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
CLEC14A	161198	broad.mit.edu	37	14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	uc001wum.1	-	0	841	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	165	C-type lectin.					integral to membrane	sugar binding	p.R165L(2)|p.L164V(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682000													16	52					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	uc002efs.3	-	4	3485	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_uc010vgn.2_Missense_Mutation_p.L946F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1063					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L1063F(4)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627000													3	28					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	uc003stz.3	-	0	247	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	56					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.V56I(3)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488000													9	533					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709152	22709152	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr15:22709152G>T	uc010axw.2	-	10	1245	c.347C>A	c.(346-348)gCg>gAg	p.A116E	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GGCCTGGAGCGCTCCTGCCAC	0.607000													4	76					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	uc003paf.3	+	7	1725	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	405	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.M405V(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478000													33	94					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415634	86415634	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:86415634G>A	uc003uid.3	+	2	1625	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	GRM3_uc010lef.3_Missense_Mutation_p.A174T|GRM3_uc010leg.3_Missense_Mutation_p.A48T|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	176					synaptic transmission	integral to plasma membrane		p.A176T(4)|p.S175S(1)|p.S175R(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)	ATCCACCAGCGCCAAACTCAG	0.552000													6	353					0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97342509	97342509	+	Splice_Site	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:97342509G>T	uc003yht.1	+	11	1344	c.1242_splice	c.e11+1	p.K414_splice	PTDSS1_uc003yhu.1_Splice_Site_p.K268_splice	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	414					phosphatidylserine biosynthetic process	integral to membrane	transferase activity	p.K414N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACCGAGAAAAGGTATGGAAGG	0.473000													4	93					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	uc001mmw.3	+	6	841	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_uc001mms.1_Missense_Mutation_p.K200T|NUCB2_uc001mmt.1_Missense_Mutation_p.K199T|NUCB2_uc001mmv.1_Missense_Mutation_p.K199T|NUCB2_uc009ygz.3_Missense_Mutation_p.K199T	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	199						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding	p.K199T(2)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303000													6	299					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:57566959C>A	uc001snd.3	+	20	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(6)|p.R1057R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	48					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67614065	67614065	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr18:67614065C>G	uc010dqo.3	-	1	734	c.287G>C	c.(286-288)cGg>cCg	p.R96P	CD226_uc002lkm.4_Missense_Mutation_p.R96P|CD226_uc021uli.1_Intron	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	96	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.R96P(2)|p.R96L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGAGGCATTCCGAAAGAAAAG	0.448000													52	108					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869728	151869728	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chrX:151869728G>A	uc022chf.1	+	0	418	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	MAGEA6_uc004ffq.1_Missense_Mutation_p.V140I|MAGEA6_uc004ffr.1_Missense_Mutation_p.V140I	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	140	MAGE.						protein binding	p.V140I(4)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTGTCGTCGGAAATTG	0.527000													4	150					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	uc011lvb.2	-	3	869	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_uc004ayq.3_Missense_Mutation_p.G230E|TBC1D2_uc004ayr.3_Missense_Mutation_p.G12E	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	230						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.G230E(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587000													24	245					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727465	141727465	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:141727465G>A	uc003vwy.3	+	9	1205	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R384H(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTCAGTCGTTACGAATAT	0.453000													8	81					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107674715	107674715	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:107674715C>T	uc010ljo.1	-	30	4840	c.4756G>A	c.(4756-4758)Gca>Aca	p.A1586T	LAMB4_uc003vey.2_Missense_Mutation_p.A1586T|LAMB4_uc010ljp.1_Missense_Mutation_p.A555T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1586	Domain I.				cell adhesion	basement membrane		p.A1586T(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGAGTTTGCCCGTCCTTGA	0.333000													6	295					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	uc002swx.3	+	3	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CNNM4_uc010yuy.2_Missense_Mutation_p.H87N	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	600					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.H600N(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567000													9	94					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:119509656G>A	uc003pym.1	-	10	2075	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	545					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R545W(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413000													6	342					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881419	142881419	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:142881419A>C	uc011ksw.2	+	0	908	c.908A>C	c.