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
USP46	64854	broad.mit.edu	37	4	53492412	53492412	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:53492412G>C	ENST00000441222.2	-	4	518	c.334C>G	c.(334-336)Ctc>Gtc	p.L112V	USP46_ENST00000508499.1_Missense_Mutation_p.L105V|USP46_ENST00000451218.2_Missense_Mutation_p.L85V	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	112					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTATCAAAGAGATCTGGAAAG	0.343000													6	26					0	0	0.001168	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748876	36748876	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:36748876G>C	ENST00000379881.3	-	7	860	c.772C>G	c.(772-774)Cca>Gca	p.P258A	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P335A|SOHLH2_ENST00000554962.1_Missense_Mutation_p.P335A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATAACGGCTGGAGAGATTTTC	0.368000													19	40					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9049185	9049185	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9049185C>T	ENST00000397910.4	-	5	32649	c.32446G>A	c.(32446-32448)Ggt>Agt	p.G10816S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10818	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGTTCACCAGGGGAGTTT	0.478000													30	82					0	0	0.008361	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79598715	79598715	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:79598715A>G	ENST00000263849.4	+	4	326	c.224A>G	c.(223-225)aAg>aGg	p.K75R	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	75																	GAACCACCAAAGAAACCATCT	0.318000													3	9					0	0	0.004672	0	0
CACNA1C	775	broad.mit.edu	37	12	2690864	2690864	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:2690864G>T	ENST00000399655.1	+	14	2269	c.2004G>T	c.(2002-2004)ctG>ctT	p.L668L	CACNA1C_ENST00000399629.1_Silent_p.L668L|CACNA1C_ENST00000327702.7_Silent_p.L668L|CACNA1C_ENST00000399617.1_Silent_p.L668L|CACNA1C_ENST00000402845.3_Silent_p.L668L|CACNA1C_ENST00000399601.1_Silent_p.L668L|CACNA1C_ENST00000399638.1_Silent_p.L668L|CACNA1C_ENST00000399595.1_Silent_p.L668L|CACNA1C_ENST00000335762.5_Silent_p.L693L|CACNA1C_ENST00000399603.1_Silent_p.L668L|CACNA1C_ENST00000347598.4_Silent_p.L668L|CACNA1C_ENST00000399641.1_Silent_p.L668L|CACNA1C_ENST00000399597.1_Silent_p.L668L|CACNA1C_ENST00000399606.1_Silent_p.L668L|CACNA1C_ENST00000399621.1_Silent_p.L668L|CACNA1C_ENST00000399591.1_Silent_p.L668L|CACNA1C_ENST00000406454.3_Silent_p.L668L|CACNA1C_ENST00000399644.1_Silent_p.L668L|CACNA1C_ENST00000399634.1_Silent_p.L668L|CACNA1C_ENST00000399637.1_Silent_p.L668L|CACNA1C_ENST00000344100.3_Silent_p.L668L|CACNA1C_ENST00000399649.1_Silent_p.L668L|CACNA1C_ENST00000480911.1_Silent_p.L668L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	668					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tctccctcctGGGGATGCAGC	0.537000													4	29					0.00024832	0.000545455	0.000248	1	0
HEATR1	55127	broad.mit.edu	37	1	236729217	236729217	+	Splice_Site	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:236729217A>T	ENST00000366582.3	-	31	4550		c.e31+1		HEATR1_ENST00000366581.2_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCTACGCTTACCTTCTTTTT	0.383000													17	46					0	0	0.006122	0	0
NPR3	4883	broad.mit.edu	37	5	32774814	32774814	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:32774814G>T	ENST00000265074.8	+	4	1403	c.1059_splice	c.e4-1	p.V354_splice	NPR3_ENST00000415685.2_Splice_Site_p.V138_splice|NPR3_ENST00000415167.2_Splice_Site_p.V354_splice|NPR3_ENST00000434067.2_Splice_Site_p.V138_splice	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	354					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCTTTTCAGGTTAACATGTT	0.443000													39	202					1.30998e-17	3.85495e-17	0.005524	1	0
SLC17A4	10050	broad.mit.edu	37	6	25776987	25776987	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:25776987T>C	ENST00000397076.2	+	5	764	c.462T>C	c.(460-462)cgT>cgC	p.R154R	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000377905.4_Intron			Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	374					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGTGAACGTGGGAAGCTCA	0.527000													19	64					0	0	0.006122	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746278	77746278	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:77746278G>T	ENST00000409088.3	-	3	1131	c.717C>A	c.(715-717)aaC>aaA	p.N239K	LRRTM4_ENST00000409884.1_Missense_Mutation_p.N239K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.N239K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N240K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N240K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	239						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGCGAATCCTGTTCCATTGTA	0.448000													3	20					0.004672	0.00973544	0.004672	1	0
VPS8	23355	broad.mit.edu	37	3	184711810	184711810	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:184711810G>A	ENST00000287546.4	+	42	3796	c.3625G>A	c.(3625-3627)Gga>Aga	p.G1209R	VPS8_ENST00000437079.3_Missense_Mutation_p.G1209R|VPS8_ENST00000436792.2_Missense_Mutation_p.G1207R|VPS8_ENST00000446204.2_Missense_Mutation_p.G1117R	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1209							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGAAATCCAGGGACTTATCTT	0.294000													3	7					0	0	0.004672	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142133	133142133	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:133142133C>A	ENST00000388996.4	-	15	2415	c.1995G>T	c.(1993-1995)tcG>tcT	p.S665S	KCNQ3_ENST00000521134.1_Silent_p.S545S|KCNQ3_ENST00000519445.1_Silent_p.S653S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	665					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S665S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCAGCTGGCGAGGAGGTGC	0.532000													17	115					3.32936e-07	8.28044e-07	0.006122	1	0
MPO	4353	broad.mit.edu	37	17	56348175	56348175	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56348175G>C	ENST00000340482.3	-	11	2352	c.2176C>G	c.(2176-2178)Ctg>Gtg	p.L726V	MPO_ENST00000225275.3_Missense_Mutation_p.L694V			P05164	PERM_HUMAN	myeloperoxidase	694					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ATCTGGGCCAGGGCCTGTCGC	0.557000													4	80					0	0	0.000248	0	0
URB2	9816	broad.mit.edu	37	1	229773042	229773042	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:229773042C>T	ENST00000258243.2	+	4	2818	c.2682C>T	c.(2680-2682)atC>atT	p.I894I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	894						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGGAAAGCATCCTGGGGCTTT	0.498000													54	85					0	0	0.003610	0	0
ZFP57	346171	broad.mit.edu	37	6	29641451	29641451	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29641451C>G	ENST00000376883.1	-	6	788	c.377G>C	c.(376-378)aGa>aCa	p.R126T	ZFP57_ENST00000488757.1_Missense_Mutation_p.R146T|ZFP57_ENST00000376881.3_Missense_Mutation_p.R126T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	78					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCCGGCCCCTCTGCATGCAAG	0.557000													25	84					0	0	0.005443	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	44					0	0	0.007413	0	0
PAPPA	5069	broad.mit.edu	37	9	118973930	118973930	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:118973930T>A	ENST00000328252.3	+	4	2006	c.1637T>A	c.(1636-1638)tTg>tAg	p.L546*	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	546	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGCATTGTCTTGAACCCATCT	0.502000													22	64					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179633515	179633515	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179633515C>T	ENST00000589042.1	-	38	9272	c.9048G>A	c.(9046-9048)atG>atA	p.M3016I	TTN_ENST00000342175.6_Missense_Mutation_p.M2970I|TTN_ENST00000591111.1_Missense_Mutation_p.M3016I|TTN_ENST00000342992.6_Missense_Mutation_p.M3016I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M3016I|TTN_ENST00000460472.2_Missense_Mutation_p.M2970I|TTN_ENST00000359218.5_Missense_Mutation_p.M2970I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2755	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGTTCTCATCTGGCACT	0.418000													15	35					0	0	0.004007	0	0
C3orf58	205428	broad.mit.edu	37	3	143691744	143691744	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:143691744C>T	ENST00000315691.3	+	1	1105	c.570C>T	c.(568-570)ggC>ggT	p.G190G	C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	190						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGACTCGGGCAGCTTCCTGC	0.697000													7	13					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32366523	32366523	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:32366523C>T	ENST00000357033.4	-	38	5654	c.5448_splice	c.e38+1	p.M1816_splice	DMD_ENST00000378677.2_Splice_Site_p.M1812_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1816	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACCAATTTACCATATCTTTAT	0.353000													12	37					0	0	0.002450	0	0
POT1	25913	broad.mit.edu	37	7	124482972	124482972	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:124482972A>G	ENST00000357628.3	-	13	1650	c.1052T>C	c.(1051-1053)aTt>aCt	p.I351T	POT1_ENST00000393329.1_Missense_Mutation_p.I220T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	351					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGTTTCAAAATGGCACATAG	0.348000													5	32					0	0	0.001168	0	0
KCNK16	83795	broad.mit.edu	37	6	39290287	39290287	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:39290287C>A	ENST00000425054.2	-	1	29	c.30G>T	c.(28-30)tgG>tgT	p.W10C	KCNK16_ENST00000373229.5_Missense_Mutation_p.W10C|KCNK16_ENST00000373227.4_Missense_Mutation_p.W10C|KCNK16_ENST00000437525.2_Missense_Mutation_p.W10C|KCNK16_ENST00000507712.1_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	10						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCGGCCACCCCAGCAGCTGC	0.657000													9	6					2.17888e-05	5.04479e-05	0.006214	1	0
MCF2	4168	broad.mit.edu	37	X	138708352	138708352	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:138708352C>A	ENST00000520602.1	-	9	1152	c.867_splice	c.e9+1	p.Q289_splice	MCF2_ENST00000519895.1_Splice_Site_p.Q289_splice|MCF2_ENST00000338585.6_Splice_Site_p.Q229_splice|MCF2_ENST00000414978.1_Splice_Site_p.Q289_splice|MCF2_ENST00000536274.1_Splice_Site_p.Q190_splice|MCF2_ENST00000370573.4_Splice_Site_p.Q229_splice|MCF2_ENST00000370576.4_Splice_Site_p.Q229_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q374_splice			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	229					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTAACTGACCTGTTGAAAAT	0.348000													11	67					4.68919e-08	1.18926e-07	0.008291	1	0
C10orf76	79591	broad.mit.edu	37	10	103771498	103771498	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:103771498G>C	ENST00000370033.4	-	11	932	c.813C>G	c.(811-813)ttC>ttG	p.F271L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	271						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTAAAGCAGAGAAAAAACCAC	0.358000													8	32					0	0	0.004482	0	0
AXL	558	broad.mit.edu	37	19	41754717	41754717	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:41754717C>T	ENST00000301178.4	+	14	1893	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	AXL_ENST00000593513.1_Missense_Mutation_p.T300M|AXL_ENST00000359092.3_Missense_Mutation_p.T559M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	568	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGTGAAGACGATGAAGAGT	0.547000													5	27					0	0	0.001168	0	0
RTKN2	219790	broad.mit.edu	37	10	63957982	63957982	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:63957982G>A	ENST00000373789.3	-	12	1611	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	505					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGGAAGGGGAGCTTGTC	0.398000													29	123					0	0	0.005443	0	0
ITGAL	3683	broad.mit.edu	37	16	30518144	30518144	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30518144G>A	ENST00000356798.6	+	21	2655	c.2475G>A	c.(2473-2475)ccG>ccA	p.P825P	ITGAL_ENST00000358164.5_Silent_p.P741P|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTTCCCCCCGGGACTCTCCT	0.602000													32	147					0	0	0.001786	0	0
F10	2159	broad.mit.edu	37	13	113803734	113803734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:113803734C>A	ENST00000375559.3	+	8	1408	c.1370C>A	c.(1369-1371)gCc>gAc	p.A457D	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	457	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGGTCACCGCCTTCCTCAAG	0.572000													19	61					5.35267e-07	1.32273e-06	0.007413	1	0
GUF1	60558	broad.mit.edu	37	4	44680736	44680736	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:44680736G>A	ENST00000281543.5	+	1	291	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	33					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GCCCCGGTCCGCGCCGACCCT	0.692000													5	24					0	0	0.000602	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594270	136594270	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:136594270A>T	ENST00000355849.5	+	6	1171	c.761A>T	c.(760-762)tAc>tTc	p.Y254F	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	254	Pro-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CCAACTGGGTACAGACCTCCA	0.557000													6	56					0	0	0.001168	0	0
ACVRL1	94	broad.mit.edu	37	12	52309931	52309931	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:52309931C>A	ENST00000550683.1	+	7	1303	c.1202C>A	c.(1201-1203)aCg>aAg	p.T401K	ACVRL1_ENST00000388922.4_Missense_Mutation_p.T387K|ACVRL1_ENST00000419526.2_Missense_Mutation_p.T213K	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	387	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGATCCGCACGGACTGCTTT	0.612000													11	54					0.000673444	0.00143037	0.008291	1	0
ADAM7	8756	broad.mit.edu	37	8	24358343	24358343	+	Silent	SNP	C	C	T	rs149009178		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24358343C>T	ENST00000175238.6	+	19	2126	c.2043C>T	c.(2041-2043)gtC>gtT	p.V681V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V681V|ADAM7_ENST00000520720.1_Silent_p.V453V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	681					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGGTTATTGTCGGTATCGGAG	0.378000													16	70					0	0	0.004007	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574714	60574714	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:60574714A>C	ENST00000406854.1	+	2	912	c.358A>C	c.(358-360)Agt>Cgt	p.S120R	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000391611.2_Missense_Mutation_p.S120R|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S120R					pecanex-like 4 (Drosophila)																		TGAATTTACCAGTTGTACTGG	0.388000													8	33					0	0	0.003080	0	0
STAC	6769	broad.mit.edu	37	3	36570191	36570191	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:36570191A>T	ENST00000273183.3	+	9	1224	c.924A>T	c.(922-924)ccA>ccT	p.P308P	STAC_ENST00000457375.2_Silent_p.P247P	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	308	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ATTTTAGGCCAGGAGACATAA	0.294000													5	14					0	0	0.001168	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174635	150174635	+	Missense_Mutation	SNP	C	C	T	rs139453539		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:150174635C>T	ENST00000307271.3	+	5	2339	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R589C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCCCTTCGGCGCATTTTTAA	0.463000													16	83					0	0	0.004007	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768028	140768028	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140768028G>A	ENST00000519479.1	+	1	577	c.577G>A	c.(577-579)Gag>Aag	p.E193K	PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATACCCTGAGATGGTATT	0.443000													16	55					0	0	0.003163	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369426	86369426	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:86369426C>T	ENST00000400286.2	-	2	1816	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	406						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGTTCATAAACGATCCTTCTT	0.338000													9	18					0	0	0.004482	0	0
FMN2	56776	broad.mit.edu	37	1	240371390	240371390	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:240371390G>T	ENST00000319653.9	+	5	3508	c.3278G>T	c.(3277-3279)gGa>gTa	p.G1093V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1093	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.726000													5	22					0.00198382	0.00416764	0.001984	1	0
ATP2C2	9914	broad.mit.edu	37	16	84495694	84495694	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:84495694C>A	ENST00000416219.2	+	27	2857	c.2768C>A	c.(2767-2769)cCg>cAg	p.P923Q	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Missense_Mutation_p.P894Q			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	894					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TACATCCCCCCGCTGCAGAGG	0.617000													19	106					5.35267e-07	1.32273e-06	0.007413	1	0
MYLK3	91807	broad.mit.edu	37	16	46771727	46771727	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46771727C>T	ENST00000394809.4	-	3	1012	c.897G>A	c.(895-897)gaG>gaA	p.E299E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	299					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCGTGCCTTCCTCTAAGGGCT	0.667000													21	116					0	0	0.001523	0	0
FAM45B	55855	broad.mit.edu	37	X	129629927	129629927	+	RNA	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:129629927T>G	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TTGCTCCCCTTGCAAAAGAGG	0.468000													31	130					0	0	0.002836	0	0
SELP	6403	broad.mit.edu	37	1	169565302	169565302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169565302G>T	ENST00000263686.6	-	12	1999	c.1962C>A	c.(1960-1962)taC>taA	p.Y654*	SELP_ENST00000458599.2_Nonsense_Mutation_p.Y470*|SELP_ENST00000367794.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367793.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367791.2_Nonsense_Mutation_p.Y468*|SELP_ENST00000367792.2_Nonsense_Mutation_p.Y470*|SELP_ENST00000367786.2_Nonsense_Mutation_p.Y592*|SELP_ENST00000367788.2_Nonsense_Mutation_p.Y592*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	654	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.Y654Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GATGCCTACAGTACATGGTTC	0.498000													61	238					5.10652e-33	1.59398e-32	0.003610	1	0
ZIC1	7545	broad.mit.edu	37	3	147128596	147128596	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:147128596G>A	ENST00000282928.4	+	1	1426	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	233					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GATCGAGCCCGAGCAGCTGGC	0.592000													9	48					0	0	0.004482	0	0
