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
TRIM71	131405	broad.mit.edu	37	3	32932170	32932170	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:32932170G>A	ENST00000383763.4	+	4	1537	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	492					multicellular organismal development	cytoplasm	zinc ion binding	p.D492N(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCACAGGCGATGGCCTCAA	0.587000													27	53					0	0	0.007291	0	0
KIF4B	285643	broad.mit.edu	37	5	154396899	154396899	+	Silent	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr5:154396899C>G	ENST00000435029.4	+	1	3640	c.3480C>G	c.(3478-3480)gtC>gtG	p.V1160V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1160	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.V1160V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTAACCCTGTCTGTGCCACCC	0.532000													28	61					0	0	0.007291	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135827450	135827450	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:135827450A>T	ENST00000250617.6	-	4	1596	c.391T>A	c.(391-393)Tct>Act	p.S131T	ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	131					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S131T(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTGTCTGAGAAGTATTAGCA	0.448000													144	110					0	0	0.003610	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211518	50211518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:50211518G>T	ENST00000002829.3	+	4	791	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.E103*|SEMA3F_ENST00000413852.1_Nonsense_Mutation_p.E35*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	103	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	p.E103*(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCGCATCGAGGAATGCGTGCT	0.627000													19	48					1.10923e-09	1.28354e-09	0.002780	1	0
SNHG14	104472715	broad.mit.edu	37	15	25429470	25429470	+	RNA	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:25429470C>G	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						TGATGAGAACCTTACATTGTT	0.517000													25	302					0	0	0.004656	0	0
NRXN1	9378	broad.mit.edu	37	2	50282123	50282123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr2:50282123G>A	ENST00000404971.1	-	21	5237	c.3898C>T	c.(3898-3900)Cga>Tga	p.R1300*	NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1260*|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1252*|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1252*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1300*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCAACTACTCGACCAAGTCGA	0.328000													9	9					0	0	0.008291	0	0
CA8	767	broad.mit.edu	37	8	61178489	61178489	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:61178489T>C	ENST00000317995.4	-	3	676	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	138					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.M138V(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CTTACCTCCATGGGAAAAGCT	0.363000													17	49					0	0	0.008871	0	0
MROH5	389690	broad.mit.edu	37	8	142487879	142487879	+	RNA	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:142487879C>T	ENST00000430863.1	-	0	1442					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.L454L(1)									AACACACCATCAGACACTGGA	0.617000													16	32					0	0	0.004007	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	140					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237791246	237791246	+	Silent	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:237791246G>T	ENST00000366574.2	+	41	6623	c.6306G>T	c.(6304-6306)ctG>ctT	p.L2102L	RYR2_ENST00000360064.6_Silent_p.L2100L|RYR2_ENST00000542537.1_Silent_p.L2086L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2102	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L2100L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCGGGCCCTGCCAAAGACCT	0.567000													14	44					4.14922e-12	4.94245e-12	0.004007	1	0
NACA	4666	broad.mit.edu	37	12	57112003	57112003	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr12:57112003A>G	ENST00000454682.1	-	3	3592	c.3311T>C	c.(3310-3312)aTg>aCg	p.M1104T	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGCTGGGGGCATGGGGGCCCC	0.662000			T	BCL6	NHL								5	132					0	0	0.000602	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904729	144904729	+	Silent	SNP	C	C	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:144904729C>A	ENST00000370490.1	+	1	5041	c.786C>A	c.(784-786)ctC>ctA	p.L262L	SLITRK2_ENST00000428560.2_Silent_p.L262L|SLITRK2_ENST00000447897.2_Silent_p.L262L|SLITRK2_ENST00000413937.2_Silent_p.L262L|SLITRK2_ENST00000434188.2_Silent_p.L262L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	262	LRRCT 1.					integral to membrane		p.L262L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAAGACCTCTGTCCCAGAA	0.522000													62	44					3.30712e-30	4.25201e-30	0.003610	1	0
RFPL4B	442247	broad.mit.edu	37	6	112671585	112671585	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr6:112671585T>A	ENST00000441065.2	+	3	987	c.675T>A	c.(673-675)aaT>aaA	p.N225K		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	225	B30.2/SPRY.						zinc ion binding	p.N225K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATGTTGACAATAATGTCCTCA	0.468000													25	84					0	0	0.003954	0	0