(907-909)tAc>tCc	p.Y303S		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	303					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.Y303S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					ATGGCTGCCTACCCTGCCAGC	0.458000													5	24					0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32135028	32135028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:32135028C>A	uc001rks.3	+	3	1553	c.1139C>A	c.(1138-1140)tCa>tAa	p.S380*		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	380								p.S380*(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AATCCAACTTCAAATCAAGTA	0.348000													5	212					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678583	3678583	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr20:3678583G>A	uc002wja.3	-	7	1984	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R662C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	662	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R662C(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTTCATGCGTGGGGAACAG	0.627000													9	97					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976825	16976825	+	RNA	SNP	C	C	A	rs2761525	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:16976825C>A	uc010och.2	+	13		c.2546C>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		taataaaattcatatttttac	0.373000													4	28					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	uc003peh.3	-	3	1191	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	386					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.Y386C(3)|p.G385R(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTTGTCATTGTATCCCCATGT	0.468000													132	299					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	uc003hlb.2	+	71	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3716					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418000													32	238					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973938	46973938	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:46973938G>A	uc002peq.4	-	1	661	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PNMAL1_uc002per.4_Missense_Mutation_p.R119C	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	119								p.R119C(3)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcccaggtgcgcccctcggca	0.582000													19	135					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:145359169T>A	uc021oul.1	+	71	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3037								p.L3037M(14)		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)		GCGTGTTGGCTTGGCTGTTGA	0.458000													9	422					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257158	16257158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:16257158C>T	uc001axk.1	+	10	4627	c.4423C>T	c.(4423-4425)Cga>Tga	p.R1475*	SPEN_uc010obp.1_Nonsense_Mutation_p.R1434*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1475					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.R1475*(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAAATTTTCGAAACAACAA	0.378000													12	172					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	uc001ato.2	+	7	1304	c.911T>G	c.(910-912)tTt>tGt	p.F304C		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	304								p.F304C(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697000													14	38					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46755773	46755773	+	Missense_Mutation	SNP	G	G	A	rs139823108	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:46755773G>A	uc003cqe.1	-	3	1171	c.689C>T	c.(688-690)aCg>aTg	p.T230M	PRSS50_uc021wxe.1_Missense_Mutation_p.T230M|PRSS50_uc003cqf.2_Missense_Mutation_p.T144M	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	230	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.T230M(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACATAGTCCGTGCCAGGCAG	0.602000													4	47					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64173824	64173824	+	Silent	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	uc001srq.1	+	0	188	c.84C>T	c.(82-84)ttC>ttT	p.F28F	TMEM5_uc001srs.1_5'Flank	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	28						integral to plasma membrane		p.F28F(2)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716000													3	29					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658516	210658516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:210658516C>T	uc010zjc.1	+	6	951	c.871C>T	c.(871-873)Cga>Tga	p.R291*	UNC80_uc021vvx.1_Nonsense_Mutation_p.R291*|UNC80_uc002vdj.1_Nonsense_Mutation_p.R291*	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	291						integral to membrane		p.R291*(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGGCTGTCACCGAGGAAACTC	0.488000													40	123					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631337	91631337	+	Silent	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	uc003ulg.3	+	7	2331	c.2106A>G	c.(2104-2106)ctA>ctG	p.L702L	AKAP9_uc003ule.2_Silent_p.L714L|AKAP9_uc003ulf.3_Silent_p.L702L|AKAP9_uc003uli.3_Silent_p.L327L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	714	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289000			T	BRAF	papillary thyroid								3	101					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71718485	71718485	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:71718485C>A	uc002fax.3	-	3	635	c.629G>T	c.