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
LZTR1	8216	broad.mit.edu	37	22	21349206	21349206	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:21349206G>A	ENST00000215739.8	+	16	2192	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	LZTR1_ENST00000389355.3_Silent_p.V592V|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	611					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAACCAGGTGATCATGATGA	0.617000													51	108					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39265184	39265184	+	Missense_Mutation	SNP	C	C	A	rs151214132		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:39265184C>A	ENST00000280481.7	+	1	3919	c.3703C>A	c.(3703-3705)Cat>Aat	p.H1235N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1235					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCCCCACTCATGGTCACAT	0.428000													58	258					2.12129e-23	2.48898e-23	0.014410	1	0
C14orf37	145407	broad.mit.edu	37	14	58471868	58471868	+	Silent	SNP	T	T	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:58471868T>G	ENST00000267485.7	-	7	2348	c.2154A>C	c.(2152-2154)gtA>gtC	p.V718V		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	718						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCCCAACCCCTACAGGCACCA	0.488000													47	50					0	0	0.014410	0	0
PGBD5	79605	broad.mit.edu	37	1	230468601	230468601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:230468601G>A	ENST00000321327.2	-	7	1351	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.P306L|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	352						integral to membrane		p.P451L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGCTGCACCGGGGAGTAGGC	0.627000													33	63					0	0	0.015359	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79588079	79588079	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:79588079C>A	ENST00000263849.4	+	2	176	c.74C>A	c.(73-75)aCa>aAa	p.T25K	ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	25																	TGTGGAAGAACATTCTTTCCA	0.323000													35	147					5.44703e-19	6.26586e-19	0.036044	1	0
PHC3	80012	broad.mit.edu	37	3	169840414	169840414	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169840414C>G	ENST00000494943.1	-	9	1939	c.1871G>C	c.(1870-1872)aGa>aCa	p.R624T	PHC3_ENST00000467570.1_Missense_Mutation_p.R583T|PHC3_ENST00000495893.1_Missense_Mutation_p.R636T			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	624	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCTTCTCCTCTCCCCACTGT	0.398000													10	202					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56471961	56471961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:56471961G>A	ENST00000370754.5	-	39	7365	c.7366C>T	c.(7366-7368)Cag>Tag	p.Q2456*	DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.Q2278*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q2278*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q2278*|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1952*			Q03001	DYST_HUMAN	dystonin	2278					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	p.Q2278K(1)		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)			CCCAGAAACTGGTCTTGAAAT	0.383000													12	41					0	0	0.010729	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280093	18280093	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:18280093A>T	ENST00000377369.2	+	8	1556	c.1283A>T	c.(1282-1284)cAt>cTt	p.H428L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.H428L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H428L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H294L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	428					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTGGTTTACATAAGCAGGAA	0.373000													11	42					0	0	0.010729	0	0
RTKN2	219790	broad.mit.edu	37	10	64022543	64022543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:64022543C>T	ENST00000373789.3	-	2	194	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q|RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					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)					TTCTCGCATTCGAATTTCTAA	0.333000													7	26					0	0	0.029380	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750656	76750656	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:76750656G>A	ENST00000533140.1	+	2	199	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	B3GNT6_ENST00000421061.1_Missense_Mutation_p.V21M|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V21M			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	21					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCTGGTGGGCGTGAGTTTCTT	0.657000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	37					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73849229	73849229	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:73849229A>G	ENST00000523207.1	+	3	2227	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	547					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)			ATACAATGAAATCACCAAGAC	0.488000													23	88					0	0	0.021523	0	0