NLRC5	84166	broad.mit.edu	37	16	57060492	57060492	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:57060492G>T	ENST00000436936.1	+	6	1862	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	NLRC5_ENST00000308149.7_Missense_Mutation_p.R546L|NLRC5_ENST00000539144.1_Missense_Mutation_p.R546L|NLRC5_ENST00000262510.6_Missense_Mutation_p.R546L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	546					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCATTCCCGCTGGGTACAG	0.612000													35	64					3.6622e-26	1.12492e-25	0.003755	1	0
DZIP1L	199221	broad.mit.edu	37	3	137796423	137796423	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:137796423C>T	ENST00000327532.2	-	11	1702	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.R447H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	447						intracellular	zinc ion binding	p.R447P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						AGTGGGGTTACGCCTCAGAGC	0.547000													28	162					0	0	0.007291	0	0
ATP8A1	10396	broad.mit.edu	37	4	42425687	42425687	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:42425687C>T	ENST00000381668.5	-	34	3390	c.3159G>A	c.(3157-3159)atG>atA	p.M1053I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.M1038I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1053					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAACAAGCCCATCCAAAAGA	0.358000													6	16					0	0	0.004482	0	0
MAGEA5	4104	broad.mit.edu	37	X	151284231	151284231	+	RNA	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:151284231C>T	ENST00000509345.2	-	0	180																											CAGCCTGTCCCCTGAGAACCT	0.552000													4	23					0	0	0.000248	0	0
PEG3	5178	broad.mit.edu	37	19	57326339	57326339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:57326339G>T	ENST00000326441.9	-	10	3834	c.3471C>A	c.(3469-3471)taC>taA	p.Y1157*	PEG3_ENST00000423103.2_Nonsense_Mutation_p.Y1157*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Y1033*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Y1031*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1157					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCTCCAGTGTAATCTCTCT	0.448000													27	111					1.74197e-06	4.26369e-06	0.006320	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58009731	58009731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:58009731C>T	ENST00000286494.4	+	13	1811	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P490S	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	451	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCTGCAGACCCTGCTATCAG	0.592000													25	105					0	0	0.003954	0	0
INHBB	3625	broad.mit.edu	37	2	121107420	121107420	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:121107420C>A	ENST00000295228.3	+	2	1240	c.1194C>A	c.(1192-1194)aaC>aaA	p.N398K		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	398					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACGTGCCCAACATGATTGTGG	0.632000													3	19					2.56e-06	6.20679e-06	0.000248	1	0
AZGP1	563	broad.mit.edu	37	7	99565930	99565930	+	Nonsense_Mutation	SNP	C	C	T	rs145427176		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99565930C>T	ENST00000411734.1	-	3	457	c.452G>A	c.(451-453)tGg>tAg	p.W151*	AZGP1_ENST00000292401.4_Nonsense_Mutation_p.W154*			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	154					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.W154S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAAGGGGACCCAGGCTGGGAT	0.507000													49	274					0	0	0.003610	0	0
LRRN1	57633	broad.mit.edu	37	3	3888298	3888298	+	Missense_Mutation	SNP	G	G	A	rs75344244		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:3888298G>A	ENST00000319331.3	+	2	2734	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	658						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGATTTAAGAGAAAAAACTAC	0.423000													19	60					0	0	0.006122	0	0
POTEC	388468	broad.mit.edu	37	18	14537933	14537933	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:14537933A>T	ENST00000358970.5	-	3	676	c.677T>A	c.(676-678)cTg>cAg	p.L226Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	226										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCCATGTTCCAGCAACATTAA	0.383000													10	95					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9012852	9012852	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9012852G>T	ENST00000397910.4	-	34	38795	c.38592C>A	c.(38590-38592)acC>acA	p.T12864T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12866	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGCAGGTTGGTGATGGTGA	0.547000													7	139					0.000274275	0.000599054	0.004482	1	0
EGFLAM	133584	broad.mit.edu	37	5	38427334	38427334	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427334C>T	ENST00000322350.5	+	14	2380	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	EGFLAM_ENST00000354891.3_Silent_p.G678G|EGFLAM_ENST00000397202.2_Silent_p.G44G|EGFLAM_ENST00000336740.6_Silent_p.G444G|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	678	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTGACTGTGGCTCTGGGACCG	0.507000													27	230					0	0	0.006320	0	0
MYH8	4626	broad.mit.edu	37	17	10318851	10318851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:10318851G>A	ENST00000403437.2	-	7	680	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	196	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAAAGTATTGGATGACACGC	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				39	55					0	0	0.008740	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153631469	153631469	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153631469G>T	ENST00000369809.1	-	9	1217	c.588C>A	c.(586-588)gaC>gaA	p.D196E	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.D196E	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	196					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCAGCTTGTCCAGGCGCT	0.622000													22	67					6.44725e-10	1.73805e-09	0.002299	1	0
VEGFA	7422	broad.mit.edu	37	6	43749750	43749750	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:43749750G>A	ENST00000372067.3	+	6	1514	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	VEGFA_ENST00000417285.2_Silent_p.T340T|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000230480.6_Silent_p.T132T|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000520948.1_Silent_p.T184T|VEGFA_ENST00000518824.1_Silent_p.T160T|VEGFA_ENST00000482630.2_Silent_p.T340T|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000523125.1_Silent_p.T160T|VEGFA_ENST00000518689.1_Silent_p.T178T|VEGFA_ENST00000523950.1_Silent_p.T160T|VEGFA_ENST00000413642.3_Silent_p.T358T|VEGFA_ENST00000523873.1_Silent_p.T201T|VEGFA_ENST00000372055.4_Silent_p.T381T|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000425836.2_Silent_p.T364T	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	201					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	ATCCGCAGACGTGTAAATGTT	0.493000													6	28					0	0	0.001168	0	0
NOBOX	135935	broad.mit.edu	37	7	144098460	144098460	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:144098460G>T	ENST00000467773.1	-	4	522	c.523C>A	c.(523-525)Cgc>Agc	p.R175S	NOBOX_ENST00000483238.1_Missense_Mutation_p.R175S|NOBOX_ENST00000223140.5_Missense_Mutation_p.R90S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	175					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCCTGGAGCGGGCTAGAGTT	0.622000													6	22					8.12818e-05	0.000182706	0.001984	1	0
FADS6	283985	broad.mit.edu	37	17	72877306	72877306	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:72877306C>A	ENST00000310226.6	-	4	632	c.618G>T	c.(616-618)tgG>tgT	p.W206C		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	212					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAGGAGCAGCCAGTAGTGAG	0.607000													14	14					4.36969e-10	1.18212e-09	0.001855	1	0
LST3	0	broad.mit.edu	37	12	21196321	21196321	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:21196321G>T	ENST00000381541.3	+	7	846	c.781G>T	c.(781-783)Ggt>Tgt	p.G261C	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G261C|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.G214C																							TTGGTGGCTTGGTTTCCTTGT	0.363000													21	139					7.41877e-09	1.92588e-08	0.001882	1	0
MBL2	4153	broad.mit.edu	37	10	54529051	54529051	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:54529051G>C	ENST00000373968.3	-	3	393	c.329C>G	c.(328-330)tCa>tGa	p.S110*	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	110					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTTTCTTTCTGAGGCAGCCAG	0.408000													19	106					0	0	0.001523	0	0
IVL	3713	broad.mit.edu	37	1	152882573	152882573	+	Silent	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:152882573A>G	ENST00000368764.3	+	2	364	c.300A>G	c.(298-300)aaA>aaG	p.K100K	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	100					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATATCAGAAAGCAGAAAACC	0.493000													16	32					0	0	0.004007	0	0
GRM3	2913	broad.mit.edu	37	7	86493676	86493676	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:86493676G>A	ENST00000394720.2	+	5	1749	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	GRM3_ENST00000361669.2_3'UTR|GRM3_ENST00000546348.1_3'UTR|GRM3_ENST00000536043.1_3'UTR|GRM3_ENST00000439827.1_Silent_p.V526V			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				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)	CTGTGATTGTGAATTGCAGTT	0.473000													15	68					0	0	0.003163	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469921	25469921	+	Splice_Site	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:25469921T>A	ENST00000264709.3	-	9	1458	c.1122_splice	c.e9+1	p.Q374_splice	DNMT3A_ENST00000402667.1_Splice_Site_p.Q151_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.Q185_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.Q374_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	374	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACTCACCTGCAGGACCTC	0.602000			"""Mis, F, N, S"""		AML								6	31					0	0	0.001984	0	0
LRRC52	440699	broad.mit.edu	37	1	165532977	165532977	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:165532977C>T	ENST00000294818.1	+	2	1148	c.858C>T	c.(856-858)gaC>gaT	p.D286D	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	286						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAGATGAGGACGAGGCCGGGA	0.572000													5	50					0	0	0.001984	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819696	159819696	+	RNA	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:159819696C>A	ENST00000497452.1	-	0	517																											TCCTGTGGATCCCATTGTAGG	0.488000													29	134					2.12542e-12	6.00255e-12	0.006320	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178770999	178770999	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:178770999G>T	ENST00000251582.7	-	2	404	c.303C>A	c.(301-303)aaC>aaA	p.N101K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.N101K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	101					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCTCCTCCTCGTTGCCTCCGG	0.711000													18	31					4.96729e-08	1.25567e-07	0.008871	1	0
ADCY8	114	broad.mit.edu	37	8	131916241	131916241	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:131916241T>C	ENST00000286355.5	-	7	3780	c.1688A>G	c.(1687-1689)tAt>tGt	p.Y563C	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y563C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	563					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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCCACGTTATAGTCACCGTT	0.468000										HNSCC(32;0.087)			35	211					0	0	0.008740	0	0
KCNB2	9312	broad.mit.edu	37	8	73480118	73480118	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:73480118G>T	ENST00000523207.1	+	2	737	c.149G>T	c.(148-150)tGg>tTg	p.W50L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	50					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAGTCCTGTGGAGAACGCTG	0.557000													41	87					8.48111e-28	2.62608e-27	0.003610	1	0
TAB2	23118	broad.mit.edu	37	6	149719163	149719163	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:149719163G>A	ENST00000367456.1	+	6	2400	c.1823G>A	c.(1822-1824)tGc>tAc	p.C608Y	TAB2_ENST00000286332.5_Missense_Mutation_p.C608Y|TAB2_ENST00000538427.1_Missense_Mutation_p.C608Y|TAB2_ENST00000536230.1_Missense_Mutation_p.C576Y			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	608					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GACATTGACTGCTTAACCAAA	0.353000													5	16					0	0	0.001168	0	0
FAM135B	51059	broad.mit.edu	37	8	139323163	139323163	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:139323163C>T	ENST00000395297.1	-	3	248	c.77_splice	c.e3-1	p.G26_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	26										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGGTAATACCTAAGAAAAG	0.468000										HNSCC(54;0.14)			10	55					0	0	0.008291	0	0
ZNF257	113835	broad.mit.edu	37	19	22272134	22272134	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:22272134T>A	ENST00000594947.1	+	4	1726	c.1582T>A	c.(1582-1584)Tca>Aca	p.S528T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAATCGTTTCTCATACCTTAC	0.388000													6	24					0	0	0.001168	0	0
MAPK9	5601	broad.mit.edu	37	5	179666940	179666940	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:179666940T>C	ENST00000452135.2	-	10	1342	c.1044A>G	c.(1042-1044)gcA>gcG	p.A348A	MAPK9_ENST00000455781.1_Silent_p.A348A|MAPK9_ENST00000393360.3_Silent_p.A348A|MAPK9_ENST00000343111.6_Silent_p.A348A|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Silent_p.A263A			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	348					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCTTCAATTGCATGTTCTC	0.348000													13	23					0	0	0.004007	0	0
OR7D2	162998	broad.mit.edu	37	19	9297244	9297244	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9297244G>A	ENST00000344248.2	+	1	966	c.787G>A	c.(787-789)Gcg>Acg	p.A263T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	263					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTTCACTTCTGCGGTGACTCA	0.512000													23	58					0	0	0.005443	0	0
CDH10	1008	broad.mit.edu	37	5	24511453	24511453	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:24511453T>G	ENST00000264463.4	-	6	1492	c.985A>C	c.(985-987)Atc>Ctc	p.I329L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	329	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACAGTGATGATGCCTTCCTGT	0.413000										HNSCC(23;0.051)			17	148					0	0	0.006122	0	0
ZNF254	9534	broad.mit.edu	37	19	24310288	24310288	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:24310288G>T	ENST00000357002.4	+	4	1601	c.1486G>T	c.(1486-1488)Ggc>Tgc	p.G496C	ZNF254_ENST00000342944.6_Missense_Mutation_p.G411C	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	496					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGAAGAATGTGGCAAATCTTT	0.398000													10	40					0.000442599	0.000953196	0.006214	1	0
CADM2	253559	broad.mit.edu	37	3	85932571	85932571	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:85932571C>G	ENST00000383699.3	+	4	996	c.369C>G	c.(367-369)tcC>tcG	p.S123S	CADM2_ENST00000405615.2_Silent_p.S116S|CADM2_ENST00000407528.2_Silent_p.S114S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	114					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCAAAACTTCCAAGGCATATC	0.398000													3	17					0	0	0.004672	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530921	140530921	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140530921C>A	ENST00000231136.1	+	1	1083	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	PCDHB6_ENST00000543635.1_Silent_p.I225I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAGAGATCACAGTGGCAG	0.453000													14	40					1.5842e-08	4.07139e-08	0.001855	1	0
MUC16	94025	broad.mit.edu	37	19	9085769	9085769	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:9085769G>A	ENST00000397910.4	-	1	6249	c.6046C>T	c.(6046-6048)Cat>Tat	p.H2016Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2016	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCTCATGGGTAGGGGAA	0.463000													17	52					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7578211C>A	ENST00000420246.2	-	6	770	c.638G>T	c.(637-639)cGa>cTa	p.R213L	TP53_ENST00000455263.2_Missense_Mutation_p.R213L|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R213L|TP53_ENST00000269305.4_Missense_Mutation_p.R213L|TP53_ENST00000359597.4_Missense_Mutation_p.R213L|TP53_ENST00000413465.2_Missense_Mutation_p.R213L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	18					9.31168e-06	2.19551e-05	0.001855	1	0
FEN1	2237	broad.mit.edu	37	11	61563897	61563897	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:61563897G>T	ENST00000305885.2	+	2	1477	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	355					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCAGCTAAGCGCAAGGAGCCA	0.532000								Editing and processing nucleases					5	20					0.000602214	0.00128617	0.000602	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130286106	130286106	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:130286106A>G	ENST00000257359.6	-	4	1922	c.1216T>C	c.(1216-1218)Tcc>Ccc	p.S406P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	406	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTGCAGGGGGACCAGGGCAGC	0.677000													2	4					0	0	0.004672	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912388	100912388	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:100912388T>C	ENST00000328766.5	-	5	640	c.187A>G	c.(187-189)Atc>Gtc	p.I63V	ARMCX2_ENST00000330154.2_Missense_Mutation_p.I63V|ARMCX2_ENST00000356824.4_Missense_Mutation_p.I63V|ARMCX2_ENST00000467416.1_5'UTR	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	63						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCAAGGTCGATTGTGAATCCG	0.597000													15	59					0	0	0.003163	0	0
HTR5A	3361	broad.mit.edu	37	7	154875975	154875975	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:154875975C>G	ENST00000287907.2	+	2	1428	c.852C>G	c.(850-852)gcC>gcG	p.A284A	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	284						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCGGGCCGCCCTCATGGTGG	0.637000													24	45					0	0	0.002780	0	0
TAF9B	51616	broad.mit.edu	37	X	77393354	77393354	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:77393354T>C	ENST00000341864.5	-	4	391	c.297A>G	c.(295-297)aaA>aaG	p.K99K		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	99					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						GGGTTTGATTTTTCTGCCTTG	0.343000													20	55					0	0	0.008871	0	0
