1065*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E963*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E1043*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E907*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1065					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGTTCCAGTGAGTCGGTGAA	0.597000													33	205					4.46736e-08	4.65746e-08	1	1	0
RPL23	9349	broad.mit.edu	37	17	37009327	37009327	+	Silent	SNP	C	C	G			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:37009327C>G	ENST00000479035.2	-	2	177	c.45G>C	c.(43-45)cgG>cgC	p.R15R	RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000394333.1_Silent_p.R15R|RPL23_ENST00000577407.1_Silent_p.R15R|RPL23_ENST00000394332.1_Silent_p.R15R	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	15					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						CCAAGGAAATCCGGAATTTCG	0.478000													9	38					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24202517	24202517	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:24202517G>A	ENST00000303531.7	+	16	1981	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	PRKCB_ENST00000321728.7_Missense_Mutation_p.R610H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	610	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R610H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAACTTGAACGCAAAGAGATC	0.478000													3	119					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259432	122259432	+	Missense_Mutation	SNP	A	A	G	rs143155766	byFrequency	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:122259432A>G	ENST00000462315.1	-	8	1945	c.1652T>C	c.(1651-1653)aTt>aCt	p.I551T	PARP9_ENST00000492382.1_Missense_Mutation_p.I131T|PARP9_ENST00000471785.1_Missense_Mutation_p.I551T|PARP9_ENST00000360356.2_Missense_Mutation_p.I586T|PARP9_ENST00000477522.2_Missense_Mutation_p.I551T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	586					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCTCCTTCAATCTCTAACTC	0.443000													12	23					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67316145	67316145	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr16:67316145G>A	ENST00000360461.5	+	8	3681	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	PLEKHG4_ENST00000427155.2_Silent_p.Q382Q|PLEKHG4_ENST00000450733.1_Silent_p.Q301Q|PLEKHG4_ENST00000379344.3_Silent_p.Q382Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	382					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCTGATGCAGCAGGTGCTAG	0.612000													3	90					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40319135	40319135	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:40319135G>A	ENST00000593685.1	-	6	1077	c.609C>T	c.(607-609)aaC>aaT	p.N203N	DYRK1B_ENST00000323039.5_Silent_p.N203N|DYRK1B_ENST00000597639.1_Silent_p.N203N|DYRK1B_ENST00000430012.2_Silent_p.N203N|DYRK1B_ENST00000348817.3_Silent_p.N203N			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	203	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGAAGTGGGTGTTGCGCAGGA	0.612000													3	30					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387179	10387179	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr8:10387179C>A	ENST00000328655.3	+	2	357	c.317C>A	c.(316-318)gCg>gAg	p.A106E	PRSS55_ENST00000522210.1_Missense_Mutation_p.A106E|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	106	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATTCTCACTGCGGCTCACTGC	0.597000													4	349					0.00909568	0.00909568	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	107					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113098181	113098181	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:113098181G>A	ENST00000393845.2	-	17	2336	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	WDR52_ENST00000295868.2_Missense_Mutation_p.S757L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	757										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCCTGGCTCTGAGTAAAATCC	0.388000													14	41					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87964746	87964746	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:87964746G>T	ENST00000369577.3	+	8	1442	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V462L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCATCCATTGTGTCTTCAAT	0.378000													20	42					2.79863e-10	3.11666e-10	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117386124	117386124	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr7:117386124G>A	ENST00000160373.3	-	13	3469	c.3378C>T	c.(3376-3378)caC>caT	p.H1126H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1126										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTCTGGGCCGTGGAAAATGA	0.393000											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	132					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547000													5	22					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99537117	99537117	+	Missense_Mutation	SNP	G	G	A	rs148190358	by1000genomes	TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr9:99537117G>A	ENST00000375231.1	-	3	732	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	ZNF510_ENST00000223428.4_Missense_Mutation_p.R28W			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGGAGAACCGTAAAGGATAA	0.458000													3	70					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8053317	8053317	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr17:8053317G>A	ENST00000317276.4	-	4	738	c.501C>T	c.(499-501)taC>taT	p.Y167Y	PER1_ENST00000581082.1_Silent_p.Y167Y|PER1_ENST00000354903.5_Silent_p.Y151Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	167					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCCAGTGCGTACTGCAGCG	0.627000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					5	298					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90001231	90001231	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr5:90001231G>A	ENST00000405460.2	+	37	8497	c.8401G>A	c.(8401-8403)Gga>Aga	p.G2801R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2801					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCACCAGCCGGAATCGCCCT	0.428000													7	197					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999778	46999778	+	Missense_Mutation	SNP	G	G	A	rs147795605		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr10:46999778G>A	ENST00000374314.4	+	1	1853	c.898G>A	c.(898-900)Gct>Act	p.A300T	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A300T			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	300										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTGGGGTCCCGCTGGGTTAGT	0.617000													22	76					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													3	55					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	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				40	63					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088247	17088247	+	Silent	SNP	G	G	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr19:17088247G>A	ENST00000443236.1	-	15	1861	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	563						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCTCCCTGACGTAGAAGACCA	0.592000													3	65					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	92					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241665851	241665851	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr1:241665851C>A	ENST00000366560.3	-	8	1166	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	376					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TTGCTTCACACTGAGTAGGGT	0.408000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				31	57					1.42033e-22	1.61852e-22	1	1	0
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaa>ga	p.EE27del	SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719													2	4	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)ttfs	p.F406fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358													7	136	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	415	---	---	---	---					
RP11-305P22.9	0	broad.mit.edu	37	20	61680476	61680477	+	RNA	INS	-	-	TCT	rs13042292		TCGA-EL-A3T1-01A-11D-A22D-08	TCGA-EL-A3T1-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f34fafe8-dc2e-41d2-8805-8ab1edb3d8e3	6d8e45bd-e286-49ea-8fbe-89dd5c1a2a63	g.chr20:61680476_61680477insTCT	ENST00000607802.1	+	0	91				RP11-305P22.5_ENST00000455711.1_lincRNA	NR_033370.1																						cctcttcctcctcctcctcctc	0.604													2	4	---	---	---	---