UGGT2	55757	broad.mit.edu	37	13	96675306	96675306	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:96675306T>A	ENST00000376747.3	-	4	543	c.473A>T	c.(472-474)aAa>aTa	p.K158I	UGGT2_ENST00000376712.4_Missense_Mutation_p.K158I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K158I|UGGT2_ENST00000376714.3_Missense_Mutation_p.K158I	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	158					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGAAGCAGCTTTCTTCAGCAG	0.323000													22	56					0	0	0.014323	0	0
PGBD2	267002	broad.mit.edu	37	1	249211729	249211729	+	Missense_Mutation	SNP	C	C	G	rs75935520		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:249211729C>G	ENST00000355360.4	+	3	463	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	PGBD2_ENST00000329291.5_Missense_Mutation_p.L316V|PGBD2_ENST00000539153.1_Missense_Mutation_p.L313V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	316										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAGGGCACACTGTTTACCAA	0.512000													82	33					0	0	0.014410	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438000													13	36					0	0	0.020292	0	0
CFH	3075	broad.mit.edu	37	1	196642255	196642255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:196642255G>T	ENST00000367429.4	+	2	446	c.206G>T	c.(205-207)gGa>gTa	p.G69V	CFH_ENST00000439155.2_Missense_Mutation_p.G69V|CFH_ENST00000359637.2_Missense_Mutation_p.G69V|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	69	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCAGGAAGGGAGAATGGGTT	0.363000													69	44					2.72615e-36	3.28632e-36	0.014410	1	0
BAZ2B	29994	broad.mit.edu	37	2	160204131	160204131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:160204131C>T	ENST00000392783.2	-	31	5815	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1738K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1740K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1674K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGTTTTCTTCATTTTCATTC	0.343000													14	33					0	0	0.020292	0	0
DNAH5	1767	broad.mit.edu	37	5	13830755	13830755	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:13830755G>A	ENST00000265104.4	-	36	6116	c.6012C>T	c.(6010-6012)ttC>ttT	p.F2004F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2004	AAA 1 (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)					CTGAACAATTGAAAACCACGA	0.473000									Kartagener syndrome				19	104					0	0	0.008871	0	0
LAMA1	284217	broad.mit.edu	37	18	6943269	6943269	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:6943269C>A	ENST00000389658.3	-	62	9070	c.8977G>T	c.(8977-8979)Gtt>Ttt	p.V2993F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2993	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCCGTCAACAATCAGAGTG	0.488000													99	30					1.54295e-31	1.84734e-31	0.014410	1	0
LMBRD2	92255	broad.mit.edu	37	5	36111350	36111350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36111350G>A	ENST00000296603.4	-	14	2113	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	551						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAACAACGGGTTCCCAAA	0.313000													16	36					0	0	0.028581	0	0
TBR1	10716	broad.mit.edu	37	2	162274717	162274717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:162274717C>T	ENST00000389554.3	+	3	1170	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCTAGGAAATCGGGTCTATAT	0.478000													19	28					0	0	0.038395	0	0
PRG4	10216	broad.mit.edu	37	1	186275519	186275519	+	Missense_Mutation	SNP	G	G	C	rs28698702		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:186275519G>C	ENST00000445192.2	+	7	713	c.668G>C	c.(667-669)gGa>gCa	p.G223A	PRG4_ENST00000367484.3_Missense_Mutation_p.G182A|PRG4_ENST00000367485.4_Missense_Mutation_p.G130A|PRG4_ENST00000367483.4_Missense_Mutation_p.G182A|PRG4_ENST00000367486.3_Missense_Mutation_p.G180A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	223					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GATGAAGCTGGAAGTGGATTG	0.393000													57	206					0	0	0.014410	0	0
PAX3	5077	broad.mit.edu	37	2	223161823	223161823	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:223161823G>T	ENST00000350526.4	-	2	331	c.195C>A	c.(193-195)caC>caA	p.H65Q	PAX3_ENST00000409551.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392070.2_Missense_Mutation_p.H65Q|PAX3_ENST00000409828.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392069.2_Missense_Mutation_p.H65Q|PAX3_ENST00000344493.4_Missense_Mutation_p.H65Q|PAX3_ENST00000258387.5_Missense_Mutation_p.H65Q|PAX3_ENST00000336840.6_Missense_Mutation_p.H65Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	65	Paired.		Missing (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H65H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGATGCCGTGGTGGGCCA	0.657000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						15	7					4.7546e-09	5.07158e-09	0.028581	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063143	48063143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:48063143G>T	ENST00000316364.5	+	19	2822	c.2383G>T	c.(2383-2385)Gcc>Tcc	p.A795S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.A795S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A739S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A733S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A752S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A720S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A776S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A733S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	795					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCAGAAAAGGCCCATGGCCA	0.542000													24	53					5.45024e-15	6.10982e-15	0.018920	1	0