(628-630)cGg>cTg	p.R210L	PHLPP2_uc002fav.3_5'Flank|PHLPP2_uc010cgf.3_Missense_Mutation_p.R210L|PHLPP2_uc002fay.1_Missense_Mutation_p.R210L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	210	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R210L(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGAGTATTGCCGTCGCTTCAC	0.473000													3	76					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617681	54617681	+	Missense_Mutation	SNP	A	A	C	rs74396799		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:54617681A>C	uc022adk.1	+	3	857	c.452A>C	c.(451-453)aAc>aCc	p.N151T	VSTM2A_uc010kzf.3_Missense_Mutation_p.N151T	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	151						extracellular region		p.N151T(2)|p.N150T(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTCAATGCCAACAGCCATGCC	0.562000													6	17					0	0	1	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38615739	38615739	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:38615739C>A	uc004abg.4	-	2	425	c.347G>T	c.(346-348)tGt>tTt	p.C116F	ANKRD18A_uc010mme.3_Missense_Mutation_p.C116F	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	116								p.C116F(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						AACGATGGCACAAGCCTCTTC	0.413000													6	13					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9583286	9583286	+	RNA	SNP	A	A	G	rs2429895	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:9583286A>G	uc021qut.1	-	0		c.51T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.A380A(3)									GGATGCCCGCAGCCTGCCGAG	0.672000													4	18					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137485406	137485406	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:137485406G>A	uc003lcf.1	-	22	3256	c.3201C>T	c.(3199-3201)ggC>ggT	p.G1067G		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1067					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.G1067G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATCACACTCGCCTGAAGGGG	0.502000													15	154					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190767	209190767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:209190767C>T	uc002vcz.3	+	19	3390	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	PIKFYVE_uc010fun.1_Nonsense_Mutation_p.R759*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.R1022*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1078					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R1078*(3)|p.R1078R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCTCTACCCGAGATTATTT	0.423000													5	189					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr17:39633889G>A	uc002hws.3	-	5	1144	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	367	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.A367A(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647000													3	57					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303543	5303543	+	Silent	SNP	G	G	A	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	uc003jdl.3	+	18	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q	ADAMTS16_uc003jdk.1_Silent_p.Q984Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	984	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q984Q(3)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677000													4	15					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735045	54735045	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:54735045A>T	uc003pck.3	+	1	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	1								p.M1L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTTGCAAGCATGGAGACCTC	0.378000													19	175					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571051	155571051	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:155571051G>A	uc003fan.4	-	0	1198	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	SLC33A1_uc003fao.2_Missense_Mutation_p.R246W	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	246					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.R246W(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTGAAACCGCAAATATTTG	0.408000													4	98					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20937203	20937203	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:20937203C>T	uc002zsp.3	+	10	1566	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MED15_uc002zsq.3_Missense_Mutation_p.R456W|MED15_uc010gso.3_Missense_Mutation_p.R439W|MED15_uc002zsr.3_Missense_Mutation_p.R430W|MED15_uc011ahs.2_Missense_Mutation_p.R430W|MED15_uc002zss.3_Missense_Mutation_p.R375W|MED15_uc011ahu.2_Missense_Mutation_p.R206W|MED15_uc002zst.3_Missense_Mutation_p.R112W|MED15_uc002zsu.3_Missense_Mutation_p.R101W	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	496	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.R496W(2)|p.R456W(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTGACGGCGCGGACCCCACA	0.602000													7	95					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	uc002ead.1	+	13	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1414	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	p.A1414T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687000													7	14					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51826841	51826841	+	Splice_Site	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	uc001csq.1	-	24	2636	c.2544_splice	c.e24+1	p.A848_splice	EPS15_uc009vyz.1_Splice_Site_p.A714_splice|EPS15_uc001csp.3_Splice_Site_p.A534_splice	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	848	Pro-rich.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358000			T	MLL	ALL								40	128					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:27949564C>T	uc003zqv.1	-	6	1756	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_uc010mjf.1_Missense_Mutation_p.R369Q|LINGO2_uc003zqu.1_Missense_Mutation_p.R369Q|LINGO2_uc022bfc.1_Missense_Mutation_p.R369Q	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	369	LRRCT.					