ZNF502	91392	broad.mit.edu	37	3	44762622	44762622	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:44762622G>A	ENST00000296091.4	+	4	569	c.313G>A	c.(313-315)Gag>Aag	p.E105K	ZNF502_ENST00000449836.1_Missense_Mutation_p.E105K|ZNF502_ENST00000436624.2_Missense_Mutation_p.E105K	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATATAATTTTGAGAAAAGCTT	0.398000													9	41					0	0	0.008291	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967754	76967754	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:76967754C>T	ENST00000262776.3	-	6	1970	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	554					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGAGGTGCTCTTCGAGCTGT	0.622000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	136					0	0	0.000978	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806802	97806802	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:97806802G>T	ENST00000358642.2	+	1	786	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCATGTATGTGCGTCCTGCAT	0.428000													15	57					2.23348e-06	5.43223e-06	0.004007	1	0
C3orf72	401089	broad.mit.edu	37	3	138669186	138669186	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:138669186C>A	ENST00000383165.3	+	3	431	c.300C>A	c.(298-300)cgC>cgA	p.R100R		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	100										large_intestine(1)|lung(3)	4						GGAAGCGTCGCGGCTGCTCTG	0.687000													22	42					2.89027e-11	7.93024e-11	0.002299	1	0
FAM160B2	64760	broad.mit.edu	37	8	21957263	21957263	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:21957263G>C	ENST00000289921.7	+	10	1246	c.1200G>C	c.(1198-1200)ctG>ctC	p.L400L		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	400										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCCATGCTGCGCCAGCTTC	0.672000													11	38					0	0	0.001368	0	0
DCX	1641	broad.mit.edu	37	X	110644217	110644217	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:110644217C>A	ENST00000338081.3	-	3	1120		c.e3+1		DCX_ENST00000496551.1_Splice_Site|DCX_ENST00000488120.1_Splice_Site|DCX_ENST00000356915.2_Splice_Site|DCX_ENST00000356220.3_Splice_Site|DCX_ENST00000371993.2_Splice_Site	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin						axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AAAGTACCTACCTGTTTTCCA	0.398000													31	116					1.08312e-15	3.13942e-15	0.001786	1	0
SI	6476	broad.mit.edu	37	3	164732915	164732915	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:164732915G>T	ENST00000264382.3	-	33	4057	c.3995C>A	c.(3994-3996)gCa>gAa	p.A1332E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1332	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTACCTTTGCCCAACAAAT	0.323000										HNSCC(35;0.089)			5	51					0.000602214	0.00128617	0.000602	1	0
KIF26B	55083	broad.mit.edu	37	1	245849896	245849896	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:245849896G>A	ENST00000366518.4	+	9	2572	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1204N			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1204					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTCCTGGACAGCGGCCGCCCC	0.657000													4	13					0	0	0.001168	0	0
KIAA0100	9703	broad.mit.edu	37	17	26942796	26942796	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:26942796G>A	ENST00000528896.2	-	38	6485	c.6411C>T	c.(6409-6411)gaC>gaT	p.D2137D	SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.D1994D|KIAA0100_ENST00000389003.3_Silent_p.D1994D|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2137						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGTCACCCCAGTCCACACTGT	0.537000													19	37					0	0	0.008871	0	0
TEX14	56155	broad.mit.edu	37	17	56676479	56676479	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:56676479C>T	ENST00000389934.3	-	14	2344	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	TEX14_ENST00000349033.5_Missense_Mutation_p.E743K|TEX14_ENST00000240361.8_Missense_Mutation_p.E749K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	749						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATTCTCGTGCATTATT	0.428000													47	152					0	0	0.003610	0	0
PTPLB	201562	broad.mit.edu	37	3	123247241	123247241	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:123247241C>A	ENST00000383657.5	-	4	530	c.373G>T	c.(373-375)Gtc>Ttc	p.V125F		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	125					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ACCTCTTTGACGCTATGTGTT	0.358000													18	37					1.67942e-08	4.30176e-08	0.006122	1	0
AWAT2	158835	broad.mit.edu	37	X	69262102	69262102	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:69262102T>C	ENST00000276101.3	-	6	787	c.782A>G	c.(781-783)tAt>tGt	p.Y261C		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	261						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GCCACGTCCATAGAAAGCACA	0.537000													12	26					0	0	0.001855	0	0
ZNF286B	729288	broad.mit.edu	37	17	18584121	18584121	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18584121G>A	ENST00000545289.1	-	3	309	c.59C>T	c.(58-60)cCc>cTc	p.P20L		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTGGAAATGGGGAGAATCCTG	0.473000													19	148					0	0	0.008871	0	0
PSG2	5670	broad.mit.edu	37	19	43579547	43579547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:43579547C>A	ENST00000406487.1	-	3	766	c.668G>T	c.(667-669)gGg>gTg	p.G223V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	223	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTGGCACTCCCTGAGTTCCG	0.507000													69	306					9.96456e-45	3.13579e-44	0.003610	1	0
OR1L3	26735	broad.mit.edu	37	9	125438052	125438052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:125438052T>C	ENST00000304820.2	+	1	738	c.644T>C	c.(643-645)aTc>aCc	p.I215T		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GTCTGTATCATCATCTCTTAT	0.488000													22	91					0	0	0.001882	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238392	71238392	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:71238392G>A	ENST00000398536.4	+	1	80	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	16						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CGGCTGTGGGGGCTGTGGCTC	0.657000													345	193					0	0	0.003610	0	0
MBOAT1	154141	broad.mit.edu	37	6	20102580	20102580	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:20102580T>C	ENST00000541730.1	-	12	1573	c.978A>G	c.(976-978)ccA>ccG	p.P326P	MBOAT1_ENST00000324607.7_Silent_p.P475P			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	475					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TATGAGCTTGTGGTTTCATTG	0.353000													11	46					0	0	0.008291	0	0
VCAN	1462	broad.mit.edu	37	5	82786136	82786136	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:82786136A>T	ENST00000265077.3	+	3	855	c.290A>T	c.(289-291)tAc>tTc	p.Y97F	VCAN_ENST00000502527.2_Missense_Mutation_p.Y97F|VCAN_ENST00000342785.4_Missense_Mutation_p.Y97F|VCAN_ENST00000343200.5_Missense_Mutation_p.Y97F|VCAN_ENST00000513984.1_Missense_Mutation_p.Y97F|VCAN_ENST00000512590.2_Missense_Mutation_p.Y49F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	97	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCAGGACTACAAAGGGAGA	0.483000													22	69					0	0	0.002299	0	0
FBXO10	26267	broad.mit.edu	37	9	37518331	37518331	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37518331T>A	ENST00000432825.2	-	9	2353	c.2305A>T	c.(2305-2307)Acc>Tcc	p.T769S	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.T294S	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	769						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCCACTCGGGTGGGTTGGCTG	0.567000													23	24					0	0	0.002299	0	0
NBPF1	55672	broad.mit.edu	37	1	16913608	16913608	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:16913608T>C	ENST00000430580.2	-	11	1602	c.715A>G	c.(715-717)Act>Gct	p.T239A		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	239	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACAACCAGAGTTGAGTTGACT	0.448000													4	68					0	0	0.001168	0	0
FKRP	79147	broad.mit.edu	37	19	47259844	47259844	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:47259844G>C	ENST00000318584.5	+	4	1434	c.1137G>C	c.(1135-1137)cgG>cgC	p.R379R	FKRP_ENST00000391909.3_Silent_p.R379R|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	379						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAGCTGCGGGGGGCAGAGG	0.657000													4	17					0	0	0.000248	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707921	126707921	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:126707921G>A	ENST00000251772.4	+	1	485	c.416G>A	c.(415-417)aGc>aAc	p.S139N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.S162N			Q9UIW2	PLXA1_HUMAN	plexin A1	162	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TACCTGTCCAGCGTGCAGGAG	0.657000													4	32					0	0	0.000248	0	0
MASP1	5648	broad.mit.edu	37	3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:186974553T>C	ENST00000337774.5	-	5	1032	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.T189A|MASP1_ENST00000169293.6_Missense_Mutation_p.T215A|MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	215	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTCGATGGTATACAGGCAT	0.512000													10	95					0	0	0.008291	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089179	220089179	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:220089179C>A	ENST00000366926.3	-	4	1231	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.R112M	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	357					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGATATCCCCTGTCCTTAGG	0.453000													19	99					3.51602e-12	9.89361e-12	0.008871	1	0
EPHB1	2047	broad.mit.edu	37	3	134670706	134670706	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:134670706T>C	ENST00000398015.3	+	3	987	c.617T>C	c.(616-618)tTt>tCt	p.F206S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	206	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTGCAGTGTTTCCAGAGACT	0.483000													40	244					0	0	0.007835	0	0
ANGPT2	285	broad.mit.edu	37	8	6378820	6378820	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:6378820G>A	ENST00000325203.5	-	4	1152	c.678C>T	c.(676-678)atC>atT	p.I226I	ANGPT2_ENST00000338312.6_Silent_p.I174I|ANGPT2_ENST00000523120.1_Silent_p.I226I|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Silent_p.I226I			O15123	ANGP2_HUMAN	angiopoietin 2	226					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GTTCTTCAATGATGGAATTTT	0.373000													8	42					0	0	0.003080	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034090	52034090	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52034090G>A	ENST00000346477.3	-	3	619	c.551C>T	c.(550-552)tCa>tTa	p.S184L	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S173L|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S184L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S184L|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S184L|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S148L	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	184	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGCAGCTGACATCCAGGA	0.657000													15	66					0	0	0.007413	0	0
H2BFM	286436	broad.mit.edu	37	X	103294873	103294873	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:103294873G>C	ENST00000243297.5	+	3	639	c.639G>C	c.(637-639)gtG>gtC	p.V213V	H2BFM_ENST00000355016.3_Silent_p.V110V					H2B histone family, member M											endometrium(1)|lung(1)|ovary(1)	3						CCAAGCGCGTGACCATCACCT	0.622000													4	15					0	0	0.000248	0	0
GDF6	392255	broad.mit.edu	37	8	97156802	97156802	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:97156802C>T	ENST00000287020.5	-	2	1456	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	453					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TACCTGCAGCCGCACGACTCC	0.622000													5	15					0	0	0.001984	0	0
TMLHE	55217	broad.mit.edu	37	X	154736700	154736700	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:154736700G>T	ENST00000334398.3	-	6	999	c.854C>A	c.(853-855)gCa>gAa	p.A285E	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.A285E	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	285					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCTCAGGTGCCTTTTGAAG	0.418000													39	104					1.03484e-13	2.96602e-13	0.005524	1	0
INTS4P1	285905	broad.mit.edu	37	7	64673146	64673146	+	RNA	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:64673146G>C	ENST00000587624.1	+	0	1437																											GCATGTGCAGGATCCTCAGAA	0.517000													4	6					0	0	0.000978	0	0
GDI2	2665	broad.mit.edu	37	10	5836966	5836966	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:5836966C>T	ENST00000380191.4	-	4	560	c.270G>A	c.(268-270)atG>atA	p.M90I	GDI2_ENST00000380181.3_Intron|GDI2_ENST00000380132.4_Missense_Mutation_p.M94I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	90					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TATAAAGCAGCATCTTAACCA	0.333000													27	37					0	0	0.006320	0	0
COL5A2	1290	broad.mit.edu	37	2	189907465	189907465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:189907465G>A	ENST00000374866.3	-	49	3780	c.3506C>T	c.(3505-3507)cCt>cTt	p.P1169L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1169					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAATGGTCCAGGGATTCCAGC	0.373000													4	10					0	0	0.000248	0	0
OR2A25	392138	broad.mit.edu	37	7	143771537	143771537	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:143771537C>A	ENST00000408898.2	+	1	263	c.225C>A	c.(223-225)agC>agA	p.S75R		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	75			S -> N (in dbSNP:rs6951485).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTGCTTGCAGCACGGTGCCCC	0.557000													37	44					3.62531e-18	1.07504e-17	0.004289	1	0
DCAF10	79269	broad.mit.edu	37	9	37860055	37860055	+	Silent	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:37860055A>G	ENST00000242323.7	+	5	1139	c.1065A>G	c.(1063-1065)ccA>ccG	p.P355P	DCAF10_ENST00000377724.3_Silent_p.P392P|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	392	Ser-rich.					CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GAGTTTCACCACGAAATAGTC	0.448000													4	77					0	0	0.000602	0	0
SGCD	6444	broad.mit.edu	37	5	156186321	156186321	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:156186321G>C	ENST00000435422.3	+	8	1277	c.790G>C	c.(790-792)Gtc>Ctc	p.V264L	SGCD_ENST00000337851.4_Missense_Mutation_p.V265L	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	264					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGAGATCTGCGTCTGCGCCAA	0.488000													23	77					0	0	0.003954	0	0
SPICE1	152185	broad.mit.edu	37	3	113172677	113172677	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:113172677G>C	ENST00000295872.4	-	14	2037	c.1778C>G	c.(1777-1779)tCa>tGa	p.S593*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	593					cell division|mitosis	centriole|spindle	protein binding	p.S593*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTCTTCACTTGAATTCTGAAT	0.428000													41	32					0	0	0.007835	0	0
SLC38A11	151258	broad.mit.edu	37	2	165768172	165768172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:165768172G>T	ENST00000303735.4	-	8	1033	c.703C>A	c.(703-705)Cct>Act	p.P235T	SLC38A11_ENST00000409662.1_Missense_Mutation_p.P257T|SLC38A11_ENST00000409058.1_Missense_Mutation_p.P288T|SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409149.3_Missense_Mutation_p.P257T	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	257					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CATTCCATAGGGTATGTCAAA	0.378000													4	20					0.00024832	0.000545455	0.000248	1	0
ULK4	54986	broad.mit.edu	37	3	41497085	41497085	+	Splice_Site	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:41497085G>A	ENST00000301831.4	-	34	3857	c.3393_splice	c.e34-1	p.A1132_splice		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1132							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACTTCTGGGCCTGGAACAG	0.542000													20	30					0	0	0.007413	0	0
IMPG1	3617	broad.mit.edu	37	6	76728538	76728538	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:76728538C>A	ENST00000369950.3	-	7	893	c.704G>T	c.(703-705)aGg>aTg	p.R235M	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	235	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGCTCCACCCTCTGCTCCTC	0.433000													9	27					0.000274275	0.000599054	0.004482	1	0
ARRDC5	645432	broad.mit.edu	37	19	4902866	4902866	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:4902866T>C	ENST00000381781.2	-	1	13	c.14A>G	c.(13-15)gAg>gGg	p.E5G		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	5					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAGACATTCCTCTCTGTCCCC	0.542000													21	33					0	0	0.001523	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169444	90169444	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:90169444G>T	ENST00000333209.3	-	2	2336	c.1818C>A	c.(1816-1818)agC>agA	p.S606R		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	606										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGATGGCAGGCTCAGGCTGG	0.582000													31	100					1.08312e-15	3.13942e-15	0.001786	1	0
ISOC1	51015	broad.mit.edu	37	5	128430682	128430682	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:128430682G>A	ENST00000173527.5	+	1	239	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	75						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCTGTTCGCCGAGGAGTGGGG	0.652000													5	16					0	0	0.001168	0	0
ENPP6	133121	broad.mit.edu	37	4	185018464	185018464	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:185018464G>T	ENST00000296741.2	-	7	1192	c.1051C>A	c.(1051-1053)Cgt>Agt	p.R351S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	351					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGCCATCCACGCTGCCAACCT	0.577000													8	33					3.09899e-07	7.73242e-07	0.004482	1	0
GPT2	84706	broad.mit.edu	37	16	46956246	46956246	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:46956246C>A	ENST00000440783.2	+	9	1495	c.830C>A	c.(829-831)cCc>cAc	p.P277H	GPT2_ENST00000340124.4_Missense_Mutation_p.P377H	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	377					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGCCTGTGCCCCCCAGTGTCT	0.612000													18	50					2.39187e-15	6.90687e-15	0.008871	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269597	30269597	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:30269597C>A	ENST00000378981.3	+	4	1308	c.987C>A	c.(985-987)gcC>gcA	p.A329A	MAGEB1_ENST00000397548.2_Silent_p.A329A|MAGEB1_ENST00000397550.1_Silent_p.A329A	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	329										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCACTACTGCCACGACTTTTA	0.532000													13	54					2.27111e-07	5.68515e-07	0.001368	1	0