VPS18	57617	broad.mit.edu	37	15	41194859	41194859	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:41194859G>T	ENST00000220509.5	+	5	2581	c.2242G>T	c.(2242-2244)Gat>Tat	p.D748Y	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	748					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	p.D748Y(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTGAGGAGGATGAGGAATT	0.602000													17	44					1.00905e-13	1.23838e-13	0.008871	1	0
MYO18B	84700	broad.mit.edu	37	22	26351204	26351204	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr22:26351204G>A	ENST00000335473.7	+	39	6280	c.6030G>A	c.(6028-6030)gcG>gcA	p.A2010A	MYO18B_ENST00000536101.1_Silent_p.A2010A|MYO18B_ENST00000407587.2_Silent_p.A2011A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2010	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A2011A(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTTCACAGGCGGCCACCTCCG	0.647000													5	11					0	0	0.001168	0	0
ADCY4	196883	broad.mit.edu	37	14	24798609	24798609	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr14:24798609G>A	ENST00000310677.4	-	10	1461	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R450W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R450W|ADCY4_ENST00000396747.3_Missense_Mutation_p.R143W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	450					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.R450W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCTTTTACCCGTGGATCGATG	0.607000													19	47					0	0	0.003954	0	0
SF1	7536	broad.mit.edu	37	11	64535055	64535055	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:64535055G>A	ENST00000377390.3	-	10	1667	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	SF1_ENST00000377387.1_Missense_Mutation_p.P569S|SF1_ENST00000334944.5_Missense_Mutation_p.P444S|SF1_ENST00000377394.3_Missense_Mutation_p.P444S|SF1_ENST00000422298.2_Missense_Mutation_p.P329S|SF1_ENST00000227503.9_Missense_Mutation_p.P444S|SF1_ENST00000433274.2_Missense_Mutation_p.P418S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	444	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.P444S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATTGGAGGAGGGCCATGGTGC	0.592000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	112					0	0	0.003610	0	0
KANK4	163782	broad.mit.edu	37	1	62739326	62739326	+	Missense_Mutation	SNP	C	C	T	rs142004576		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:62739326C>T	ENST00000371153.4	-	3	1828	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	484								p.E484K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGGACCTGCTCGGGTCCCTGT	0.567000													48	54					0	0	0.003610	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529665	150529665	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:150529665G>A	ENST00000271643.4	+	12	2137	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R634H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R657H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	634	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.R634H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGGCACCCCGCCCAGCCCGG	0.711000													10	42					0	0	0.003163	0	0
UBR1	197131	broad.mit.edu	37	15	43268937	43268937	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:43268937C>G	ENST00000290650.4	-	39	4425	c.4347G>C	c.(4345-4347)caG>caC	p.Q1449H	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1449					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.Q1449H(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TAAGTAGTATCTGAAGCATGT	0.388000													3	144					0	0	0.004672	0	0
HGF	3082	broad.mit.edu	37	7	81332027	81332027	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:81332027A>G	ENST00000222390.5	-	18	2283	c.2057T>C	c.(2056-2058)aTg>aCg	p.M686T	HGF_ENST00000457544.2_Missense_Mutation_p.M681T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	686	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.M686T(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCAAGAACCATTCTCATTTT	0.373000													30	74					0	0	0.001786	0	0
SAAL1	113174	broad.mit.edu	37	11	18108506	18108506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:18108506G>A	ENST00000524803.1	-	9	998	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	SAAL1_ENST00000529318.1_Nonsense_Mutation_p.Q317*|SAAL1_ENST00000300013.4_Nonsense_Mutation_p.Q317*			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	317					acute-phase response	extracellular region	binding	p.Q317*(1)		breast(2)|large_intestine(5)|lung(8)	15						TTCTGTTCTTGAAGAATGATG	0.403000													4	116					0	0	0.000248	0	0
GRM3	2913	broad.mit.edu	37	7	86394780	86394780	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:86394780G>C	ENST00000361669.2	+	2	1418	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.E105Q|GRM3_ENST00000439827.1_Missense_Mutation_p.E107Q|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	107					synaptic transmission	integral to plasma membrane		p.E107Q(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTATGCATTGGAGCAATCACT	0.408000													3	229					0	0	0.000248	0	0