integral to membrane		p.R369Q(6)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547000													14	61					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95140541	95140541	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:95140541C>T	uc003ygh.2	-	17	2551	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	CDH17_uc011lgo.1_Missense_Mutation_p.R557H|CDH17_uc011lgp.1_Missense_Mutation_p.R809H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	809						integral to membrane	calcium ion binding	p.R809H(2)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTTTATGCGGATAAACAC	0.323000													33	84					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:9204125G>A	uc010xkj.2	+	0	205	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	155					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846232	18846232	+	RNA	SNP	A	A	G	rs571744		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:18846232A>G	uc002zoe.3	+	4		c.2594A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CCCTATGTGCACACCCGGAGG	0.607000													3	13					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	uc001xjs.3	+	4	687	c.571G>C	c.(571-573)Gca>Cca	p.A191P		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	191					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.A191P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423000													7	239					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241909	109241909	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:109241909G>A	uc001dvv.4	+	5	1190	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	PRPF38B_uc001dvw.4_Missense_Mutation_p.R192Q|PRPF38B_uc010ouz.2_Missense_Mutation_p.R106Q	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA.	303	Arg-rich.				RNA splicing|mRNA processing	spliceosomal complex		p.R303Q(2)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAACGCCAGCGACTAGAGCGT	0.512000													12	77					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:56043514C>A	uc001nio.1	+	0	400	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000													46	444					0	0	1	0	0
DEFB135	613209	broad.mit.edu	37	8	11841989	11841989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:11841989G>T	uc003wuw.1	+	1	124	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	Homo sapiens defensin, beta 135 (DEFB135), mRNA.	42					defense response to bacterium	extracellular region		p.G42C(2)		endometrium(1)|large_intestine(2)|prostate(1)	4						GCGACTGCAAGGTACTTGCCG	0.383000													4	136					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	uc003ewg.3	+	3	520	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_uc003ewh.3_Missense_Mutation_p.N25T|AGTR1_uc003ewi.3_Missense_Mutation_p.N25T|AGTR1_uc003ewj.3_Missense_Mutation_p.N25T|AGTR1_uc003ewk.3_Missense_Mutation_p.N25T|AGTR1_uc021xfj.1_Missense_Mutation_p.N25T	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	25					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.N25T(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353000													24	168					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	uc002ucx.3	-	19	4075	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_uc002ucy.3_Missense_Mutation_p.L1146I|SCN3A_uc002ucz.3_Missense_Mutation_p.L1146I|SCN3A_uc002uda.1_Missense_Mutation_p.L1015I|SCN3A_uc002udb.1_Missense_Mutation_p.L1015I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343000													7	289					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701513	56701513	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:56701513G>A	uc010ygh.2	-	3	1171	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	391					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R391C(3)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCAAGAAGCGCTTCCGACAG	0.527000													8	98					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	uc003utx.1	+	10	1228	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_uc010lgs.1_Missense_Mutation_p.E146V|STAG3_uc011kjk.1_Missense_Mutation_p.E300V|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E358V(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562000													8	146					0	0	1	0	0
TMOD4	29765	broad.mit.edu	37	1	151146066	151146066	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:151146066C>A	uc001exc.4	-	3	496	c.306G>T	c.(304-306)agG>agT	p.R102S	TMOD4_uc001exb.3_5'Flank|TMOD4_uc001exd.3_Non-coding_Transcript|TMOD4_uc010pct.2_Intron	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	Homo sapiens tropomodulin 4 (muscle) (TMOD4), mRNA.	102					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.R102S(2)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGGATTTCCCTCTTGGGCT	0.547000													4	155					0	0	1	0	0
INTS12	57117	broad.mit.edu	37	4	106607868	106607868	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:106607868A>G	uc003hxw.3	-	6	1043	c.785T>C	c.(784-786)tTt>tCt	p.F262S	INTS12_uc010ilr.3_Missense_Mutation_p.F262S	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	262					snRNA processing	integrator complex	protein binding|zinc ion binding	p.F262S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TGTTCTCTTAAACGCTAGAAA	0.313000													3	132					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61630459	61630459	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:61630459G>A	uc001nsl.1	+	7	1048	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	FADS2_uc001nsj.2_Missense_Mutation_p.V278I|FADS2_uc010rlo.1_Missense_Mutation_p.V269I|FADS2_uc001nsk.3_Missense_Mutation_p.V300I	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	300					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	p.V300I(2)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GGCCTGGGCCGTCAGCTACTA	0.577000													55	130					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88487642	88487642	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:88487642G>A	uc001tar.3	-	27	3558	c.3214C>T	c.