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
TCF7L1	83439	broad.mit.edu	37	2	85533408	85533408	+	Missense_Mutation	SNP	A	T	T			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:85533408A>T	uc002soy.3	+	8	1294	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	357					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CATGTTGTATATGAAGGAGAT	0.512													0	9.18E-02	0	0	0	58	22
MAGEE2	139599	broad.mit.edu	37	X	75004811	75004811	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chrX:75004811T>C	uc004ecj.2	-	0	269	c.76A>G	c.(76-78)Ata>Gta	p.I26V		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	26										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGCTTGTATTTCACCTCTG	0.572													0	5.59E-02	0	0	0	65	19
RASAL1	8437	broad.mit.edu	37	12	113541981	113541981	+	Silent	SNP	G	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113541981G>A	uc001tun.2	-	17	2257	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	RASAL1_uc010syp.2_Silent_p.T651T|RASAL1_uc001tul.3_Silent_p.T622T|RASAL1_uc001tum.2_Silent_p.T650T|RASAL1_uc010syq.2_Silent_p.T651T|RASAL1_uc001tuo.4_Silent_p.T651T	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	650	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTGGAGGTAGGTGGTGTGCA	0.697													0	8.09E-02	0	0	0	33	8
ODZ2	57451	broad.mit.edu	37	5	167655023	167655023	+	Missense_Mutation	SNP	T	C	C	rs6859235		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr5:167655023T>C	uc010jjd.3	+	24	5381	c.5381T>C	c.(5380-5382)aTt>aCt	p.I1794T	ODZ2_uc003lzr.4_Missense_Mutation_p.I1564T|ODZ2_uc003lzt.4_Missense_Mutation_p.I1167T|ODZ2_uc010jje.3_Missense_Mutation_p.I1058T	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACCCCCACCATTGGACGCTGC	0.512													0	6.93E-02	0	0	0	31	19
SYNE1	23345	broad.mit.edu	37	6	152590391	152590391	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:152590391C>A	uc021zhb.1	-	96	18827	c.18604G>T	c.(18604-18606)Gtt>Ttt	p.V6202F	SYNE1_uc003qos.4_Missense_Mutation_p.V726F|SYNE1_uc003qot.4_Missense_Mutation_p.V6131F|SYNE1_uc003qou.4_Missense_Mutation_p.V6202F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6202					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTAGGTCAACATCGCTCTCC	0.562										HNSCC(10;0.0054)			1.30E-15	1.44E-01	1.08E-15	0	1	84	28
KIAA0090	23065	broad.mit.edu	37	1	19557814	19557814	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:19557814G>A	uc001bbo.3	-	15	1928	c.1885C>T	c.(1885-1887)Ctc>Ttc	p.L629F	KIAA0090_uc001bbp.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbq.3_Missense_Mutation_p.L628F|KIAA0090_uc001bbr.3_Missense_Mutation_p.L607F	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	629						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ATGACTGGGAGAAGCAAGGAC	0.502													0	2.94E-02	0	0	0	256	4
BOLL	66037	broad.mit.edu	37	2	198640461	198640461	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr2:198640461C>G	uc002uuu.1	-	4	677	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	BOLL_uc002uur.2_Missense_Mutation_p.E100Q|BOLL_uc002uus.2_Missense_Mutation_p.E94Q|BOLL_uc002uut.2_Missense_Mutation_p.E106Q|BOLL_uc010zha.1_Intron	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	94	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TTAAGTTTTTCAGCCtaaaat	0.249													0	6.92E-02	0	0	0	39	10
CLTCL1	8218	broad.mit.edu	37	22	19195776	19195776	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr22:19195776T>C	uc021wle.1	-	21	3563	c.3488A>G	c.(3487-3489)aAg>aGg	p.K1163R	CLTCL1_uc021wld.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlc.1_Missense_Mutation_p.K1163R|CLTCL1_uc021wlf.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agw.1_Missense_Mutation_p.K1163R|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.K123R	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1163	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCACGGCCCTTTTTCCTGGC	0.403			T	?	ALCL								0	1.51E-01	0	0	0	90	3