FGF12	2257	broad.mit.edu	37	3	192078262	192078262	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:192078262G>T	ENST00000454309.2	-	2	1090	c.265C>A	c.(265-267)Cca>Aca	p.P89T	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000445105.1_Missense_Mutation_p.P27T|FGF12_ENST00000450716.1_Missense_Mutation_p.P27T|FGF12_ENST00000264730.3_Missense_Mutation_p.P27T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	89					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.P89T(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTACCATCTGGGTGCATCTGC	0.408000													22	68					4.26978e-12	1.19275e-11	0.003330	1	0
CDKL5	6792	broad.mit.edu	37	X	18638053	18638053	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18638053G>T	ENST00000379989.3	+	17	2628	c.2343G>T	c.(2341-2343)agG>agT	p.R781S	CDKL5_ENST00000379996.3_Missense_Mutation_p.R781S|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	781					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GATTTTTCAGGTCAATGAAAA	0.289000													8	14					1.26484e-09	3.35119e-09	0.003080	1	0
CDH1	999	broad.mit.edu	37	16	68853297	68853297	+	Silent	SNP	G	G	A	rs35741240	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:68853297G>A	ENST00000261769.5	+	11	1871	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	CDH1_ENST00000422392.2_Silent_p.T499T|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	560	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T560T(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGAACAGCACGTACACAGCCC	0.542000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				12	33					0	0	0.000978	0	0
MRP63	78988	broad.mit.edu	37	13	21751049	21751049	+	Splice_Site	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:21751049A>C	ENST00000309594.4	+	2	73		c.e2-1			NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63											kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		TCTCTTCCGCAGGCACCATGT	0.716000													3	46					0	0	0.004672	0	0
RPGR	6103	broad.mit.edu	37	X	38145138	38145138	+	Silent	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:38145138T>C	ENST00000378505.2	-	15	3290	c.3114A>G	c.(3112-3114)gaA>gaG	p.E1038E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	827					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcctctccttcctcttcct	0.552000													3	12					0	0	0.004672	0	0
NDUFS8	4728	broad.mit.edu	37	11	67803822	67803822	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:67803822G>C	ENST00000313468.5	+	6	582	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	NDUFS8_ENST00000528492.1_Missense_Mutation_p.A13P	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	159	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	CTGCCAGGAGGCCTGTCCCGT	0.652000													7	35					0	0	0.004482	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123480966	123480966	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:123480966C>T	ENST00000529750.1	+	13	1737	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	GRAMD1B_ENST00000450171.2_Silent_p.H161H|GRAMD1B_ENST00000322282.7_Silent_p.H470H|GRAMD1B_ENST00000456860.2_Silent_p.H477H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	470						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCACCCACGACGTGCCCT	0.542000													17	46					0	0	0.004990	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406691	158406691	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:158406691A>G	ENST00000243349.7	-	4	1118	c.758T>C	c.(757-759)aTt>aCt	p.I253T	ACVR1C_ENST00000335450.7_Missense_Mutation_p.I173T|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.I203T	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	253	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTCAGCAGCAATGAAACCAAG	0.388000													18	34					0	0	0.006122	0	0
PARP4	143	broad.mit.edu	37	13	25033197	25033197	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:25033197A>T	ENST00000381989.3	-	20	2514	c.2409T>A	c.(2407-2409)caT>caA	p.H803Q	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	803					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTTTCAGTTCATGTGTATCAC	0.333000													7	25					0	0	0.004482	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573436	136573436	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:136573436A>G	ENST00000446465.2	+	2	762	c.134A>G	c.(133-135)tAt>tGt	p.Y45C	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.Y45C	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	45						Golgi apparatus|integral to membrane											AATGAAGGCTATGGAAATTTT	0.398000													44	275					0	0	0.002222	0	0
DENND3	22898	broad.mit.edu	37	8	142188188	142188188	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:142188188C>T	ENST00000519811.1	+	16	2799	c.2729C>T	c.(2728-2730)gCg>gTg	p.A910V	DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000424248.1_Missense_Mutation_p.A778V|DENND3_ENST00000262585.2_Missense_Mutation_p.A830V			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	830								p.A830V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAGCAGGCGCTGACCAAC	0.517000													14	45					0	0	0.003163	0	0
KNDC1	85442	broad.mit.edu	37	10	135012615	135012615	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:135012615G>T	ENST00000304613.3	+	14	2624	c.2603G>T	c.(2602-2604)cGg>cTg	p.R868L	KNDC1_ENST00000368571.2_Missense_Mutation_p.R803L|KNDC1_ENST00000368572.2_Missense_Mutation_p.R868L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	868	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGCCGCGGCCCGCAGAC	0.731000													4	12					0.00024832	0.000545455	0.000248	1	0
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522000													10	52					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	28					0	0	0.003080	0	0
GATA3	2625	broad.mit.edu	37	10	8100316	8100316	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:8100316T>A	ENST00000379328.3	+	3	858	c.290T>A	c.(289-291)cTg>cAg	p.L97Q	GATA3_ENST00000346208.3_Missense_Mutation_p.L97Q	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	97					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTACCCTGGCTGGACGGCGGC	0.687000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						15	98					0	0	0.004007	0	0
PEAR1	375033	broad.mit.edu	37	1	156882415	156882415	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:156882415G>T	ENST00000338302.3	+	18	2434		c.e18+1		PEAR1_ENST00000292357.7_Splice_Site			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1							integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGGATTGGTGAGTTCTTT	0.602000													37	36					4.62619e-21	1.39874e-20	0.004289	1	0
MARCH6	10299	broad.mit.edu	37	5	10415698	10415698	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:10415698A>G	ENST00000274140.5	+	21	2197	c.2065A>G	c.(2065-2067)Ata>Gta	p.I689V	MARCH6_ENST00000449913.2_Missense_Mutation_p.I641V|MARCH6_ENST00000503788.1_Missense_Mutation_p.I584V|MARCH6_ENST00000510792.1_Missense_Mutation_p.I387V	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	689					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGGCTAACCATAAGGGCTGT	0.493000													35	95					0	0	0.002445	0	0
FTMT	94033	broad.mit.edu	37	5	121188322	121188322	+	Missense_Mutation	SNP	G	G	T	rs138610881	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:121188322G>T	ENST00000321339.1	+	1	673	c.664G>T	c.(664-666)Gat>Tat	p.D222Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	222					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGGGGCCCCGGATGCTGGCCT	0.507000													34	93					6.84511e-11	1.87148e-10	0.003271	1	0
USH2A	7399	broad.mit.edu	37	1	215987092	215987092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:215987092G>C	ENST00000366943.2	-	49	10111	c.9725C>G	c.(9724-9726)gCt>gGt	p.A3242G	USH2A_ENST00000307340.3_Missense_Mutation_p.A3242G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3242					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGAATTCTAGCGTAATACCC	0.418000										HNSCC(13;0.011)			13	60					0	0	0.002450	0	0
GABRA2	2555	broad.mit.edu	37	4	46314582	46314582	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:46314582G>A	ENST00000510861.1	-	5	580	c.407C>T	c.(406-408)gCt>gTt	p.A136V	GABRA2_ENST00000507069.1_Missense_Mutation_p.A136V|GABRA2_ENST00000540012.1_Missense_Mutation_p.A81V|GABRA2_ENST00000356504.1_Missense_Mutation_p.A136V|GABRA2_ENST00000515082.1_Missense_Mutation_p.A136V|GABRA2_ENST00000381620.4_Missense_Mutation_p.A136V|GABRA2_ENST00000514090.1_Missense_Mutation_p.A136V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	136					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATATTATGAGCTACTGATTT	0.343000													11	69					0	0	0.001368	0	0
DACH2	117154	broad.mit.edu	37	X	85969660	85969660	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:85969660C>A	ENST00000373131.1	+	5	1165	c.1002C>A	c.(1000-1002)gcC>gcA	p.A334A	DACH2_ENST00000373125.4_Silent_p.A347A|DACH2_ENST00000508860.1_Silent_p.A180A|DACH2_ENST00000510272.1_Silent_p.A128A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATACTATTGCCAACATGGCTG	0.448000													8	65					0.000442599	0.000953196	0.006214	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75560118	75560118	+	Silent	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:75560118C>G	ENST00000604729.1	+	23	5187	c.4890C>G	c.(4888-4890)acC>acG	p.T1630T	ZSWIM8_ENST00000603114.1_Silent_p.T1592T|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Silent_p.T1633T|ZSWIM8_ENST00000398706.2_Silent_p.T1638T|ZSWIM8_ENST00000604524.1_Silent_p.T1451T					zinc finger, SWIM-type containing 8																		CTGCCCTGACCACACAGCCCA	0.607000													17	76					0	0	0.006122	0	0
ADAM7	8756	broad.mit.edu	37	8	24334017	24334017	+	Splice_Site	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:24334017G>A	ENST00000175238.6	+	8	788	c.705_splice	c.e8+1	p.M235_splice	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.M235_splice|ADAM7_ENST00000520720.1_Splice_Site_p.M7_splice	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	235	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGTCAACATGGTAAGATTTG	0.343000													6	19					0	0	0.001984	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238393	71238393	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:71238393G>T	ENST00000398536.4	+	1	81	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	16						keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGCTGTGGGGGCTGTGGCTCC	0.662000													347	196					1.31094e-123	4.14236e-123	0.003610	1	0
HOXB6	3216	broad.mit.edu	37	17	46673848	46673848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:46673848C>T	ENST00000484302.2	-	3	1224	c.602G>A	c.(601-603)tGg>tAg	p.W201*	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.W201*|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA			P17509	HXB6_HUMAN	homeobox B6	201					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CTCCTTTTTCCACTTCATGCG	0.597000													45	236					0	0	0.002522	0	0
CTNNA2	1496	broad.mit.edu	37	2	80540759	80540759	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80540759C>A	ENST00000343114.3	+	1	256	c.73C>A	c.(73-75)Cat>Aat	p.H25N	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCTGAGATGCATACCATGTC	0.438000													6	9					3.59834e-05	8.23239e-05	0.001168	1	0
OR2M4	26245	broad.mit.edu	37	1	248402450	248402450	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248402450A>T	ENST00000306687.1	+	1	220	c.220A>T	c.(220-222)Atc>Ttc	p.I74F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I74F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCATGCTCATCTGCACCAC	0.458000													18	86					0	0	0.001523	0	0
NYAP1	222950	broad.mit.edu	37	7	100086152	100086152	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:100086152G>A	ENST00000423930.1	+	4	967	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	NYAP1_ENST00000454988.1_Missense_Mutation_p.E213K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E270K			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	270																	CCCGCTGCCGGAAGAGGCTGG	0.687000													16	87					0	0	0.004007	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726465	67726465	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:67726465G>A	ENST00000433211.1	-	17	2479	c.2305C>T	c.(2305-2307)Ctg>Ttg	p.L769L	CTNNA3_ENST00000373744.4_Silent_p.L769L|CTNNA3_ENST00000373735.1_Silent_p.L108L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	769					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCTGTTCCAGGTAGGCCAAC	0.403000													12	46					0	0	0.001368	0	0
LRRN3	54674	broad.mit.edu	37	7	110763775	110763775	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:110763775C>T	ENST00000451085.1	+	4	1993	c.947C>T	c.(946-948)gCt>gTt	p.A316V	LRRN3_ENST00000308478.5_Missense_Mutation_p.A316V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.A316V|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	316						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAATAGAAGCTACTAACAAC	0.418000													19	42					0	0	0.006122	0	0
TBX2	6909	broad.mit.edu	37	17	59479058	59479058	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:59479058C>T	ENST00000240328.3	+	2	690	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	137					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GATGTTCCCCCCCTTCAAGGT	0.562000													5	42					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13719206	13719206	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:13719206C>T	ENST00000265104.4	-	72	12388	c.12284G>A	c.(12283-12285)gGa>gAa	p.G4095E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4095	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTGCCCATCCTCCCTGTCA	0.363000									Kartagener syndrome				10	33					0	0	0.008291	0	0
THAP11	57215	broad.mit.edu	37	16	67876755	67876755	+	Missense_Mutation	SNP	G	G	T	rs142722815	by1000genomes	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67876755G>T	ENST00000303596.1	+	1	543	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	100	Poly-Ala.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ggccgcggccgcccgccgcAG	0.687000													6	26					1.26484e-09	3.35119e-09	0.003080	1	0
MAGEB18	286514	broad.mit.edu	37	X	26158123	26158123	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:26158123C>A	ENST00000325250.1	+	2	1208	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	341							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGCTTCTCCCATGCTAAGTG	0.502000													3	9					0.004672	0.00973544	0.004672	1	0
N4BP2	55728	broad.mit.edu	37	4	40115063	40115063	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:40115063C>A	ENST00000261435.6	+	7	2015	c.1599C>A	c.(1597-1599)caC>caA	p.H533Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	533						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCAGAAACACAAATATAAAG	0.313000													25	97					0.000375601	0.000818046	0.002780	1	0
ADRA1A	148	broad.mit.edu	37	8	26628171	26628171	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:26628171G>T	ENST00000380573.3	-	3	1919	c.896C>A	c.(895-897)cCt>cAt	p.P299H	ADRA1A_ENST00000276393.4_Missense_Mutation_p.P299H|ADRA1A_ENST00000380586.1_Missense_Mutation_p.P299H|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Missense_Mutation_p.P299H|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.P299H|ADRA1A_ENST00000354550.4_Missense_Mutation_p.P299H			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	299					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAAATCAGGGAAGAAAGA	0.393000													12	58					5.50884e-06	1.30286e-05	0.001368	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558046	140558046	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140558046C>G	ENST00000239444.2	+	1	676	c.431C>G	c.(430-432)tCa>tGa	p.S144*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		144	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAAGTATCAGAGAGCAGT	0.423000													13	49					0	0	0.006122	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510922	26510922	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:26510922C>T	ENST00000531191.1	+	11	1264	c.257C>T	c.(256-258)cCc>cTc	p.P86L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P344L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P351L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	351	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCCCTGCCCATCCCCCCG	0.637000													6	21					0	0	0.001984	0	0
CCSER2	54462	broad.mit.edu	37	10	86133458	86133458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:86133458C>T	ENST00000224756.8	+	3	1686	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	CCSER2_ENST00000372088.2_Missense_Mutation_p.L501F|CCSER2_ENST00000359979.4_Missense_Mutation_p.L501F	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TTCGTTTGAACTCTCTCCATC	0.428000													6	27					0	0	0.001984	0	0
CACNA1D	776	broad.mit.edu	37	3	53796040	53796040	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:53796040G>T	ENST00000288139.3	+	31	3980	c.3862G>T	c.(3862-3864)Gcc>Tcc	p.A1288S	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1268S|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A1268S|CACNA1D_ENST00000540742.1_Missense_Mutation_p.A175S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1268					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTTAGTGACGCCTGGAACAC	0.562000													20	54					3.62473e-10	9.84038e-10	0.001882	1	0
TXLNA	200081	broad.mit.edu	37	1	32660790	32660790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:32660790G>T	ENST00000373609.1	+	10	1916	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	TXLNA_ENST00000373610.3_Missense_Mutation_p.R545S			P40222	TXLNA_HUMAN	taxilin alpha	545					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTCCGCCAGGGCCTAGAGAG	0.647000													18	28					6.94344e-10	1.85882e-09	0.006122	1	0
BRWD3	254065	broad.mit.edu	37	X	79999597	79999597	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:79999597C>G	ENST00000373275.4	-	8	963	c.747G>C	c.(745-747)tgG>tgC	p.W249C		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	249										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCGAAGACACCATACTCTTA	0.413000													8	43					0	0	0.004482	0	0
MARS	4141	broad.mit.edu	37	12	57908991	57908991	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:57908991A>G	ENST00000262027.5	+	18	2397	c.2263A>G	c.(2263-2265)Atg>Gtg	p.M755V	MARS_ENST00000315473.5_Missense_Mutation_p.M521V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	755					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCTCTCTGTCATGCTTCAGCC	0.547000													44	42					0	0	0.002852	0	0