(3214-3216)Cgg>Tgg	p.R1072W	CEP290_uc001taq.3_Missense_Mutation_p.R132W|CEP290_uc001tat.3_Missense_Mutation_p.R865W	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1072					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.R1074W(1)|p.R1072W(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCAGCCCGCTGCCTTTCA	0.348000													3	78					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	uc002vtj.4	+	6	572	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_uc010zmj.1_Missense_Mutation_p.L102P|GIGYF2_uc002vtg.2_Missense_Mutation_p.L102P|GIGYF2_uc002vti.4_Missense_Mutation_p.L102P|GIGYF2_uc002vtk.4_Missense_Mutation_p.L102P|GIGYF2_uc002vth.4_Missense_Mutation_p.L102P|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	102					cell death		protein binding	p.L102P(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTGCTGTCCTGCGATTGACA	0.393000													3	78					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	uc001uub.1	+	10	4531	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1435					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding	p.N1435T(4)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	237					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	956989	956989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:956989G>T	uc003gbw.3	-	15	1898	c.1824C>A	c.(1822-1824)agC>agA	p.S608R	DGKQ_uc010ibn.3_Missense_Mutation_p.S595R	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	608	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.S608R(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCCGGAAGCTGCAGAGCA	0.627000													3	49					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	uc004bjj.4	-	1	741	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_uc010mvf.3_Missense_Mutation_p.A110D|TNC_uc022bmj.1_Missense_Mutation_p.A110D	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	110					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.A110D(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587000													64	531					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	uc003mxu.4	+	1	972	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	265					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.G265E(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473000													13	164					0	0	1	0	0
FAM108B1	51104	broad.mit.edu	37	9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:74485071G>A	uc004ail.3	-	2	1177	c.575C>T	c.(574-576)tCt>tTt	p.S192F	FAM108B1_uc004aim.1_Missense_Mutation_p.S192F	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	192						extracellular region	hydrolase activity	p.S192F(2)|p.H191Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						AGTCAGAGGAGAATGAAGAAT	0.408000													74	225					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	uc001swu.3	+	7	860	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_uc009zrv.2_Missense_Mutation_p.R146K|TBC1D15_uc001sww.3_Missense_Mutation_p.R16K|TBC1D15_uc010stt.2_Missense_Mutation_p.R253K|TBC1D15_uc001swv.3_Missense_Mutation_p.R245K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	262							Rab GTPase activator activity|protein binding	p.R262K(2)|p.R262S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368000													5	200					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	uc001wjv.3	-	16	2089	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	673	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R673H(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542000													7	305					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227152757	227152757	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:227152757G>A	uc001hqm.1	+	7	3653	c.234G>A	c.(232-234)gaG>gaA	p.E78E	ADCK3_uc010pvp.1_Silent_p.E41E|ADCK3_uc001hqn.1_Silent_p.E78E|ADCK3_uc009xeq.1_Silent_p.E26E|ADCK3_uc010pvq.1_Intron|ADCK3_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	78					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.E78E(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAAGGGGAGTTCCACTTCT	0.587000													6	57					0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55508479	55508480	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:55508479_55508480insT	uc003dhn.3	-	3	887_888	c.569_570insA	c.(568-570)tacfs	p.Y190fs	WNT5A_uc003dhm.3_Frame_Shift_Ins_p.Y175fs|WNT5A_uc010hmw.3_Frame_Shift_Ins_p.Y175fs|WNT5A_uc010hmx.3_Frame_Shift_Ins_p.Y101fs	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	190					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TGGCAAAGCGGTAGCCATAGTC	0.683													5	11	---	---	---	---					
CCDC39	339829	broad.mit.edu	37	3	180381743	180381743	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	uc010hxe.3	-	1	237	c.122delT	c.(121-123)ttgfs	p.L41fs	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	41					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338													35	141	---	---	---	---					
CTAGE6P	340307	broad.mit.edu	37	7	143454287	143454291	+	Frame_Shift_Del	DEL	TTCTT	-	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:143454287_143454291delTTCTT	uc003wdk.4	-	0	553_557	c.461_465delAAGAA	c.(460-465)aaagaafs	p.K154fs	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	154						integral to membrane											TAGATTTCTCTTCTTTTAAGTCTTT	0.376													2	4	---	---	---	---					
MIR1293	100302220	broad.mit.edu	37	12	50627995	50627995	+	Splice_Site	DEL	T	-	-	rs74548567		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:50627995delT	uc021qxu.1	-	1		c.1_splice	c.e1-1		LIMA1_uc001rwj.4_Intron|LIMA1_uc001rwk.4_Intron|LIMA1_uc010sms.2_Intron|LIMA1_uc010smr.2_Intron					Homo sapiens microRNA 1293 (MIR1293), microRNA.																		CAGAACAACCttttttttttt	0.478													2	4	---	---	---	---					