CHD5	26038	broad.mit.edu	37	1	6194802	6194802	+	Silent	SNP	G	C	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr1:6194802G>C	uc001amb.2	-	18	3099	c.2988C>G	c.(2986-2988)ccC>ccG	p.P996P	CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	996					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAAGAGGTAGGGGTGGTTGC	0.587													0	1.39E-01	0	0	0	195	76
LRRC37A6P	387646	broad.mit.edu	37	10	27538642	27538642	+	Missense_Mutation	SNP	G	C	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr10:27538642G>C	uc001its.2	-	0	2594	c.751C>G	c.(751-753)Caa>Gaa	p.Q251E						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		GTAACCTCTTGATATACTGGA	0.473													0	4.39E-02	0	0	0	98	20
CENPW	387103	broad.mit.edu	37	6	126661490	126661490	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:126661490G>A	uc003qao.3	+	0	238	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	Homo sapiens centromere protein W (CENPW), mRNA.	24						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TTTCTAAAGCGAGTCTTCAAG	0.542													0	1.35E-01	0	0	0	52	26
LGI3	203190	broad.mit.edu	37	8	22009364	22009364	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr8:22009364T>C	uc003xav.3	-	5	933	c.644A>G	c.(643-645)gAg>gGg	p.E215G	LGI3_uc010ltu.3_Missense_Mutation_p.E191G	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	215	LRRCT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCAATCGAACTCCCGCAGCGG	0.647													0	1.39E-01	0	0	0	133	52
TRIM28	10155	broad.mit.edu	37	19	59056853	59056853	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr19:59056853C>A	uc002qtg.1	+	1	691	c.402C>A	c.(400-402)ttC>ttA	p.F134L	TRIM28_uc010eut.1_Intron|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	134	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGAATTATTTCATGCGTGATA	0.552													2.25E-02	2.16E-02	2.16E-02	0	1	216	4
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	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	1.17E-01	0	0	0	82	25
MYLK	4638	broad.mit.edu	37	3	123420311	123420311	+	Silent	SNP	C	T	T			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr3:123420311C>T	uc003ego.3	-	16	2718	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MYLK_uc011bjw.2_Silent_p.Q812Q|MYLK_uc003egp.3_Silent_p.Q743Q|MYLK_uc003egq.3_Silent_p.Q812Q|MYLK_uc003egr.3_Silent_p.Q743Q|MYLK_uc003egs.3_Silent_p.Q636Q|MYLK_uc003egt.3_Silent_p.Q3Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	812	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGAGCTGTTCTGTAGCATCA	0.607													0	7.48E-02	0	0	0	170	32
MDN1	23195	broad.mit.edu	37	6	90384187	90384187	+	Missense_Mutation	SNP	T	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr6:90384187T>A	uc003pnn.1	-	78	12999	c.12883A>T	c.(12883-12885)Atg>Ttg	p.M4295L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4295					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGCACTGCATGGCCAGGTGC	0.652													0	6.92E-02	0	0	0	19	9
DTX1	1840	broad.mit.edu	37	12	113532726	113532726	+	Missense_Mutation	SNP	G	C	C			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr12:113532726G>C	uc001tuk.1	+	5	1696	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	454					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGTGCCTCGTGGCCATGTA	0.657													0	1.39E-01	0	0	0	94	49
SLC4A2	6522	broad.mit.edu	37	7	150773217	150773217	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr7:150773217G>A	uc022apz.1	+	21	4629	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	SLC4A2_uc003wit.4_Missense_Mutation_p.V1197M|SLC4A2_uc011kve.2_Missense_Mutation_p.V1188M|SLC4A2_uc003wiu.4_Missense_Mutation_p.V1183M|AK296065_uc011kvf.2_Silent_p.H76H	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	1197	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCCTCACAGTGCCGCTCCG	0.637													0	1.51E-01	0	0	0	318	4
LOC642929	642929	broad.mit.edu	37	9	43140785	43140785	+	RNA	DEL	A	-	-			TCGA-EL-A3N3-01A-11D-A20C-08	TCGA-EL-A3N3-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654d3ec5-e7cb-464b-bf31-ad618f854ff2	9305168f-f9e0-4aa0-a2a9-709e20edff10	g.chr9:43140785delA	uc004acy.4	-	4		c.737delT								Homo sapiens general transcription factor II, i pseudogene (LOC642929), non-coding RNA.																		GGCAGAGTGGAAACTGCAACT	0.468																		4	2
