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
MAGEA6	4105	broad.mit.edu	37	X	151869868	151869868	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chrX:151869868C>T	ENST00000329342.5	+	3	783	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	186	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCTCCTACGATGGCCTGC	0.557000													4	61					0	0	1	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr7:102136604C>T	ENST00000481893.1	-	16	1962	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M					RAS p21 protein activator 4B									p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542000													4	52					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43567862	43567862	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr22:43567862G>A	ENST00000216129.6	-	11	1601	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	513	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTTCATGACCGTGAAGTGCTT	0.587000													3	47					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202700150	202700150	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:202700150G>A	ENST00000367265.3	-	25	5227	c.4063C>T	c.(4063-4065)Ctg>Ttg	p.L1355L	KDM5B_ENST00000367264.2_Silent_p.L1391L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1355					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACCTGGAGCAGCTGGGCTTCC	0.448000													3	39					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825987	31825987	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr20:31825987C>T	ENST00000354297.4	+	3	358	c.287C>T	c.(286-288)aCg>aTg	p.T96M	BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M|BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	96					innate immune response	extracellular region	lipid binding	p.T96M(1)									GGAAAAGTGACGTCAGTGATT	0.537000													21	46					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													5	42					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124370	217124370	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr2:217124370G>A	ENST00000273067.4	-	4	2664	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	300						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTAAAGATGCGGTACACCGAG	0.537000													11	18					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675578	176675578	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:176675578A>G	ENST00000367662.3	+	10	4613	c.3449A>G	c.(3448-3450)aAc>aGc	p.N1150S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1150					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGGTTTCAACTGTGTAGGT	0.423000													8	10					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130197489	130197489	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:130197489C>T	ENST00000342483.5	+	3	632	c.226C>T	c.(226-228)Cta>Tta	p.L76L	ZNF79_ENST00000543471.1_Silent_p.L52L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGCCTTGTCCTACTAGGTAA	0.478000													4	32					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27933767	27933767	+	Silent	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:27933767C>T	ENST00000381271.2	+	1	815	c.504C>T	c.(502-504)ctC>ctT	p.L168L	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		AGTTCCACCTCCTGGGGTCTC	0.672000													21	25					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567013	4567013	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr11:4567013A>G	ENST00000360213.1	+	1	593	c.593A>G	c.(592-594)aAt>aGt	p.N198S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGGTCAATAATGTCTAT	0.512000													6	88					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816717	43816717	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:43816717G>A	ENST00000377564.3	+	6	1216	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.V275I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	275	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGGCATTCCGTCCTCATCGA	0.493000													3	39					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650206	48650206	+	Silent	SNP	C	C	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:48650206C>A	ENST00000352832.5	+	6	1410	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000515765.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000359106.5_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGATCGCCATCTTCCAGG	0.617000													12	33					5.50884e-06	5.50884e-06	1	1	0
ARID2	196528	broad.mit.edu	37	12	46245245	46245245	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:46245245G>A	ENST00000334344.6	+	15	3511	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000422737.1_Silent_p.G964G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1113	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGTGCAGGGGCAAACTCCAG	0.542000			"""N, S, F"""		hepatocellular carcinoma								3	51					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36357265	36357265	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:36357265C>T	ENST00000312412.4	-	9	987	c.988G>A	c.(988-990)Gca>Aca	p.A330T	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						ATAAGCAATGCAGTCTCCCTA	0.378000													5	14					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	62					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29657338	29657338	+	Nonsense_Mutation	SNP	T	T	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29657338T>A	ENST00000358273.4	+	39	6017	c.5634T>A	c.(5632-5634)tgT>tgA	p.C1878*	NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1878					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCTTCTGTGTGCCTTAACTT	0.338000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	33					0	0	1	0	0
AJ271736.10	0	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													3	9					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													5	38					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39026679	39026679	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:39026679G>C	ENST00000355481.4	+	81	11675	c.11544G>C	c.(11542-11544)gaG>gaC	p.E3848D	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3853D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3853					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACAAGGCCGAGGGGCTGGGCA	0.577000													11	10					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10132233	10132233	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:10132233G>A	ENST00000591589.1	+	6	993	c.804G>A	c.(802-804)tcG>tcA	p.S268S	RDH8_ENST00000171214.1_Silent_p.S248S			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	248					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCATCAGCTCGACTCGACCAC	0.632000													3	32					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	59					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20933055	20933055	+	Silent	SNP	G	G	A	rs149998482		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:20933055G>A	ENST00000380249.1	+	30	3724	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	FOCAD_ENST00000338382.6_Silent_p.S1120S|FOCAD_ENST00000605086.1_Silent_p.S556S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1120						integral to membrane	binding										TGATGAAGTCGTTGGATGCCC	0.378000													15	74					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638192	12638192	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:12638192T>C	ENST00000339282.7	-	4	926	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCCTAATCATGTGTCTTTGA	0.388000													19	92					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701000													3	19					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15755112	15755113	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr3:15755112_15755113insT	ENST00000399451.2	-	10	1388_1389	c.1021_1022insA	c.(1021-1023)cccfs	p.P341fs	ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.P374fs|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	341						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTGCAAAGGGGTATTTCCATTC	0.441													16	111	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30545854	30545854	+	Splice_Site	DEL	A	A	-			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr6:30545854delA	ENST00000326195.8	+	4	330	c.216_splice	c.e4-1	p.Q73_splice	ABCF1_ENST00000396515.4_Splice_Site_p.Q73_splice|ABCF1_ENST00000376545.3_Splice_Site_p.Q73_splice	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCTCAGCAGCAAAAAAAAAAG	0.493													9	73	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													2	4	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29576062	29576077	+	Frame_Shift_Del	DEL	GTTCTTCCATGCCATC	GTTCTTCCATGCCATC	-			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29576062_29576077delGTTCTTCCATGCCATC	ENST00000358273.4	+	30	4418_4433	c.4035_4050delGTTCTTCCATGCCATC	c.(4033-4050)aafs	p.KFFHAI1345fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1345	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCT	0.384			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	83	---	---	---	---					
