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
USH1C	10083	broad.mit.edu	37	11	17531092	17531092	+	Silent	SNP	C	C	G			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr11:17531092C>G	ENST00000005226.7	-	18	1823	c.1824G>C	c.(1822-1824)ccG>ccC	p.P608P	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAACGGATGGCGGGGGAGGGA	0.662000													6	32					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698077	34698077	+	Missense_Mutation	SNP	C	C	T	rs149663215	byFrequency	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:34698077C>T	ENST00000360581.1	+	1	181	c.53C>T	c.(52-54)aCg>aTg	p.T18M	AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.T18M|NPSR1_ENST00000465305.1_Missense_Mutation_p.T18M|NPSR1_ENST00000531252.1_Missense_Mutation_p.T18M|NPSR1_ENST00000381542.1_Missense_Mutation_p.T18M|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381539.3_Missense_Mutation_p.T18M|NPSR1_ENST00000359791.1_Missense_Mutation_p.T18M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	18						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCGGGCAGACGCTGGATTCT	0.542000													18	50					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22956381	22956381	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr15:22956381A>T	ENST00000435939.2	+	1	627	c.325A>T	c.(325-327)Ata>Tta	p.I109L	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	0					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGAGTTTGGCATAACTAATGT	0.532000													10	47					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529392	57529392	+	Missense_Mutation	SNP	A	A	C	rs13235676	by1000genomes	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr7:57529392A>C	ENST00000420713.1	+	4	1337	c.1225A>C	c.(1225-1227)Aaa>Caa	p.K409Q		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAAACCCTACAAATGTGAAGA	0.403000													4	45					0	0	1	0	0
AC007040.8	0	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527000													3	28					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125132009	125132009	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr8:125132009G>A	ENST00000522917.1	+	41	5758	c.5552G>A	c.(5551-5553)cGa>cAa	p.R1851Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1851						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCATCAGCCGAAGGATCGTT	0.453000													7	113					0	0	1	0	0
ARMC4P1	0	broad.mit.edu	37	10	27577615	27577615	+	RNA	SNP	T	T	G	rs11015640	by1000genomes	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr10:27577615T>G	ENST00000576034.1	+	0	505																											GGAAGAGTGCTGAAAAGATTG	0.423000													3	29					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56592023	56592023	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:56592023C>T	ENST00000338222.5	+	1	1998	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	573						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCAAATGCTCCACAGCTGCC	0.517000													12	44					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148624541	148624541	+	Silent	SNP	G	G	A			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr5:148624541G>A	ENST00000506113.1	+	15	1931	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	ABLIM3_ENST00000356541.3_Silent_p.S372S|ABLIM3_ENST00000504238.1_Silent_p.S372S|ABLIM3_ENST00000326685.7_Silent_p.S388S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'UTR|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.S450S|ABLIM3_ENST00000309868.7_Silent_p.S483S|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	483					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATGCTTCGGAGTCTGAGT	0.547000													6	70					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476199	32476199	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr2:32476199A>G	ENST00000404025.2	-	5	1222	c.734T>C	c.(733-735)tTc>tCc	p.F245S	NLRC4_ENST00000402280.1_Missense_Mutation_p.F245S|NLRC4_ENST00000360906.5_Missense_Mutation_p.F245S|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	245	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATCAAGAAGGAAAAGAACCCT	0.483000													16	111					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216353	8216353	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr17:8216353C>T	ENST00000361926.3	+	3	825	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R239C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	239					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R239C(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGGGTCCCCCGTCGGGCCTC	0.706000													10	147					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109943904	109943904	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:109943904C>T	ENST00000218054.4	-	7	780	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	CHRDL1_ENST00000444321.2_Missense_Mutation_p.R195Q|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R196Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R116Q|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R189Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R195Q	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	189					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGCAGGTTGCCGGAAGATATC	0.398000													4	54					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	39					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062729	97062729	+	Nonsense_Mutation	SNP	C	C	T	rs145151490	by1000genomes	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:97062729C>T	ENST00000395395.2	+	5	979	c.889C>T	c.(889-891)Cga>Tga	p.R297*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	297						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGAATGTGGGCGACACTTCAG	0.562000													23	79					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854644	144854644	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr1:144854644C>T	ENST00000369359.4	-	45	7272	c.7234G>A	c.(7234-7236)Gaa>Aaa	p.E2412K	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2276K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2170K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2361K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2276K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2276					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTCCCTTTCTGTTGATTCT	0.478000			T	PDGFRB	MPD								23	152					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	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				9	32					0	0	1	0	0
ARMC4P1	0	broad.mit.edu	37	10	27577640	27577640	+	RNA	SNP	G	G	T	rs3818746	by1000genomes	TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr10:27577640G>T	ENST00000576034.1	+	0	530																											AACTGTTAGCGATAGCTCCTC	0.403000													3	27					0.115264	0.115264	1	1	0
ABCA2	20	broad.mit.edu	37	9	139915257	139915257	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr9:139915257T>C	ENST00000265662.5	-	9	1301	c.1154A>G	c.(1153-1155)gAg>gGg	p.E385G	ABCA2_ENST00000341511.6_Missense_Mutation_p.E385G|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Missense_Mutation_p.E384G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	384					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTGCGCCCTCCTCAGCGGT	0.716000													3	12					0	0	1	0	0
ROCK1P1	0	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													6	5	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													7	139	---	---	---	---					
FTX	0	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-E8-A415-01A-11D-A23M-08	TCGA-E8-A415-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9bfce78-5a18-4eb8-a3d7-d50482815623	ae6a3edd-10a4-4e72-98e3-eb8f21820e0c	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													5	6	---	---	---	---