CTNNA3	29119	broad.mit.edu	37	10	68936676	68936676	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:68936676T>C	ENST00000545309.1	-	7	1113	c.1114A>G	c.(1114-1116)Att>Gtt	p.I372V	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron			Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	0					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ctccagaaaataatgcattcc	0.428000													4	8					0	0	0.000602	0	0
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	T	rs146251151		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:116497460G>T	ENST00000410059.1	+	9	1323	c.843G>T	c.(841-843)ccG>ccT	p.P281P	DPP10_ENST00000393147.2_Silent_p.P285P|DPP10_ENST00000409163.1_Silent_p.P231P|DPP10_ENST00000310323.8_Silent_p.P274P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423000													12	47					7.03913e-09	1.8335e-08	0.001368	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408248	105408248	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:105408248G>C	ENST00000333244.5	-	7	13659	c.13540C>G	c.(13540-13542)Cag>Gag	p.Q4514E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4514						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAAGGGGCCTGAATGCGGAGG	0.627000													25	63					0	0	0.005443	0	0
LRP1B	53353	broad.mit.edu	37	2	141299381	141299381	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:141299381C>T	ENST00000389484.3	-	44	8325	c.7354G>A	c.(7354-7356)Gga>Aga	p.G2452R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2452					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTATGATTCCCATTGGCTGA	0.378000										TSP Lung(27;0.18)			15	57					0	0	0.002450	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727499	20727499	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:20727499T>G	ENST00000427401.4	-	4	1604	c.1510A>C	c.(1510-1512)Act>Cct	p.T504P		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	504					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTCTCTCCAGTATGAATTCTC	0.393000													4	16					0	0	0.000248	0	0
WNK1	65125	broad.mit.edu	37	12	977147	977147	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:977147C>T	ENST00000537687.1	+	9	2898	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	WNK1_ENST00000574564.1_Missense_Mutation_p.P51L|WNK1_ENST00000530271.2_Missense_Mutation_p.P837L|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	755					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCTGCCCACCGAAAGTAGCC	0.522000													44	89					0	0	0.002522	0	0
OR2T6	254879	broad.mit.edu	37	1	248551255	248551255	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:248551255G>C	ENST00000355728.2	+	1	346	c.346G>C	c.(346-348)Ggg>Cgg	p.G116R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G116R(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCCTGCTGGGGCTCATGGC	0.567000													18	62					0	0	0.006122	0	0
PACS1	55690	broad.mit.edu	37	11	65995047	65995047	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:65995047G>T	ENST00000320580.4	+	11	1399	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	456					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GACTGAAACAGACACTCTGGT	0.373000													5	23					1.23904e-05	2.89485e-05	0.000602	1	0
METRNL	284207	broad.mit.edu	37	17	81050915	81050915	+	Missense_Mutation	SNP	C	C	T	rs146370282		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:81050915C>T	ENST00000571814.1	+	2	1255	c.314C>T	c.(313-315)cCg>cTg	p.P105L	METRNL_ENST00000570778.1_Missense_Mutation_p.P105L|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Missense_Mutation_p.P187L			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	187						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCTCCAGCGCCGTGCCGTCCC	0.617000													5	17					0	0	0.000602	0	0
RTP3	83597	broad.mit.edu	37	3	46542079	46542079	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:46542079G>A	ENST00000296142.3	+	2	961	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	130					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TATAGAGGAAGATTTCAGTTG	0.463000													13	93					0	0	0.001855	0	0
NLRP13	126204	broad.mit.edu	37	19	56422098	56422098	+	Splice_Site	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:56422098T>A	ENST00000588751.1	-	6	2137	c.2111_splice	c.e6-1	p.T705_splice	NLRP13_ENST00000342929.3_Splice_Site_p.T705_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	705							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACTTGCTTGTCCTTCATGAG	0.438000													18	75					0	0	0.006122	0	0
IFNA4	3441	broad.mit.edu	37	9	21187364	21187364	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:21187364C>A	ENST00000421715.1	-	1	234	c.167G>T	c.(166-168)aGa>aTa	p.R56I		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	56					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAATCATGTCTGTCCTTCAG	0.522000													98	140					5.34484e-38	1.67515e-37	0.003610	1	0
CNTROB	116840	broad.mit.edu	37	17	7851510	7851510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:7851510C>T	ENST00000380262.3	+	16	3170	c.2245C>T	c.(2245-2247)Caa>Taa	p.Q749*	CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q749*|CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q749*|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	749	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAAGCCCCTCAAGTGCCACG	0.537000													17	108					0	0	0.008871	0	0
LRRC36	55282	broad.mit.edu	37	16	67404886	67404886	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:67404886T>C	ENST00000329956.6	+	9	1254	c.1235T>C	c.(1234-1236)gTa>gCa	p.V412A	LRRC36_ENST00000435835.3_Missense_Mutation_p.V291A|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_Missense_Mutation_p.V144A|LRRC36_ENST00000563189.1_Missense_Mutation_p.V291A	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	412										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GACCCTGCTGTACTTGTCAAT	0.473000													36	99					0	0	0.004878	0	0
LETM2	137994	broad.mit.edu	37	8	38258566	38258566	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:38258566G>A	ENST00000379957.4	+	6	1106	c.979G>A	c.(979-981)Gat>Aat	p.D327N	LETM2_ENST00000523983.2_Missense_Mutation_p.D280N|LETM2_ENST00000297720.5_Missense_Mutation_p.D232N|LETM2_ENST00000527710.1_Missense_Mutation_p.D113N|LETM2_ENST00000524874.1_Missense_Mutation_p.D279N|LETM2_ENST00000528827.1_3'UTR|RP11-350N15.3_ENST00000533301.1_RNA	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	327	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AAAAGCAGATGATGAAGTAAG	0.438000													32	46					0	0	0.001786	0	0
FANCB	2187	broad.mit.edu	37	X	14882732	14882732	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:14882732C>G	ENST00000398334.1	-	3	1168	c.901G>C	c.(901-903)Gta>Cta	p.V301L	FANCB_ENST00000324138.3_Missense_Mutation_p.V301L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	301					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ATAAAGGATACAACGAAAAAG	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	39					0	0	0.006214	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790183	39790183	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:39790183G>T	ENST00000553728.1	+	23	3413	c.3200G>T	c.(3199-3201)aGa>aTa	p.R1067I	CTAGE5_ENST00000557038.1_Missense_Mutation_p.R452I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R532I|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R532I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R503I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R503I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R520I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R457I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R537I|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R503I																							TCTGAAACAAGAGCTTTTCTC	0.418000													21	76					1.40151e-16	4.09305e-16	0.001523	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101253	80101253	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80101253C>G	ENST00000466387.1	+	10	1361	c.637C>G	c.(637-639)Ctg>Gtg	p.L213V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L213V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L247V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.L213V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	213					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCGAGGGGCTCTGAAGAAGAA	0.517000													13	35					0	0	0.001368	0	0
COL9A2	1298	broad.mit.edu	37	1	40767556	40767556	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:40767556G>A	ENST00000372748.3	-	31	1894	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	600	Triple-helical region 2 (COL2).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TTCTCTCCACGTTTTCCTGTA	0.488000													5	18					0	0	0.001168	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324786	103324786	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:103324786G>C	ENST00000233969.2	+	12	2419	c.2277G>C	c.(2275-2277)acG>acC	p.T759T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	759						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCACCCAGACGTCAGGCTTAC	0.552000													33	75					0	0	0.003271	0	0
OR4A5	81318	broad.mit.edu	37	11	51411502	51411502	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:51411502G>C	ENST00000319760.6	-	1	946	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTTACCCAAGAGTTTTTCTA	0.353000													4	10					0	0	0.000248	0	0
VPS13B	157680	broad.mit.edu	37	8	100874157	100874157	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:100874157T>A	ENST00000358544.2	+	58	11384	c.11273T>A	c.(11272-11274)cTg>cAg	p.L3758Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L3733Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3758					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTCCCGGCTGGGCATCAGC	0.672000													3	7					0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	113243843	113243843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:113243843C>A	ENST00000297405.5	-	69	11003	c.10759G>T	c.(10759-10761)Gga>Tga	p.G3587*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G3547*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G3418*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G3517*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3587						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGTAGCTCCATCAGGCTCA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	112					0.000151284	0.000337111	0.001855	1	0
F3	2152	broad.mit.edu	37	1	94997899	94997899	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997899G>T	ENST00000334047.7	-	5	892	c.729C>A	c.(727-729)ggC>ggA	p.G243G	F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	243					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CTTTCTCCTGGCCCATACACT	0.532000													17	62					1.78486e-19	5.35459e-19	0.007413	1	0
ALPK2	115701	broad.mit.edu	37	18	56247140	56247140	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:56247140C>T	ENST00000361673.3	-	4	1081	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	290							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGTTGGCCACGGCACTGTCA	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	59					0	0	0.004007	0	0
SLCO1B3	28234	broad.mit.edu	37	12	20968719	20968719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:20968719C>G	ENST00000381545.3	+	3	266	c.47C>G	c.(46-48)tCa>tGa	p.S16*	LST3_ENST00000540229.1_Nonsense_Mutation_p.S16*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S16*|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S16*|SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.S16*|LST3_ENST00000381541.3_Nonsense_Mutation_p.S16*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	16					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCAGCATCTTCAGAGAAAAAG	0.299000													8	39					0	0	0.003080	0	0
PRR22	163154	broad.mit.edu	37	19	5783814	5783814	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:5783814C>A	ENST00000419421.2	-	3	548	c.444G>T	c.(442-444)ccG>ccT	p.P148P		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	146	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGCCCTCAGGCGGGAAGTAGG	0.716000													6	4					0.00116845	0.00246814	0.001168	1	0
PLXNA3	55558	broad.mit.edu	37	X	153695707	153695707	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:153695707C>T	ENST00000369682.3	+	19	3509	c.3334C>T	c.(3334-3336)Cgc>Tgc	p.R1112C		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1112	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.R1112S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAAACGGCCCGCTCCCTCAA	0.652000													9	57					0	0	0.006214	0	0
RXFP2	122042	broad.mit.edu	37	13	32313845	32313845	+	Splice_Site	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:32313845T>C	ENST00000298386.2	+	1	165		c.e1+2		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATGTCAAAGGTAAGGTTGCTA	0.313000													37	36					0	0	0.003755	0	0
OR51I2	390064	broad.mit.edu	37	11	5474807	5474807	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5474807C>A	ENST00000341449.2	+	1	170	c.89C>A	c.(88-90)cCc>cAc	p.P30H	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCAGGGCCCCTCTGCGTG	0.557000													19	29					2.35188e-11	6.52266e-11	0.006122	1	0
COL4A4	1286	broad.mit.edu	37	2	227924220	227924220	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:227924220G>T	ENST00000396625.3	-	28	2491	c.2284C>A	c.(2284-2286)Cct>Act	p.P762T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P762T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	762	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAAATGCAGGGTCTCCCGGG	0.612000													24	70					2.89027e-11	7.93024e-11	0.002299	1	0
ADAM32	203102	broad.mit.edu	37	8	39022556	39022556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:39022556C>T	ENST00000379907.4	+	9	801	c.674C>T	c.(673-675)aCc>aTc	p.T225I	ADAM32_ENST00000437682.2_Missense_Mutation_p.T232I|ADAM32_ENST00000519315.1_Missense_Mutation_p.T225I	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TAGATGTTCACCCAATTTAAA	0.294000													20	60					0	0	0.002299	0	0
PLCE1	51196	broad.mit.edu	37	10	96064340	96064340	+	Nonsense_Mutation	SNP	C	C	T	rs121912604		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:96064340C>T	ENST00000260766.3	+	25	6194	c.5560C>T	c.(5560-5562)Cag>Tag	p.Q1854*	PLCE1_ENST00000371375.1_Nonsense_Mutation_p.Q1546*|PLCE1_ENST00000371380.2_Nonsense_Mutation_p.Q1854*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.Q1546*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1854					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCCCATGTATCAGAAGTTTTC	0.433000													18	80					0	0	0.004990	0	0
UTP20	27340	broad.mit.edu	37	12	101679354	101679354	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:101679354G>A	ENST00000261637.4	+	3	307	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	45					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACAGGAGGTTGAAACCTACTT	0.308000													20	50					0	0	0.008871	0	0
DZIP3	9666	broad.mit.edu	37	3	108373010	108373010	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:108373010G>T	ENST00000361582.3	+	19	2282	c.2052G>T	c.(2050-2052)aaG>aaT	p.K684N	DZIP3_ENST00000463306.1_Missense_Mutation_p.K684N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	684					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGGTAGAAAAGGAAGAGCAGT	0.363000													21	25					2.70639e-06	6.54116e-06	0.002299	1	0
RECK	8434	broad.mit.edu	37	9	36083451	36083451	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:36083451C>T	ENST00000377966.3	+	8	1095	c.529C>T	c.(529-531)Cca>Tca	p.P177S	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	177	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTCTCCTGGTCCATCTCAGAT	0.408000													15	89					0	0	0.004007	0	0
CKB	1152	broad.mit.edu	37	14	103986585	103986585	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:103986585G>C	ENST00000348956.2	-	7	1198	c.841C>G	c.(841-843)Ctc>Gtc	p.L281V		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	281	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGGCAGGTGAGGATGTAGCCC	0.557000													10	30					0	0	0.008291	0	0
MTMR8	55613	broad.mit.edu	37	X	63563520	63563520	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:63563520T>G	ENST00000374852.3	-	8	1013	c.946A>C	c.(946-948)Att>Ctt	p.I316L	MTMR8_ENST00000453546.1_Missense_Mutation_p.I316L|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	316	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCATCCATAATAGCTTTAATG	0.358000													4	15					0	0	0.000602	0	0
ZNF320	162967	broad.mit.edu	37	19	53367282	53367282	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:53367282T>A	ENST00000597909.1	-	6	590	c.354A>T	c.(352-354)tgA>tgT	p.*118C				A2RRD8	ZN320_HUMAN	zinc finger protein 320	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AACATTTTCCTCACCCACAGA	0.468000													18	41					0	0	0.001523	0	0
NLRP3	114548	broad.mit.edu	37	1	247599410	247599410	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:247599410C>A	ENST00000336119.3	+	6	3383	c.2637C>A	c.(2635-2637)gcC>gcA	p.A879A	NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Silent_p.A822A|NLRP3_ENST00000391828.3_Silent_p.A879A	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	879					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAAAAAGCCAAGAATCCAC	0.438000													17	29					6.94344e-10	1.85882e-09	0.006122	1	0
LRIT1	26103	broad.mit.edu	37	10	85992040	85992040	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:85992040G>T	ENST00000372105.3	-	4	1536	c.1515C>A	c.(1513-1515)ccC>ccA	p.P505P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	505	Fibronectin type-III.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCTCCTTCCGGGGCACCAGGC	0.552000													6	15					8.12818e-05	0.000182706	0.001984	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716163	13716163	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:13716163C>G	ENST00000279593.3	-	13	4218	c.4009G>C	c.(4009-4011)Gcc>Ccc	p.A1337P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1337					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACATGTGGGCGTAGGGGCTC	0.612000													28	67					0	0	0.004656	0	0
NUS1	116150	broad.mit.edu	37	6	118015291	118015291	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:118015291G>A	ENST00000368494.3	+	3	808	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	213					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TAGTAGCCCAGAAGCAAAAGA	0.368000													5	73					0	0	0.000602	0	0
DLL3	10683	broad.mit.edu	37	19	39994757	39994757	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:39994757G>T	ENST00000205143.4	+	5	706	c.699G>T	c.(697-699)caG>caT	p.Q233H	DLL3_ENST00000356433.5_Missense_Mutation_p.Q233H	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	233	EGF-like 1.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTGTGAACAGCCCGGTGAAT	0.647000													9	47					3.86212e-05	8.80975e-05	0.008291	1	0