OC90	729330	broad.mit.edu	37	8	133051249	133051249	+	Silent	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:133051249C>T	ENST00000262283.5	-	10	1266	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q	OC90_ENST00000443356.2_Silent_p.Q193Q|OC90_ENST00000603859.1_Silent_p.Q193Q|OC90_ENST00000254627.3_Silent_p.Q193Q			Q02509	OC90_HUMAN	otoconin 90	193	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.Q199Q(1)|p.Q389Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TACCTGGAGTCTGAGCCAGGC	0.537000													57	199					0	0	0.003610	0	0
MYOF	26509	broad.mit.edu	37	10	95113621	95113621	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr10:95113621C>G	ENST00000371501.4	-	32	3550	c.3428G>C	c.(3427-3429)tGc>tCc	p.C1143S	MYOF_ENST00000359263.4_Missense_Mutation_p.C1143S|MYOF_ENST00000358334.5_Missense_Mutation_p.C1130S|MYOF_ENST00000371502.4_Missense_Mutation_p.C1143S			Q9NZM1	MYOF_HUMAN	myoferlin	1143	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.C1143S(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATAGACATAGCAGCGCAGATG	0.353000													47	69					0	0	0.003610	0	0
OC90	729330	broad.mit.edu	37	8	133051317	133051317	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:133051317C>T	ENST00000262283.5	-	10	1198	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	OC90_ENST00000443356.2_Missense_Mutation_p.E171K|OC90_ENST00000603859.1_Missense_Mutation_p.E171K|OC90_ENST00000254627.3_Missense_Mutation_p.E171K			Q02509	OC90_HUMAN	otoconin 90	171	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.E367K(1)|p.E177K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCCAAGCACTCTATGGCAGCC	0.532000													48	125					0	0	0.003610	0	0
AASS	10157	broad.mit.edu	37	7	121717989	121717989	+	Silent	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:121717989C>T	ENST00000393376.1	-	22	2660	c.2565G>A	c.(2563-2565)acG>acA	p.T855T	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.T855T			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	855	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.T855T(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAAGATCAATCGTTTTATGTT	0.413000													153	393					0	0	0.003610	0	0
PLD4	122618	broad.mit.edu	37	14	105395177	105395177	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr14:105395177C>G	ENST00000540372.1	+	4	589	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	PLD4_ENST00000392593.4_Missense_Mutation_p.L126V			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	126					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	p.L126V(1)|p.L109V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GCTGCAGCTGCTGGACACTGC	0.657000													9	37					0	0	0.000978	0	0
SON	6651	broad.mit.edu	37	21	34927023	34927023	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr21:34927023C>A	ENST00000356577.4	+	3	5961	c.5486C>A	c.(5485-5487)tCc>tAc	p.S1829Y	SON_ENST00000300278.4_Missense_Mutation_p.S1829Y|SON_ENST00000381679.4_Missense_Mutation_p.S1829Y|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1829Y	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1829					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.S1829Y(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGTAAGCGTTCCAAATCTTCT	0.418000													36	53					8.16277e-20	1.01721e-19	0.006999	1	0
TAF6	6878	broad.mit.edu	37	7	99711918	99711918	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr7:99711918G>C	ENST00000472509.1	-	1	263	c.86C>G	c.(85-87)tCt>tGt	p.S29C	TAF6_ENST00000453269.2_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000497233.1_Intron			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	644					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGAAGAAAAAGAAAC	0.582000													5	29					0	0	0.000602	0	0
TRMT12	55039	broad.mit.edu	37	8	125464490	125464490	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:125464490G>C	ENST00000328599.3	+	1	1443	c.1322G>C	c.(1321-1323)tGc>tCc	p.C441S	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	441					tRNA processing		methyltransferase activity	p.C441S(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTGGAATGCTGCCCCTGT	0.512000													15	114					0	0	0.003163	0	0
THEG	51298	broad.mit.edu	37	19	362332	362332	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr19:362332G>A	ENST00000342640.4	-	8	1050	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	THEG_ENST00000346878.2_Silent_p.I312I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	336					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.I336I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGAGATGATCCGGGGGC	0.617000													39	59					0	0	0.006999	0	0
TRMT12	55039	broad.mit.edu	37	8	125464156	125464156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:125464156G>T	ENST00000328599.3	+	1	1109	c.988G>T	c.(988-990)Gga>Tga	p.G330*	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	330					tRNA processing		methyltransferase activity	p.G330*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGGATGCTGGAGGCATTTT	0.488000													22	178					5.26018e-13	6.35932e-13	0.001882	1	0
