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
ZNF234	10780	broad.mit.edu	37	19	44652938	44652938	+	Silent	SNP	C	C	T			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr19:44652938C>T	ENST00000426739.2	+	4	288	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF234_ENST00000590748.1_3'UTR|ZNF234_ENST00000592437.1_Silent_p.F10F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GACTGACCTTCAAGGATGTGG	0.483000													5	164					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	14888	14888	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chrM:14888G>A	ENST00000361789.2	+	1	142	c.142G>A	c.(142-144)Gga>Aga	p.48_48insR						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						AAATCACCACAGGACTATTCC	0.512000													79	312					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	60					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	88					0	0	1	0	0
SPATA31C1	0	broad.mit.edu	37	9	90535640	90535640	+	RNA	SNP	C	C	T			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr9:90535640C>T	ENST00000602681.1	+	0	1544																											GAGGATTTGGCGGCTTCTGTC	0.562000													5	195					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29904501	29904501	+	Missense_Mutation	SNP	C	C	G	rs139614127	byFrequency	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:29904501C>G	ENST00000490103.1	-	20	2119	c.1997G>C	c.(1996-1998)aGc>aCc	p.S666T	THOC5_ENST00000397873.2_Missense_Mutation_p.S666T|THOC5_ENST00000397871.1_Missense_Mutation_p.S666T|THOC5_ENST00000397872.1_Missense_Mutation_p.S666T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	666					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTCATCCTGCTAGGACCCCT	0.463000													7	43					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	71					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409977	105409977	+	Silent	SNP	G	G	A			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597000													7	429					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								6	73					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	A	rs143982735	by1000genomes	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr15:102304884G>A	ENST00000561463.1	+	0	12930																											GCGTGGGAACGAGAAGACACT	0.562000													3	20					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98995117	98995117	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr15:98995117T>C	ENST00000558256.1	-	5	556	c.307A>G	c.(307-309)Aca>Gca	p.T103A	FAM169B_ENST00000332908.4_Missense_Mutation_p.T103A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	103										large_intestine(3)|lung(3)|urinary_tract(1)	7						TCTGGGAATGTCTCACAGAAG	0.572000													14	21					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134894338	134894338	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr7:134894338T>C	ENST00000354475.4	-	2	324	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	WDR91_ENST00000344400.5_Missense_Mutation_p.Y98C|WDR91_ENST00000423565.1_Missense_Mutation_p.Y63C	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	98										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGGATTGTGTAGACAAGATA	0.478000													4	102					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811226	156811226	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr1:156811226C>G	ENST00000368195.3	-	21	4018	c.3622G>C	c.(3622-3624)Ggc>Cgc	p.G1208R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1208	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACCCCGCCATCCATGACG	0.607000													5	86					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929																											CGCGTGGGAACGAGAAGACAC	0.562000													3	23					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr1:142713956G>A	ENST00000369381.2	-	0	649																											AAGTTAAAGAGTAACCTGCAC	0.308000													5	34					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	29					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46768939	46768939	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:46768939C>A	ENST00000262738.3	-	25	7599	c.7600G>T	c.(7600-7602)Gtt>Ttt	p.V2534F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2534					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGATGGCAACCACTGTGCAC	0.617000													4	22					0.00909568	0.00909568	1	1	0
IGHG4	0	broad.mit.edu	37	14	106091315	106091315	+	RNA	SNP	C	C	T			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr14:106091315C>T	ENST00000390543.2	-	0	578																											TGCCGTTCAGCCAGTCCTGGT	0.587000													7	564					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	75					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563450	56563450	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr12:56563450C>T	ENST00000394023.3	-	25	2683	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	SMARCC2_ENST00000267064.4_Missense_Mutation_p.E829K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E860K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E860K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	829					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			tcctgcccttcctttggctcc	0.597000													15	21					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296674	39296674	+	Silent	SNP	G	G	A			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr17:39296674G>A	ENST00000345847.4	-	1	65	c.66C>T	c.(64-66)cgC>cgT	p.R22R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	22	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCAGCTGGGGCGGCAGCAGG	0.632000													5	89					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262047	39262047	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr17:39262047A>G	ENST00000391415.1	+	1	464	c.407A>G	c.(406-408)aAg>aGg	p.K136R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	136	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgcaagccccagtgc	0.652000													3	17					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	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				17	41					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33390789	33390789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr19:33390789G>A	ENST00000305768.4	-	16	1937	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	617						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TCACGTTCCTGGGTTATGTTT	0.398000													18	99					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													11	13	---	---	---	---					
FBLN2	2199	broad.mit.edu	37	3	13611894	13611895	+	In_Frame_Ins	INS	-	-	CTGGGC			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr3:13611894_13611895insCTGGGC	ENST00000404922.3	+	2	158_159	c.39_40insCTGGGC	c.(37-42)gctggg>gcCTGGGCtggg	p.12_13insAW	FBLN2_ENST00000492059.1_In_Frame_Ins_p.12_13insAW|FBLN2_ENST00000535798.1_In_Frame_Ins_p.38_39insAW|FBLN2_ENST00000295760.7_In_Frame_Ins_p.12_13insAW	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	12						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGGCTTGCTCTGGGCCTGGC	0.688													9	11	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													5	10	---	---	---	---					
TRGV2	0	broad.mit.edu	37	7	38403092	38403095	+	RNA	DEL	TCTG	TCTG	-			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr7:38403092_38403095delTCTG	ENST00000426402.2	-	0	24_27																											TGACTGAGGATCTGTCTAAGAGGA	0.569													5	2	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			4	9	---	---	---	---					
RP11-464F9.1	0	broad.mit.edu	37	10	75486922	75486923	+	RNA	INS	-	-	A	rs11387949		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr10:75486922_75486923insA	ENST00000399449.3	-	0	427				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							GCTAACTTAGTAAAGTATAAGA	0.386													4	4	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													7	364	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													4	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11062343	11062344	+	RNA	INS	-	-	AG	rs148978863		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr21:11062343_11062344insAG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTAAAAGACAGCAACTTTCA	0.267													3	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11064722	11064722	+	RNA	DEL	A	A	-			TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr21:11064722delA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gccaataggcagtaagaaaat	0.488													6	13	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11069789	11069790	+	RNA	INS	-	-	T	rs141116307		TCGA-DE-A7U5-01A-11D-A397-08	TCGA-DE-A7U5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f52559-79fe-45ee-aeaf-7508d38ff630	d2e7a9e2-4841-4fd9-898f-9115151c6f48	g.chr21:11069789_11069790insT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggagctggagtgggaggtagg	0.376													3	6	---	---	---	---					