NCOR2	9612	broad.mit.edu	37	12	124862827	124862827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124862827G>A	ENST00000356219.3	-	19	2278	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	NCOR2_ENST00000429285.2_Missense_Mutation_p.S707L|NCOR2_ENST00000405201.1_Missense_Mutation_p.S708L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S278L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S707L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S708L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	708					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCACGCCCGACGCCTCCAT	0.667000													24	50					0	0	0.003330	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196611	8196611	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:8196611G>T	ENST00000162391.3	+	5	1687	c.542G>T	c.(541-543)gGa>gTa	p.G181V	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G181V	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	181					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCAGGGAGTGGAGAAGCCTCA	0.542000													20	89					7.21436e-19	2.1476e-18	0.008871	1	0
UBBP4	23666	broad.mit.edu	37	17	21731540	21731540	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:21731540C>T	ENST00000578713.1	+	2	619	c.615C>T	c.(613-615)ggC>ggT	p.G205G	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TGGAAGATGGCCGCACTCTTT	0.527000													7	22					0	0	0.001984	0	0
IPO8	10526	broad.mit.edu	37	12	30792543	30792543	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:30792543G>A	ENST00000256079.4	-	21	2733	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	IPO8_ENST00000544829.1_Missense_Mutation_p.H594Y	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	799					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTAAAGTATGTAGCAGCAAA	0.403000													25	49					0	0	0.003954	0	0
GEM	2669	broad.mit.edu	37	8	95272561	95272561	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:95272561G>T	ENST00000297596.2	-	2	435	c.171C>A	c.(169-171)agC>agA	p.S57R	GEM_ENST00000396194.2_Missense_Mutation_p.S57R	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	57					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGAGGACCAGCTTCGGCGGC	0.602000													8	71					5.18039e-06	1.22895e-05	0.003080	1	0
AKAP9	10142	broad.mit.edu	37	7	91694575	91694575	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:91694575A>G	ENST00000359028.2	+	26	6269	c.6044A>G	c.(6043-6045)aAg>aGg	p.K2015R	AKAP9_ENST00000358100.2_Missense_Mutation_p.K2015R|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.K2003R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2015	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			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)			AAATTAATGAAGGAAAAACTA	0.299000			T	BRAF	papillary thyroid								28	27					0	0	0.008361	0	0
ENPP4	22875	broad.mit.edu	37	6	46107690	46107690	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:46107690C>G	ENST00000321037.4	+	2	600	c.370C>G	c.(370-372)Cag>Gag	p.Q124E		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	124						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GGTGACCAATCAGCTTCAGGA	0.413000													19	69					0	0	0.007413	0	0
SOX5	6660	broad.mit.edu	37	12	23689547	23689547	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:23689547C>G	ENST00000546136.1	-	13	1791	c.1789G>C	c.(1789-1791)Gcc>Ccc	p.A597P	SOX5_ENST00000381381.2_Missense_Mutation_p.A489P|SOX5_ENST00000541536.1_Missense_Mutation_p.A489P|SOX5_ENST00000537393.1_Missense_Mutation_p.A575P|SOX5_ENST00000396007.2_Missense_Mutation_p.A224P|SOX5_ENST00000309359.1_Missense_Mutation_p.A597P|SOX5_ENST00000545921.1_Missense_Mutation_p.A600P|SOX5_ENST00000451604.2_Missense_Mutation_p.A610P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	610					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGACGGGCTTGCTCCTCA	0.493000													31	89					0	0	0.001786	0	0
SELP	6403	broad.mit.edu	37	1	169572435	169572435	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:169572435G>T	ENST00000263686.6	-	10	1571	c.1534C>A	c.(1534-1536)Cct>Act	p.P512T	SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P450T|SELP_ENST00000367793.2_Missense_Mutation_p.P450T|SELP_ENST00000367791.2_Missense_Mutation_p.P388T|SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.P450T|SELP_ENST00000367788.2_Missense_Mutation_p.P450T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	512	Sushi 6.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTTAGCAAAGGTGTGCAGGGA	0.433000													42	68					2.24722e-20	6.768e-20	0.003610	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926854	130926854	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:130926854C>A	ENST00000261655.4	-	8	1155	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S239I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S239I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	331	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACGTTGTAGCTGCTCACCGT	0.562000													19	99					1.96292e-10	5.34775e-10	0.001523	1	0
RHBDL3	162494	broad.mit.edu	37	17	30615953	30615953	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:30615953G>A	ENST00000269051.4	+	4	451	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	RHBDL3_ENST00000536287.1_Missense_Mutation_p.R48Q|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R138Q	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	146					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				ACCCTGCCCCGGGAAATTGAC	0.617000													13	68					0	0	0.001855	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227162	25227162	+	RNA	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr15:25227162T>A	ENST00000551631.2	+	0	465				SNHG14_ENST00000459433.1_RNA|SNHG14_ENST00000551361.1_RNA	NR_001293.1																						ACACAGGACCTTGTCTGAACA	0.368000													102	147					0	0	0.003610	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427226	38427226	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:38427226G>T	ENST00000322350.5	+	14	2272	c.1926G>T	c.(1924-1926)cgG>cgT	p.R642R	EGFLAM_ENST00000354891.3_Silent_p.R642R|EGFLAM_ENST00000397202.2_Silent_p.R8R|EGFLAM_ENST00000336740.6_Silent_p.R408R|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	642	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCACATTTCGGCCAGACTCAG	0.527000													30	169					2.4375e-19	7.28415e-19	0.007291	1	0
USH2A	7399	broad.mit.edu	37	1	216595476	216595476	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:216595476T>A	ENST00000366943.2	-	2	589	c.203A>T	c.(202-204)cAc>cTc	p.H68L	USH2A_ENST00000307340.3_Missense_Mutation_p.H68L|USH2A_ENST00000366942.3_Missense_Mutation_p.H68L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	68					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCAGAGCTGTGACAAAAAGT	0.493000										HNSCC(13;0.011)			21	26					0	0	0.008871	0	0
TRPM3	80036	broad.mit.edu	37	9	73151901	73151901	+	Silent	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:73151901T>A	ENST00000377110.2	-	25	4335	c.4092A>T	c.(4090-4092)ctA>ctT	p.L1364L	TRPM3_ENST00000396292.4_Silent_p.L1236L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Silent_p.L1236L|TRPM3_ENST00000360823.2_Silent_p.L1226L|TRPM3_ENST00000408909.2_Silent_p.L1223L|TRPM3_ENST00000377105.1_Silent_p.L1223L|TRPM3_ENST00000357533.2_Silent_p.L1368L|TRPM3_ENST00000396280.5_Silent_p.L1213L|TRPM3_ENST00000358082.3_Silent_p.L1226L|TRPM3_ENST00000423814.3_Silent_p.L1391L|TRPM3_ENST00000396285.1_Silent_p.L1223L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1389						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TAGCCCGGTGTAGGCTCAGGG	0.463000													36	114					0	0	0.002836	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555719	155555719	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:155555719C>A	ENST00000295101.2	+	1	909	c.432C>A	c.(430-432)atC>atA	p.I144I	KCNJ3_ENST00000544049.1_Silent_p.I144I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	144					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGCCACCATCGGCTATGGCT	0.557000													8	35					1.12685e-05	2.64879e-05	0.004482	1	0
SLC23A3	151295	broad.mit.edu	37	2	220034009	220034009	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:220034009C>G	ENST00000455516.2	-	3	487	c.440G>C	c.(439-441)aGg>aCg	p.R147T	SLC23A3_ENST00000409878.3_Intron|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	139					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCTTACCCCTTGCCCTTGC	0.567000													26	53					0	0	0.005443	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721186	222721186	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:222721186G>A	ENST00000343410.6	-	1	259	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	67					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567000													8	43					0	0	0.004482	0	0
MYB	4602	broad.mit.edu	37	6	135522834	135522834	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:135522834G>A	ENST00000341911.5	+	14	2207	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.D654N|MYB_ENST00000367814.4_Missense_Mutation_p.D549N|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Missense_Mutation_p.D464N|MYB_ENST00000316528.8_Missense_Mutation_p.D549N|MYB_ENST00000527615.1_Missense_Mutation_p.D549N|MYB_ENST00000533624.1_Missense_Mutation_p.D514N|MYB_ENST00000528774.1_Missense_Mutation_p.D667N|MYB_ENST00000442647.2_Missense_Mutation_p.D546N	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	549					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTGGGAAGGGGACAGTCTGAA	0.483000			T	NFIB	adenoid cystic carcinoma								6	19					0	0	0.001984	0	0
SORCS1	114815	broad.mit.edu	37	10	108377909	108377909	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:108377909T>A	ENST00000263054.6	-	21	2925	c.2918A>T	c.(2917-2919)tAt>tTt	p.Y973F	SORCS1_ENST00000344440.6_Missense_Mutation_p.Y973F|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.Y508F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	973						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTCACCATATACTGCGAT	0.478000													13	61					0	0	0.001855	0	0
REG1P	5969	broad.mit.edu	37	2	79363173	79363173	+	RNA	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:79363173G>A	ENST00000444841.1	-	0	1165																											AGGAGACCAGGGACCCACTAC	0.527000													3	14					0	0	0.004672	0	0
FAM73A	374986	broad.mit.edu	37	1	78324717	78324717	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:78324717G>T	ENST00000370791.3	+	9	1123	c.1091G>T	c.(1090-1092)gGa>gTa	p.G364V	FAM73A_ENST00000443751.2_Missense_Mutation_p.G326V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	364						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTTGAAGAAGGAAAAATTTAC	0.383000													6	35					3.59834e-05	8.23239e-05	0.001168	1	0
OR51G1	79324	broad.mit.edu	37	11	4945221	4945221	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:4945221G>A	ENST00000321961.2	-	1	416	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGATAACAGAACTGATGAC	0.507000													10	30					0	0	0.006214	0	0
FLII	2314	broad.mit.edu	37	17	18155815	18155815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:18155815C>T	ENST00000327031.4	-	10	1294	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	FLII_ENST00000579294.1_Missense_Mutation_p.E346K|FLII_ENST00000578558.1_Missense_Mutation_p.E357K|FLII_ENST00000379450.4_Missense_Mutation_p.E272K|FLII_ENST00000545457.2_Missense_Mutation_p.E303K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	357	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGGATGGCTTCTGGGAGGGTC	0.587000													10	72					0	0	0.006214	0	0
CSPP1	79848	broad.mit.edu	37	8	68044264	68044264	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:68044264G>A	ENST00000262210.5	+	14	1792	c.1761G>A	c.(1759-1761)ccG>ccA	p.P587P	CSPP1_ENST00000412460.1_Silent_p.P293P	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	622						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGATAAACCGAAACCTTCCA	0.353000													11	60					0	0	0.001855	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682000													3	70					0	0	0.000248	0	0
FAIM	55179	broad.mit.edu	37	3	138338576	138338576	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:138338576C>T	ENST00000360570.3	+	2	262	c.8C>T	c.(7-9)tCt>tTt	p.S3F	FAIM_ENST00000393035.2_Intron|FAIM_ENST00000393034.2_Intron|FAIM_ENST00000338446.4_Intron	NM_001033031.1	NP_001028203.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	0					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCATGGCATCTGGAGATGAC	0.348000													44	69					0	0	0.002522	0	0
VASH2	79805	broad.mit.edu	37	1	213134597	213134597	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:213134597G>T	ENST00000366968.4	+	4	520		c.e4+1		VASH2_ENST00000366967.2_Splice_Site|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366966.2_Splice_Site|VASH2_ENST00000366965.2_Splice_Site|VASH2_ENST00000366964.3_Splice_Site|VASH2_ENST00000517399.1_Splice_Site	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2						positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGACCCTACAGTATCCTTCCA	0.537000													46	89					7.05121e-23	2.15734e-22	0.002522	1	0
OR5L1	219437	broad.mit.edu	37	11	55579653	55579653	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55579653C>T	ENST00000333973.2	+	1	800	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCACAAAGCCTTCTCCACCT	0.502000													23	68					0	0	0.002780	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86569411	86569411	+	Silent	SNP	T	T	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:86569411T>G	ENST00000450689.2	-	6	947	c.762A>C	c.(760-762)acA>acC	p.T254T	KIAA1324L_ENST00000297222.6_Silent_p.T14T|KIAA1324L_ENST00000416314.1_Silent_p.T87T|KIAA1324L_ENST00000444627.1_Silent_p.T254T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	254						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGAGTATGTTTGTGCCTGATT	0.398000													12	43					0	0	0.000978	0	0
PLCB1	23236	broad.mit.edu	37	20	8637904	8637904	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr20:8637904C>A	ENST00000378641.3	+	8	1143	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PLCB1_ENST00000378637.2_Missense_Mutation_p.P223H|PLCB1_ENST00000338037.6_Missense_Mutation_p.P223H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	223					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCCCTCGACCTGAAATTGAT	0.393000													10	71					4.68919e-08	1.18926e-07	0.008291	1	0
LINC00303	284573	broad.mit.edu	37	1	204006319	204006319	+	RNA	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:204006319G>A	ENST00000367207.3	-	0	701																											CCTGCTGGCTGAGGAAGGGAT	0.527000													5	7					0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158641851	158641851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:158641851C>A	ENST00000368148.3	-	11	1666	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E496*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	496					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCGTTACCTCTTGTCTACTC	0.493000													40	47					3.7052e-28	1.1519e-27	0.003214	1	0
POU3F1	5453	broad.mit.edu	37	1	38511546	38511546	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:38511546C>G	ENST00000373012.2	-	1	904	c.870G>C	c.(868-870)caG>caC	p.Q290H		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	290	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGATGGTGGTCTGCGAGAACA	0.612000													15	67					0	0	0.004007	0	0
PCDH17	27253	broad.mit.edu	37	13	58206853	58206853	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:58206853G>C	ENST00000377918.3	+	1	199	c.173G>C	c.(172-174)cGc>cCc	p.R58P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	58	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGGAGGGCGCAGCAAGTCG	0.692000													4	12					0	0	0.000248	0	0
GPR128	84873	broad.mit.edu	37	3	100365491	100365491	+	Missense_Mutation	SNP	G	G	T	rs143826267	byFrequency	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:100365491G>T	ENST00000273352.3	+	10	1457	c.1189G>T	c.(1189-1191)Ggc>Tgc	p.G397C	GPR128_ENST00000475887.1_Missense_Mutation_p.G102C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	397	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G397C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGACACATATGGCTGTCAAAA	0.393000													6	40					1.06961e-07	2.69501e-07	0.003080	1	0
SDC1	6382	broad.mit.edu	37	2	20402571	20402571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:20402571C>A	ENST00000381150.1	-	6	1279	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	SDC1_ENST00000254351.4_Missense_Mutation_p.G297W|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	297					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGTAGGCCCCGCCGTTGGCT	0.602000													7	253					0.00198382	0.00416764	0.001984	1	0
CBLN2	147381	broad.mit.edu	37	18	70209167	70209167	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr18:70209167C>A	ENST00000269503.4	-	3	1002	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.A77S|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	77						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GAGGTGACGGCGCCGTCCGCC	0.711000													8	15					0.000157383	0.00034969	0.003080	1	0
PPM1F	9647	broad.mit.edu	37	22	22285593	22285593	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr22:22285593C>A	ENST00000407142.1	-	4	1374	c.314G>T	c.(313-315)gGg>gTg	p.G105V	PPM1F_ENST00000397495.4_Missense_Mutation_p.G273V|PPM1F_ENST00000538191.1_Missense_Mutation_p.G169V|PPM1F_ENST00000263212.5_Missense_Mutation_p.G273V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	273	Poly-Glu.				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGAATCCCCGAGCCAGGC	0.632000													21	52					1.9806e-07	4.97408e-07	0.002299	1	0
SMYD2	56950	broad.mit.edu	37	1	214488115	214488115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:214488115G>A	ENST00000366957.5	+	3	270	c.248G>A	c.(247-249)tGg>tAg	p.W83*	SMYD2_ENST00000415093.2_Nonsense_Mutation_p.W83*|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	83					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AAAGAAGATTGGCCCATGCAC	0.428000													10	52					0	0	0.000978	0	0
OR5V1	81696	broad.mit.edu	37	6	29323758	29323758	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:29323758C>A	ENST00000377154.1	-	4	514	c.215G>T	c.(214-216)tGc>tTc	p.C72F	OR5V1_ENST00000543825.1_Missense_Mutation_p.C72F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTGGTGTAGCAGATGTCAAT	0.408000													25	78					1.16021e-09	3.09523e-09	0.007291	1	0