WASH6P	653440	broad.mit.edu	37	X	155252782	155252782	+	RNA	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:155252782A>G	ENST00000285718.7	+	0	733				WASH6P_ENST00000461007.1_RNA														p.S276G(1)									CCTCATGTACAGTGCCGACCT	0.602000													3	10					0	0	0.000602	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947129	101947129	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr4:101947129T>C	ENST00000394854.3	-	14	2142	c.1459A>G	c.(1459-1461)Aga>Gga	p.R487G	PPP3CA_ENST00000512215.1_Missense_Mutation_p.R255G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.R435G|PPP3CA_ENST00000507176.1_Missense_Mutation_p.R389G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.R477G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.R420G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	487	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	p.R487G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATGGCATCTCTGCGAGGCGGC	0.478000													4	226					0	0	0.000248	0	0
HYDIN	54768	broad.mit.edu	37	16	71025246	71025246	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:71025246G>T	ENST00000393567.2	-	25	3989	c.3839C>A	c.(3838-3840)aCg>aAg	p.T1280K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280								p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463000													29	65					1.74807e-11	2.05208e-11	0.002096	1	0
AAMP	14	broad.mit.edu	37	2	219132260	219132260	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr2:219132260G>A	ENST00000248450.4	-	3	521	c.351C>T	c.(349-351)ttC>ttT	p.F117F	AAMP_ENST00000444053.1_Silent_p.F118F|AAMP_ENST00000420660.1_Silent_p.F98F			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	117					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.F117F(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGCCATACGAAGGCTTTGT	0.552000													27	71					0	0	0.005524	0	0
IDI1	3422	broad.mit.edu	37	10	1089975	1089975	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr10:1089975T>A	ENST00000381344.3	-	2	443	c.277A>T	c.(277-279)Aag>Tag	p.K93*	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_Intron	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	36	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	p.K93*(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CAATTCTTCTTGGTCTCAGCT	0.398000													12	198					0	0	0.001368	0	0
ABHD17B	51104	broad.mit.edu	37	9	74481838	74481838	+	Silent	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr9:74481838G>C	ENST00000333421.6	-	4	843	c.732C>G	c.(730-732)ctC>ctG	p.L244L	ABHD17B_ENST00000377041.2_Silent_p.L244L	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B									p.L244L(1)									CAAACAATGCGAGGCCATGTG	0.423000													28	64					0	0	0.004656	0	0
ZNF536	9745	broad.mit.edu	37	19	30936284	30936284	+	Silent	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr19:30936284G>C	ENST00000355537.3	+	2	1962	c.1815G>C	c.(1813-1815)cgG>cgC	p.R605R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R605R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAAGCAGTCGGGATTTTTTGT	0.552000													52	121					0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	94					0	0	0.003080	0	0
PDGFRB	5159	broad.mit.edu	37	5	149511607	149511607	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr5:149511607T>G	ENST00000261799.4	-	8	1647	c.1178A>C	c.(1177-1179)cAc>cCc	p.H393P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	393	Ig-like C2-type 4.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.H393P(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATGGTGTAGTGGCCAGCCTC	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								8	20					0	0	0.008291	0	0
CDH26	60437	broad.mit.edu	37	20	58547105	58547105	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr20:58547105C>T	ENST00000348616.4	+	4	620	c.320C>T	c.(319-321)tCt>tTt	p.S107F	CDH26_ENST00000244047.5_Missense_Mutation_p.S107F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	107	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S107F(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTTGTTTTCTCTAGAAGAT	0.388000													37	102					0	0	0.004289	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				15	31					0	0	0.003163	0	0
USP15	9958	broad.mit.edu	37	12	62785065	62785065	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr12:62785065G>A	ENST00000280377.5	+	16	2147	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	USP15_ENST00000353364.3_Missense_Mutation_p.E668K|USP15_ENST00000393654.3_Missense_Mutation_p.E672K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	697					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E668K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATTATGTACTGAGGATACTTG	0.383000													38	80					0	0	0.006999	0	0
SCO2	9997	broad.mit.edu	37	22	50962600	50962600	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr22:50962600C>T	ENST00000543927.1	-	2	447	c.241G>A	c.(241-243)Gag>Aag	p.E81K	SCO2_ENST00000252785.3_Missense_Mutation_p.E81K|SCO2_ENST00000535425.1_Missense_Mutation_p.E81K|SCO2_ENST00000395693.3_Missense_Mutation_p.E81K	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	81					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	p.E81K(2)		endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTCCTTCTCAGCCCTCAGG	0.692000													18	31					0	0	0.001882	0	0
TLR3	7098	broad.mit.edu	37	4	187003653	187003653	+	Silent	SNP	A	A	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr4:187003653A>G	ENST00000296795.2	+	4	917	c.813A>G	c.(811-813)ctA>ctG	p.L271L	TLR3_ENST00000504367.1_5'UTR|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	271					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.L271L(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTTGGGACTAAAGTGGACAA	0.418000													50	88					0	0	0.003610	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	36					0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11696840	11696840	+	Silent	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr17:11696840G>T	ENST00000262442.3	+	42	8150	c.8082G>T	c.(8080-8082)gtG>gtT	p.V2694V	DNAH9_ENST00000454412.2_Silent_p.V2694V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2694					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V2694V(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCCTCAGTGGAATGTGTGA	0.393000													45	115					3.54909e-21	4.49182e-21	0.002852	1	0
TET1	80312	broad.mit.edu	37	10	70450634	70450634	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr10:70450634C>G	ENST00000373644.4	+	12	5683	c.5474C>G	c.(5473-5475)tCa>tGa	p.S1825*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1825					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.S1825*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTAAAAAGTTCAGACAACACT	0.453000													9	220					0	0	0.004482	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460235	32460235	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:32460235G>A	ENST00000306901.3	+	10	1182	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CHRNA7_ENST00000455693.2_Missense_Mutation_p.R181Q|CHRNA7_ENST00000454250.3_Missense_Mutation_p.R391Q	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	362					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	p.R362Q(1)|p.R272Q(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CACAAGCAGCGGCGCTGCAGC	0.692000													5	38					0	0	0.004990	0	0
LAMC1	3915	broad.mit.edu	37	1	183104244	183104244	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:183104244G>T	ENST00000258341.4	+	24	4324	c.4067G>T	c.(4066-4068)gGa>gTa	p.G1356V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1356	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.G1356V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAAAGAAGGGACGGGATACC	0.502000													16	30					9.16793e-09	1.04592e-08	0.004990	1	0
OC90	729330	broad.mit.edu	37	8	133051064	133051064	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr8:133051064C>T	ENST00000262283.5	-	11	1288	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	OC90_ENST00000443356.2_Missense_Mutation_p.E201K|OC90_ENST00000603859.1_Missense_Mutation_p.E201K|OC90_ENST00000254627.3_Missense_Mutation_p.E201K			Q02509	OC90_HUMAN	otoconin 90	201	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.E397K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTCAAGTCTTCCTTGATGGTT	0.512000													51	129					0	0	0.003610	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200956	23200956	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:23200956G>C	ENST00000300061.2	+	3	725	c.582G>C	c.(580-582)atG>atC	p.M194I		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	194					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.M194I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAAATGTCATGCACATCGAGT	0.512000													63	228					0	0	0.003610	0	0
NRK	203447	broad.mit.edu	37	X	105190394	105190394	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chrX:105190394G>A	ENST00000428173.2	+	26	4597	c.4294G>A	c.(4294-4296)Gat>Aat	p.D1432N	NRK_ENST00000243300.9_Missense_Mutation_p.D1431N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1431	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1431N(1)|p.D1432N(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAGCTCAGCAGATGGATATCA	0.378000										HNSCC(51;0.14)			4	68					0	0	0.000602	0	0
C16orf93	90835	broad.mit.edu	37	16	30768826	30768826	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr16:30768826G>A	ENST00000543610.1	-	9	1928	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Missense_Mutation_p.P388S|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	323								p.P286S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CCTTTACCCGGAGGTAGCTGG	0.597000													105	314					0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997041	62997041	+	Silent	SNP	G	G	A	rs150920552	byFrequency	TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:62997041G>A	ENST00000306494.6	-	1	83	c.84C>T	c.(82-84)aaC>aaT	p.N28N	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	28					transmembrane transport	integral to membrane		p.N28N(2)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ATACTATGACGTTGAACATTA	0.458000													28	75					0	0	0.006320	0	0