LRRTM1	347730	broad.mit.edu	37	2	80529767	80529767	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:80529767G>T	ENST00000295057.3	-	2	1834	c.1178C>A	c.(1177-1179)aCg>aAg	p.T393K	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T393K|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	393						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTCCGCGAGCGTGGTGGCCGA	0.716000										HNSCC(69;0.2)			11	32					1.5842e-08	4.07139e-08	0.001855	1	0
COL17A1	1308	broad.mit.edu	37	10	105793987	105793987	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:105793987C>T	ENST00000353479.5	-	52	4162	c.3872G>A	c.(3871-3873)gGt>gAt	p.G1291D	COL17A1_ENST00000369733.3_Missense_Mutation_p.G1209D	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1291	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGCTGCTACCCCGACTGTG	0.672000													4	21					0	0	0.000248	0	0
GJC3	349149	broad.mit.edu	37	7	99526840	99526840	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:99526840C>A	ENST00000312891.2	-	1	403	c.404G>T	c.(403-405)tGg>tTg	p.W135L		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	135						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CACATAAGCCCAGAGCAGCCT	0.617000													35	208					1.21669e-08	3.14788e-08	0.003271	1	0
CCDC138	165055	broad.mit.edu	37	2	109405345	109405345	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:109405345A>T	ENST00000295124.4	+	3	249	c.189A>T	c.(187-189)tcA>tcT	p.S63S	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Silent_p.S63S	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	63										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AAGTTGGTTCATCGTTAAAAT	0.358000													18	39					0	0	0.007413	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142292826	142292826	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:142292826G>T	ENST00000378004.3	+	10	1351	c.996G>T	c.(994-996)aaG>aaT	p.K332N	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K332N	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	332	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTGAGAAGAGGTTTTGCT	0.428000													15	55					1.52009e-12	4.30879e-12	0.003163	1	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193223	90193223	+	RNA	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:90193223C>A	ENST00000390275.2	+	0	330																											CAAGTCAGGGCATTAGCAGTG	0.532000													35	134					1.49673e-21	4.54323e-21	0.006230	1	0
TIMM9	26520	broad.mit.edu	37	14	58875876	58875876	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:58875876G>A	ENST00000395159.2	-	6	671	c.146C>T	c.(145-147)tCa>tTa	p.S49L	RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Intron|TIMM9_ENST00000555593.1_Missense_Mutation_p.S49L|TIMM9_ENST00000555404.1_Missense_Mutation_p.S49L|TIMM9_ENST00000216463.4_5'UTR|TIMM9_ENST00000555061.1_Missense_Mutation_p.S49L	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	49					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						GCAATGTTCTGAACAGGTGGT	0.348000													23	15					0	0	0.002299	0	0
GSTCD	79807	broad.mit.edu	37	4	106744222	106744222	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:106744222G>A	ENST00000515279.1	+	6	1572	c.1352G>A	c.(1351-1353)gGt>gAt	p.G451D	GSTCD_ENST00000360505.5_Missense_Mutation_p.G451D|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394730.3_Missense_Mutation_p.G364D|RP11-45L9.1_ENST00000509003.1_RNA|RP11-45L9.1_ENST00000504955.1_RNA|RP11-45L9.1_ENST00000506527.1_RNA|GSTCD_ENST00000394728.3_Missense_Mutation_p.G451D			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	451						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCTGCAGCGGTGGGGTATTT	0.383000													25	75					0	0	0.003330	0	0
PANK4	55229	broad.mit.edu	37	1	2452658	2452658	+	Missense_Mutation	SNP	C	C	T	rs140699365	by1000genomes	TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:2452658C>T	ENST00000378466.3	-	3	316	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	PANK4_ENST00000435556.3_Missense_Mutation_p.E102K	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	102					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCAGGCTTCGATGTAGGTA	0.507000													39	104					0	0	0.005524	0	0
DST	667	broad.mit.edu	37	6	56371281	56371281	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:56371281T>A	ENST00000370754.5	-	77	19330	c.19331A>T	c.(19330-19332)gAg>gTg	p.E6444V	DST_ENST00000370769.4_Missense_Mutation_p.E6266V|DST_ENST00000421834.2_Missense_Mutation_p.E4178V|DST_ENST00000370788.2_Missense_Mutation_p.E4069V|DST_ENST00000244364.6_Missense_Mutation_p.E3852V|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E5940V|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.E6155V			Q03001	DYST_HUMAN	dystonin	6264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCATTGCCTCCTCAAGTTT	0.418000													5	32					0	0	0.000602	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956626	73956626	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:73956626G>A	ENST00000358602.4	-	29	6835	c.6719C>T	c.(6718-6720)cCt>cTt	p.P2240L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2127L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1989L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2240					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGAGCAATAGGCTTATTTGC	0.458000													49	224					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34204749	34204749	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:34204749C>T	ENST00000373381.4	-	15	2536	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	747	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTCACACCGCAGCACAGC	0.617000													8	16					0	0	0.003080	0	0
GPR75	10936	broad.mit.edu	37	2	54081598	54081598	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:54081598G>A	ENST00000394705.2	-	2	566	c.296C>T	c.(295-297)cCc>cTc	p.P99L	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	99	Phe-rich.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTGAACATGGGGGCTGTCAC	0.458000													7	95					0	0	0.001984	0	0
ANK2	287	broad.mit.edu	37	4	114284553	114284553	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:114284553C>A	ENST00000357077.4	+	40	10869	c.10816C>A	c.(10816-10818)Ccc>Acc	p.P3606T	ANK2_ENST00000394537.3_Missense_Mutation_p.P1521T|ANK2_ENST00000510275.2_Missense_Mutation_p.P173T|ANK2_ENST00000506722.1_Missense_Mutation_p.P1512T|ANK2_ENST00000264366.6_Missense_Mutation_p.P3573T|ANK2_ENST00000509550.1_Missense_Mutation_p.P697T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3573	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATTGAAAATCCCAACTCTCT	0.383000													11	42					1.58986e-06	3.90377e-06	0.008291	1	0
FOXG1	2290	broad.mit.edu	37	14	29237169	29237169	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr14:29237169C>A	ENST00000382535.3	+	2	1053	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXG1_ENST00000313071.4_Silent_p.S228S			P55316	FOXG1_HUMAN	forkhead box G1	228					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAGAACTCCATCCGCCACA	0.597000													15	9					2.32078e-09	6.10691e-09	0.003163	1	0
GBA3	57733	broad.mit.edu	37	4	22749401	22749401	+	RNA	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:22749401C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTGCTAAACCCATATTCAT	0.448000													18	68					3.52763e-06	8.4466e-06	0.004990	1	0
OR4D10	390197	broad.mit.edu	37	11	59245729	59245729	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:59245729C>A	ENST00000530162.1	+	1	884	c.827C>A	c.(826-828)aCt>aAt	p.T276N		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCACCTTCACTGTCATCTCC	0.527000													28	113					2.61193e-14	7.51418e-14	0.001786	1	0
CABP4	57010	broad.mit.edu	37	11	67223649	67223649	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:67223649C>T	ENST00000438189.2	+	3	386	c.42C>T	c.(40-42)ctC>ctT	p.L14L	CABP4_ENST00000325656.5_Intron			P57796	CABP4_HUMAN	calcium binding protein 4	0					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGGACTCTCCCCCTGCAGG	0.672000													16	55					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179613245	179613245	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:179613245G>T	ENST00000360870.5	-	46	14104	c.13882C>A	c.(13882-13884)Cca>Aca	p.P4628T	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	742	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAGCTGGATCTCCTATA	0.378000													21	71					8.04996e-18	2.37798e-17	0.001882	1	0
DOCK2	1794	broad.mit.edu	37	5	169468122	169468122	+	Silent	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:169468122G>C	ENST00000256935.8	+	37	3809	c.3729G>C	c.(3727-3729)acG>acC	p.T1243T	DOCK2_ENST00000540750.1_Silent_p.T304T|DOCK2_ENST00000520908.1_Silent_p.T735T|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1243	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCCTACACGCTCCTTCTCC	0.502000													3	23					0	0	0.004672	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122307	17122307	+	Silent	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:17122307G>A	ENST00000443236.1	-	5	625	c.594C>T	c.(592-594)acC>acT	p.T198T	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Silent_p.T151T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	151						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGAGAGACGGTGAAGATGC	0.587000													30	70					0	0	0.002096	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994781	143994781	+	Silent	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:143994781G>T	ENST00000323110.2	-	6	1043	c.1041C>A	c.(1039-1041)gcC>gcA	p.A347A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	347					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCTGGCTGCGGCGGCCAGGC	0.642000									Familial Hyperaldosteronism type I				15	93					3.45872e-05	7.96021e-05	0.004007	1	0
HGF	3082	broad.mit.edu	37	7	81386541	81386541	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:81386541C>T	ENST00000222390.5	-	4	672	c.446G>A	c.(445-447)tGt>tAt	p.C149Y	HGF_ENST00000423064.2_Missense_Mutation_p.C149Y|HGF_ENST00000453018.1_Missense_Mutation_p.C46Y|HGF_ENST00000457544.2_Missense_Mutation_p.C149Y|HGF_ENST00000453411.1_Missense_Mutation_p.C149Y|HGF_ENST00000444829.2_Missense_Mutation_p.C149Y|HGF_ENST00000354224.6_Missense_Mutation_p.C149Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	149	Kringle 1.				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			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						CCAGGGCTGACATTTGATGCC	0.383000													16	34					0	0	0.004007	0	0
C2orf78	388960	broad.mit.edu	37	2	74043891	74043891	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:74043891C>A	ENST00000409561.1	+	3	2662	c.2541C>A	c.(2539-2541)atC>atA	p.I847I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	847										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AATTTCTAATCCAAGACTTCA	0.527000													20	79					0.000132079	0.000295168	0.008871	1	0
NFXL1	152518	broad.mit.edu	37	4	47857090	47857090	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:47857090T>A	ENST00000507489.1	-	20	2583	c.2407A>T	c.(2407-2409)Aaa>Taa	p.K803*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.K803*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	803						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTATTCTTTTACAAGGACAT	0.299000													15	51					0	0	0.003163	0	0
XIRP1	165904	broad.mit.edu	37	3	39229057	39229057	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:39229057G>T	ENST00000340369.3	-	2	2108	c.1880C>A	c.(1879-1881)aCc>aAc	p.T627N	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.T627N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	627	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAACATCCAGGTGCAGGACTG	0.597000													24	49					2.89027e-11	7.93024e-11	0.002299	1	0
MKRN3	7681	broad.mit.edu	37	15	23811612	23811612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr15:23811612C>A	ENST00000314520.3	+	1	1159	c.683C>A	c.(682-684)tCa>tAa	p.S228*	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	228						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTACAGAGCTCAGAGACTGAG	0.582000													14	33					1.52009e-12	4.30879e-12	0.003163	1	0
OR5D14	219436	broad.mit.edu	37	11	55563722	55563722	+	Missense_Mutation	SNP	C	C	A	rs143761060		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:55563722C>A	ENST00000335605.1	+	1	691	c.691C>A	c.(691-693)Cgt>Agt	p.R231S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473000													15	81					3.45872e-05	7.96021e-05	0.004007	1	0
NAV3	89795	broad.mit.edu	37	12	78562638	78562638	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:78562638C>A	ENST00000397909.2	+	24	5146	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	NAV3_ENST00000228327.6_Missense_Mutation_p.P1658H|NAV3_ENST00000266692.7_Missense_Mutation_p.P1481H|NAV3_ENST00000536525.2_Missense_Mutation_p.P1658H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1658						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCAGACCATCCTCCCAAAGGT	0.378000										HNSCC(70;0.22)			19	75					1.15919e-05	2.71651e-05	0.008871	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319578	21319578	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:21319578G>C	ENST00000583088.1	+	3	1819	c.924G>C	c.(922-924)atG>atC	p.M308I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.M308I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCACAGCCATGACCACCCAGG	0.607000										Prostate(3;0.18)			5	101					0	0	0.000602	0	0
KIAA1432	57589	broad.mit.edu	37	9	5765719	5765719	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:5765719C>A	ENST00000414202.2	+	21	3249	c.3058C>A	c.(3058-3060)Cag>Aag	p.Q1020K	KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q941K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q941K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q904K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q1020K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1020						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CAGTTTATCCCAGTCAGCTGA	0.398000													23	2725					0.00010058	0.000225428	0.001368	1	0
OR5B17	219965	broad.mit.edu	37	11	58126434	58126434	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:58126434G>T	ENST00000357377.3	-	1	108	c.109C>A	c.(109-111)Ctg>Atg	p.L37M		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCCCAGTCAGAGTGATGAGG	0.458000													10	61					0.000442599	0.000953196	0.006214	1	0
BUB1	699	broad.mit.edu	37	2	111417591	111417591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:111417591C>T	ENST00000535254.1	-	10	1247	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	BUB1_ENST00000409311.1_Missense_Mutation_p.E414K|BUB1_ENST00000302759.6_Missense_Mutation_p.E414K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	414					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGCTTGAATTCATGAGTACTC	0.413000													5	21					0	0	0.001168	0	0
SV2C	22987	broad.mit.edu	37	5	75428020	75428020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:75428020C>T	ENST00000502798.2	+	2	887	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	SV2C_ENST00000322285.7_Missense_Mutation_p.R149C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	149					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGTCATGGTCGTTTTCAGTG	0.527000													23	80					0	0	0.001882	0	0
ARPC4	10093	broad.mit.edu	37	3	9841894	9841894	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:9841894C>T	ENST00000397261.3	+	3	712	c.148C>T	c.(148-150)Cct>Tct	p.P50S	ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000433034.1_Missense_Mutation_p.P69S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P50S|ARPC4_ENST00000498623.2_5'UTR	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					CCTGTTACAACCTGTGACCAT	0.478000													11	44					0	0	0.000978	0	0
FLT4	2324	broad.mit.edu	37	5	180043408	180043408	+	Silent	SNP	G	G	T	rs68096331		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:180043408G>T	ENST00000261937.6	-	23	3256	c.3178C>A	c.(3178-3180)Cgg>Agg	p.R1060R	FLT4_ENST00000393347.3_Silent_p.R1060R|FLT4_ENST00000502649.1_Silent_p.R1060R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1060	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGATGTCCCGGGCAAGGCCA	0.617000													12	48					3.07112e-06	7.37642e-06	0.000978	1	0
CEP170	9859	broad.mit.edu	37	1	243349134	243349134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:243349134C>A	ENST00000366542.1	-	10	1564	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	505						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCTCTAACTCAATGGTATAA	0.353000													24	107					9.78306e-22	2.98132e-21	0.001786	1	0
CNTN6	27255	broad.mit.edu	37	3	1269678	1269678	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:1269678G>T	ENST00000446702.2	+	4	985		c.e4+1		CNTN6_ENST00000539053.1_Splice_Site|CNTN6_ENST00000350110.2_Splice_Site			Q9UQ52	CNTN6_HUMAN	contactin 6						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAATTTGCATGTGAGTTTGGG	0.383000													28	95					7.63215e-27	2.35376e-26	0.001786	1	0
LRRC7	57554	broad.mit.edu	37	1	70460276	70460276	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:70460276G>A	ENST00000310961.5	+	12	1283	c.865G>A	c.(865-867)Gat>Aat	p.D289N	LRRC7_ENST00000035383.5_Missense_Mutation_p.D284N|LRRC7_ENST00000415775.2_De_novo_Start_InFrame			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	284						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTAAAAGTAGATGACAATCA	0.328000													14	64					0	0	0.004990	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279531	217279531	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:217279531G>A	ENST00000357276.4	+	3	434	c.104G>A	c.(103-105)aGg>aAg	p.R35K	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R35K	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	35					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCATCAGAGGACTAGCTCG	0.522000									Schimke Immuno-Osseous Dysplasia				30	94					0	0	0.002096	0	0
ZNF615	284370	broad.mit.edu	37	19	52505068	52505068	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr19:52505068G>T	ENST00000602063.1	-	5	585	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	ZNF615_ENST00000598071.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000597747.1_Missense_Mutation_p.S79Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.S84Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.S79Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.S79Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCACTCACCAGAACAGATTCG	0.507000													8	33					5.18039e-06	1.22895e-05	0.003080	1	0
F3	2152	broad.mit.edu	37	1	94997876	94997876	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:94997876C>T	ENST00000334047.7	-	5	915		c.e5+1		F3_ENST00000370207.4_Intron	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)						activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GAGCCACTCACCTCTGAATTC	0.542000													16	54					0	0	0.004990	0	0
PHKA2	5256	broad.mit.edu	37	X	18913306	18913306	+	Missense_Mutation	SNP	G	G	A	rs148627941		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:18913306G>A	ENST00000379942.4	-	31	3951	c.3286C>T	c.(3286-3288)Cac>Tac	p.H1096Y	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1096	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAGAGACCGTGGCACTGGAGG	0.552000													23	65					0	0	0.001882	0	0
WDR17	116966	broad.mit.edu	37	4	177098210	177098210	+	Splice_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr4:177098210C>A	ENST00000393643.2	+	28	3748	c.3494_splice	c.e28-1	p.Q1166_splice	WDR17_ENST00000280190.4_Splice_Site_p.Q1190_splice|WDR17_ENST00000507824.2_Splice_Site_p.Q1165_splice|WDR17_ENST00000508596.1_Splice_Site_p.Q1151_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1190										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CACGTTCAGTCAGCTATTAAA	0.348000													8	29					5.4927e-09	1.43555e-08	0.004482	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973487	29973487	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:29973487G>C	ENST00000378993.1	+	11	2314	c.1641G>C	c.(1639-1641)ttG>ttC	p.L547F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L547F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	547	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCAACAAGTTGAACTCCAAGT	0.448000													7	16					0	0	0.001984	0	0
GPC3	2719	broad.mit.edu	37	X	133087117	133087117	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:133087117C>A	ENST00000370818.3	-	2	742	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.E99D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	99						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGAACTTGAGCTCCATACTTG	0.438000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				31	174					5.60225e-13	1.59975e-12	0.001786	1	0
PFKFB1	5207	broad.mit.edu	37	X	54978369	54978369	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:54978369C>G	ENST00000375006.3	-	8	885	c.815G>C	c.(814-816)gGt>gCt	p.G272A	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.G207A	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	272	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCCAGAGTCACCTCCGATGCG	0.582000													8	11					0	0	0.004482	0	0
C7orf60	154743	broad.mit.edu	37	7	112462106	112462106	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:112462106C>T	ENST00000297145.4	-	5	1076	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	304										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTACTTGAAGCGTTTAAAGCC	0.398000													15	39					0	0	0.004007	0	0
LPA	4018	broad.mit.edu	37	6	161015034	161015034	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:161015034C>T	ENST00000447678.1	-	23	3705	c.3585G>A	c.(3583-3585)atG>atA	p.M1195I	LPA_ENST00000316300.5_Missense_Mutation_p.M1195I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3703	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGTGGTGTCATAGAGGACC	0.488000													14	63					0	0	0.002450	0	0
SSPO	23145	broad.mit.edu	37	7	149481149	149481149	+	RNA	SNP	C	C	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:149481149C>G	ENST00000378016.2	+	0	2631							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCCCCAGCTTGTGCC	0.657000													3	14					0	0	0.004672	0	0
PIGL	9487	broad.mit.edu	37	17	16203244	16203244	+	Silent	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:16203244C>T	ENST00000225609.5	+	3	395	c.378C>T	c.(376-378)caC>caT	p.H126H	PIGL_ENST00000581006.1_Silent_p.H126H|PIGL_ENST00000498772.2_Silent_p.H126H|PIGL_ENST00000395844.3_Silent_p.H126H	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	126					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		ACACAGAGCACGTGGCCAGAG	0.507000													20	106					0	0	0.001523	0	0
RYR2	6262	broad.mit.edu	37	1	237777666	237777666	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:237777666C>A	ENST00000366574.2	+	37	5555	c.5238C>A	c.(5236-5238)caC>caA	p.H1746Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H1744Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H1730Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1746	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			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)			ACAAAAAACACGGCCTTCCAG	0.517000													12	38					3.07112e-06	7.37642e-06	0.000978	1	0
GRM1	2911	broad.mit.edu	37	6	146480525	146480525	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:146480525G>T	ENST00000392299.2	+	3	1212	c.742G>T	c.(742-744)Gct>Tct	p.A248S	GRM1_ENST00000361719.2_Missense_Mutation_p.A248S|GRM1_ENST00000355289.4_Missense_Mutation_p.A248S|GRM1_ENST00000282753.1_Missense_Mutation_p.A248S|GRM1_ENST00000492807.2_Missense_Mutation_p.A248S|GRM1_ENST00000507907.1_Missense_Mutation_p.A248S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	248					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAAAGAGCTGGCTGCCCAGGA	0.502000													17	55					2.35188e-11	6.52266e-11	0.006122	1	0
PLEK	5341	broad.mit.edu	37	2	68613641	68613641	+	Silent	SNP	C	C	T	rs151222226		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:68613641C>T	ENST00000234313.7	+	5	659	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	160	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGGTAACTGCGTCATTGATT	0.532000													11	36					0	0	0.000978	0	0
TRIM5	85363	broad.mit.edu	37	11	5701005	5701005	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5701005C>A	ENST00000305836.5	-	2	705	c.403G>T	c.(403-405)Gcc>Tcc	p.A135S	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Missense_Mutation_p.A135S|TRIM5_ENST00000396847.3_Missense_Mutation_p.A135S|TRIM5_ENST00000396853.4_Missense_Mutation_p.A135S|TRIM5_ENST00000396855.3_Missense_Mutation_p.A135S|TRIM5_ENST00000380034.3_Missense_Mutation_p.A135S			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	135					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TACTCCCGGGCAACCTCCTCT	0.512000													11	53					6.40141e-05	0.000145161	0.000978	1	0
LUZP4	51213	broad.mit.edu	37	X	114540770	114540770	+	Splice_Site	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chrX:114540770G>T	ENST00000371920.3	+	4	350	c.342_splice	c.e4-1	p.E115_splice	LUZP4_ENST00000451986.2_Splice_Site_p.E33_splice	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	115						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCCTTTTCAGGAGAAGTGCAG	0.378000													6	32					0.00116845	0.00246814	0.001168	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812833	31812833	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr21:31812833C>A	ENST00000334067.3	+	1	237	c.188C>A	c.(187-189)aCa>aAa	p.T63K		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	63						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCTGCCAGACATCCTGCACT	0.512000													15	59					7.93312e-07	1.95413e-06	0.002450	1	0
PCDH15	65217	broad.mit.edu	37	10	55892736	55892736	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr10:55892736G>T	ENST00000373965.2	-	16	2231	c.1837C>A	c.(1837-1839)Ctt>Att	p.L613I	PCDH15_ENST00000395445.1_Missense_Mutation_p.L613I|PCDH15_ENST00000395432.2_Missense_Mutation_p.L569I|PCDH15_ENST00000361849.3_Missense_Mutation_p.L606I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.L606I|PCDH15_ENST00000373955.1_Missense_Mutation_p.L606I|PCDH15_ENST00000373957.3_Missense_Mutation_p.L584I|PCDH15_ENST00000409834.1_Missense_Mutation_p.L217I|PCDH15_ENST00000395438.1_Missense_Mutation_p.L606I|PCDH15_ENST00000414778.1_Missense_Mutation_p.L611I|PCDH15_ENST00000395430.1_Missense_Mutation_p.L606I|PCDH15_ENST00000320301.6_Missense_Mutation_p.L606I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L584I|PCDH15_ENST00000437009.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	606	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTGGTGGAAGCACTTCAATA	0.408000										HNSCC(58;0.16)			6	26					8.12818e-05	0.000182706	0.001984	1	0
OR8B3	390271	broad.mit.edu	37	11	124266426	124266426	+	Silent	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:124266426A>T	ENST00000354597.3	-	1	838	c.822T>A	c.(820-822)tcT>tcA	p.S274S		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTAGAAAACAGAAGAAACTT	0.403000													16	65					0	0	0.007413	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396420	22396420	+	Silent	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:22396420C>A	ENST00000263160.3	+	9	1598	c.1161C>A	c.(1159-1161)atC>atA	p.I387I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	387					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGAGAAAGATCATGAATTGTG	0.353000													24	85					1.85244e-09	4.89121e-09	0.003330	1	0
MMP8	4317	broad.mit.edu	37	11	102595499	102595499	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:102595499T>C	ENST00000236826.3	-	1	186	c.88A>G	c.(88-90)Aca>Gca	p.T30A		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	30					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACAGTTTTTGTATTTTTCTCT	0.363000													39	116					0	0	0.002522	0	0
OR52N1	79473	broad.mit.edu	37	11	5809561	5809561	+	Silent	SNP	A	A	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:5809561A>C	ENST00000317078.1	-	1	485	c.486T>G	c.(484-486)acT>acG	p.T162T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGTGAGGAAAGTGGAAGGGA	0.498000													10	33					0	0	0.008291	0	0
ROR1	4919	broad.mit.edu	37	1	64644143	64644143	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:64644143G>T	ENST00000371079.1	+	9	2794	c.2419G>T	c.(2419-2421)Ggc>Tgc	p.G807C	ROR1_ENST00000545203.1_Missense_Mutation_p.G258C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	807	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGGTTTCATTGGCCCGCCAAT	0.517000													15	38					4.14922e-12	1.16329e-11	0.004007	1	0
CDC6	990	broad.mit.edu	37	17	38447873	38447873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr17:38447873G>A	ENST00000209728.4	+	4	1084	c.613G>A	c.(613-615)Gga>Aga	p.G205R		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	205					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGGTGCTCCTGGAACTGGAAA	0.458000													23	122					0	0	0.002780	0	0
LOC645166	645166	broad.mit.edu	37	1	148932888	148932888	+	RNA	SNP	G	G	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr1:148932888G>T	ENST00000539543.1	+	0	144					NR_027355.1																						TGAGGTACAGGCTCAGTCTGC	0.637000													9	111					2.17888e-05	5.04479e-05	0.006214	1	0
PIK3R4	30849	broad.mit.edu	37	3	130403120	130403120	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:130403120G>A	ENST00000356763.3	-	16	4138	c.3581C>T	c.(3580-3582)cCt>cTt	p.P1194L	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1194					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGATACAGAGGGTGCATTGA	0.483000													8	57					0	0	0.003080	0	0
TBC1D32	221322	broad.mit.edu	37	6	121526220	121526220	+	Splice_Site	SNP	C	C	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr6:121526220C>T	ENST00000275159.6	-	22	2570		c.e22+1		TBC1D32_ENST00000398197.2_Intron|TBC1D32_ENST00000398212.2_Splice_Site					TBC1 domain family, member 32																		TAGCATTTTACCTTAGACCAA	0.239000													15	36					0	0	0.002450	0	0
STK17B	9262	broad.mit.edu	37	2	197021180	197021180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:197021180G>C	ENST00000263955.4	-	3	604	c.318C>G	c.(316-318)atC>atG	p.I106M	STK17B_ENST00000409228.1_Missense_Mutation_p.I106M	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	106	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATATCAAAATGATTTCACTTG	0.313000													6	11					0	0	0.001984	0	0
ABCC8	6833	broad.mit.edu	37	11	17426158	17426158	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:17426158A>T	ENST00000302539.4	-	28	3586	c.3461T>A	c.(3460-3462)cTg>cAg	p.L1154Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1153Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1153	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGACGGCCAGGGCTGAGAC	0.597000													8	12					0	0	0.003080	0	0
OR56A1	120796	broad.mit.edu	37	11	6048932	6048932	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:6048932C>A	ENST00000316650.5	-	1	39	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCTGAATCATGAGCTGAG	0.458000													31	86					8.16721e-17	2.39427e-16	0.002096	1	0
OR5AR1	219493	broad.mit.edu	37	11	56432020	56432020	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr11:56432020C>A	ENST00000302969.2	+	1	883	c.859C>A	c.(859-861)Ccc>Acc	p.P287T		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATGTTAAATCCCTTGATCTA	0.408000													10	38					2.17888e-05	5.04479e-05	0.006214	1	0
C2orf44	80304	broad.mit.edu	37	2	24253907	24253908	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:24253907_24253908delAA	ENST00000295148.4	-	4	2118_2119	c.2061_2062delTT	c.(2059-2064)ttctfs	p.FS687fs	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	687							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTGAGAAAAAGAGTCTC	0.475			T	ALK	NSCLC								9	105	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175584493	175584494	+	RNA	INS	-	-	T			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:175584493_175584494insT	ENST00000442996.1	+	0	217																											GTTGCTTCTGATTTTTTTTTTT	0.535											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	RNA	DEL	A	A	-	rs71401156		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													3	6	---	---	---	---					
SLC11A1	6556	broad.mit.edu	37	2	219257742	219257743	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:219257742_219257743insCT	ENST00000233202.6	+	12	1543_1544	c.1203_1204insCT	c.(1201-1206)gttcctfs	p.P402fs	SLC11A1_ENST00000539932.1_Frame_Shift_Ins_p.P284fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	402					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCCCGTGTCCTCCTCACCCG	0.634													10	42	---	---	---	---					
DIS3L2	129563	broad.mit.edu	37	2	233194619	233194619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr2:233194619delG	ENST00000325385.7	+	15	2112	c.1836delG	c.(1834-1836)ccfs	p.P613fs	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Frame_Shift_Del_p.P613fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	613							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCACCCCCCGCCCCAAACAA	0.652													11	41	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													4	2	---	---	---	---					
PCDHGA2	56113	broad.mit.edu	37	5	140719785	140719785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr5:140719785delC	ENST00000394576.2	+	1	1247	c.1247delC	c.(1246-1248)tcfs	p.S416fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTTTTCCTTTTACAAC	0.478													10	54	---	---	---	---					
TRBV10-1	28585	broad.mit.edu	37	7	142231787	142231787	+	RNA	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr7:142231787delG	ENST00000390364.3	-	0	197																											TTCCAAGTCTGGTGACACGCC	0.488													31	111	---	---	---	---					
FZD3	7976	broad.mit.edu	37	8	28413285	28413285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr8:28413285delG	ENST00000240093.3	+	7	2062	c.1584delG	c.(1582-1584)cafs	p.Q528fs	FZD3_ENST00000537916.1_Frame_Shift_Del_p.Q528fs	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	528					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGGTACTCCAGGAACCTGATT	0.418													22	80	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)atfs	p.N973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													11	1425	---	---	---	---					
CELP	1057	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs63239560		TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2																						AGGATGCCCCTGTGCCCCTCA	0.677													3	5	---	---	---	---					
MYBPC1	4604	broad.mit.edu	37	12	102040650	102040650	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:102040650delG	ENST00000549145.1	+	12	1139	c.1039delG	c.(1039-1041)agfs	p.E347fs	RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000360610.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000545503.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000541119.1_Frame_Shift_Del_p.E322fs|MYBPC1_ENST00000536007.1_Frame_Shift_Del_p.E315fs|MYBPC1_ENST00000553190.1_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000547509.1_Frame_Shift_Del_p.E320fs|MYBPC1_ENST00000452455.2_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000441232.1_Frame_Shift_Del_p.E334fs|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Frame_Shift_Del_p.E321fs|MYBPC1_ENST00000361685.2_Frame_Shift_Del_p.E359fs|MYBPC1_ENST00000361466.2_Frame_Shift_Del_p.E359fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Del_p.E334fs|MYBPC1_ENST00000551300.1_Frame_Shift_Del_p.E235fs|MYBPC1_ENST00000547405.1_Frame_Shift_Del_p.E308fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	334	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGTTCCACTGAGCTCTTCGT	0.413													35	52	---	---	---	---					
RILPL1	353116	broad.mit.edu	37	12	124008061	124008065	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr12:124008061_124008065delCTCCT	ENST00000376874.4	-	2	672_676	c.437_441delAGGAG	c.(436-441)gfs	p.EE146fs		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	146					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCTGGAACTCCTCCTCTGAGAAATT	0.585													10	98	---	---	---	---					
KLHL1	57626	broad.mit.edu	37	13	70681720	70681720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:70681720delG	ENST00000377844.4	-	1	871	c.112delC	c.(112-114)tgfs	p.L38fs	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	38					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTGTTGCAGGCAGCCTCCC	0.607													7	24	---	---	---	---					
ITGBL1	9358	broad.mit.edu	37	13	102359121	102359121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr13:102359121delC	ENST00000376180.3	+	9	1367	c.1148delC	c.(1147-1149)tcfs	p.S383fs	ITGBL1_ENST00000545560.2_Frame_Shift_Del_p.S242fs|ITGBL1_ENST00000376162.3_Frame_Shift_Del_p.S290fs	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	383	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACATGTTCCTGTGGTCGC	0.468													22	45	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30748614	30748614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7399-01A-11D-2012-08	TCGA-CR-7399-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a76ba15-f6e5-484f-8a52-9be8351ebdb7	56cff3ff-2ff4-407f-9eae-6b56d8f2f214	g.chr16:30748614delA	ENST00000262518.4	+	34	7638	c.7253delA	c.(7252-7254)ctfs	p.H2418fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.H2356fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.H2260fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2418					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATATCCGCCCATCAAACTCGC	0.647													10	34	---	---	---	---