HTR3C	170572	broad.mit.edu	37	3	183773963	183773963	+	Splice_Site	SNP	A	A	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr3:183773963A>T	ENST00000318351.1	+	4	313		c.e4-1			NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.?(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCTGATGCAGGTATGGGAC	0.488000													37	44					0	0	0.003755	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr15:92459366G>A	ENST00000318445.6	+	2	538	c.324G>A	c.(322-324)ctG>ctA	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCCGCGCCTGATCGGCTGCG	0.682000													3	12					0	0	0.006214	0	0
STK11	6794	broad.mit.edu	37	19	1221229	1221229	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr19:1221229G>T	ENST00000326873.7	+	6	1925	c.752G>T	c.(751-753)gGt>gTt	p.G251V		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	251	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Y246fs*3(1)|p.G251V(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCACCACGGGTCTGTACCCC	0.592000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			10	13					1.58986e-06	1.7886e-06	0.008291	1	0
SPTB	6710	broad.mit.edu	37	14	65264536	65264536	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr14:65264536G>C	ENST00000389722.3	-	9	1146	c.1093C>G	c.(1093-1095)Cta>Gta	p.L365V	SPTB_ENST00000556626.1_Missense_Mutation_p.L365V|SPTB_ENST00000389720.3_Missense_Mutation_p.L365V|SPTB_ENST00000389721.5_Missense_Mutation_p.L365V|SPTB_ENST00000542895.1_Missense_Mutation_p.L365V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	365					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.L365V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTAAAAAGTAGAACTTCCAGA	0.433000													50	140					0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92526038	92526038	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr11:92526038G>A	ENST00000298047.6	+	8	4734	c.4717G>A	c.(4717-4719)Gcg>Acg	p.A1573T	FAT3_ENST00000409404.2_Missense_Mutation_p.A1573T|FAT3_ENST00000525166.1_Missense_Mutation_p.A1423T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1573	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A1573T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGTATGAAGCGTCTGTGTT	0.438000										TCGA Ovarian(4;0.039)			6	268					0	0	0.004482	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)del	p.E433del	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414													7	126	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773518	151773518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr1:151773518delC	ENST00000368820.3	-	2	2600	c.1663delG	c.(1663-1665)ccfs	p.A555fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	555						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCAAAGGGCAATCAGGCCA	0.567													12	518	---	---	---	---					
NFE2L2	4780	broad.mit.edu	37	2	178098919	178098942	+	In_Frame_Del	DEL	TCGCTGACTGAAGTCAAATACTTC	TCGCTGACTGAAGTCAAATACTTC	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr2:178098919_178098942delTCGCTGACTGAAGTCAAATACTTC	ENST00000397062.3	-	2	657_680	c.103_126delGAAGTATTTGACTTCAGTCAGCGA	c.(103-126)del	p.EVFDFSQR35del	NFE2L2_ENST00000446151.2_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_ENST00000464747.1_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_ENST00000397063.4_In_Frame_Del_p.EVFDFSQR19del|NFE2L2_ENST00000423513.1_In_Frame_Del_p.EVFDFSQR19del	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	35					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V36_F37insSREV(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCTTTCCGTCGCTGACTGAAGTCAAATACTTCTCGACTTACT	0.379			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			7	61	---	---	---	---					
DHX15	1665	broad.mit.edu	37	4	24534645	24534649	+	Frame_Shift_Del	DEL	AGTTG	AGTTG	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr4:24534645_24534649delAGTTG	ENST00000336812.4	-	12	2094_2098	c.1938_1942delCAACT	c.(1936-1944)gatcfs	p.DNF646fs	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	646					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TAGTTAATGAAGTTGTCATAACACC	0.424													33	244	---	---	---	---					
C9orf3	84909	broad.mit.edu	37	9	97522333	97522333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr9:97522333delT	ENST00000375315.2	+	1	268	c.268delT	c.(268-270)tcfs	p.F90fs	C9orf3_ENST00000297979.5_Frame_Shift_Del_p.F90fs|C9orf3_ENST00000277198.2_Frame_Shift_Del_p.F90fs	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	90					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGCAAGGACCTTCTCATCTGA	0.403													80	194	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-05-4422-01A-01D-1265-08	TCGA-05-4422-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5370f18-e8a9-43d8-9eb8-be678ccd4669	75ce6746-09a7-4d8f-9015-b79da0dc9a55	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													4	7	---	---	---	---