C12orf68	387856	broad.mit.edu	37	12	48578417	48578417	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:48578417A>G	ENST00000316554.3	+	1	1052	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	171						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTTGGGGGGGACGGGCCACTT	0.657000													2	5					0	0	0.004672	0	0
IRF4	3662	broad.mit.edu	37	6	407576	407576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:407576G>A	ENST00000380956.4	+	9	1460	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	445					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGATCTATCCGCCATTCCTCT	0.373000			T	IGH@	MM								21	49					0	0	0.012319	0	0
CD247	919	broad.mit.edu	37	1	167400951	167400951	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:167400951G>A	ENST00000392122.3	-	8	603	c.459C>T	c.(457-459)gaC>gaT	p.D153D	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Silent_p.D154D	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	154	ITAM 3.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TGTGAAGGGCGTCGTAGGTGT	0.562000													8	211					0	0	0.004482	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174742	150174742	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:150174742G>T	ENST00000307271.3	+	5	2446	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	624						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			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)		TCAATGATCTGAGAAAAGAAA	0.443000													25	103					2.44723e-14	2.70888e-14	0.024334	1	0
TTC21A	199223	broad.mit.edu	37	3	39170771	39170771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:39170771G>A	ENST00000301819.6	+	15	2306	c.2129G>A	c.(2128-2130)aGa>aAa	p.R710K	TTC21A_ENST00000431162.2_Missense_Mutation_p.R709K|TTC21A_ENST00000440121.1_Missense_Mutation_p.R661K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	709							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGACCCTCAGAGACAGGCGC	0.522000													67	52					0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21730399	21730399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:21730399G>A	ENST00000328843.6	+	36	5993	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1981K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1988	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTCTTGGGGAAGCTATCAC	0.363000									Kartagener syndrome				48	194					0	0	0.014410	0	0
GRAMD4	23151	broad.mit.edu	37	22	47054120	47054120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:47054120C>T	ENST00000406902.1	+	4	533	c.320C>T	c.(319-321)gCg>gTg	p.A107V	GRAMD4_ENST00000361034.3_Missense_Mutation_p.A107V			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	107					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAAACCAACGCGGAGATGCTG	0.657000													10	42					0	0	0.008291	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:169540507G>A	ENST00000340806.6	+	1	798	c.798G>A	c.(796-798)ggG>ggA	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612000													7	114					0	0	0.029380	0	0
RPL13A	23521	broad.mit.edu	37	19	49993179	49993179	+	Splice_Site	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:49993179G>A	ENST00000391857.4	+	2	164	c.88_splice	c.e2+1	p.G30_splice	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGTACTGCTGGGTAAGTCGCT	0.592000													38	100					0	0	0.027894	0	0
TMTC2	160335	broad.mit.edu	37	12	83324299	83324299	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:83324299A>G	ENST00000549919.1	+	5	3360	c.1555A>G	c.(1555-1557)Aac>Gac	p.N519D	TMTC2_ENST00000321196.3_Missense_Mutation_p.N525D|TMTC2_ENST00000548305.1_Missense_Mutation_p.N525D			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	525						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTACCGCAGCAACATGGCTGA	0.433000													9	43					0	0	0.006214	0	0
FAM173B	134145	broad.mit.edu	37	5	10239377	10239377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:10239377C>T	ENST00000511437.1	-	2	120	c.108G>A	c.(106-108)tgG>tgA	p.W36*	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.W36*	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	36						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTAAGAACCCCCAGTTGCTTT	0.478000													60	109					0	0	0.014410	0	0
LIPI	149998	broad.mit.edu	37	21	15538694	15538694	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr21:15538694G>C	ENST00000344577.2	-	5	810	c.785C>G	c.(784-786)tCa>tGa	p.S262*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.S241*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	241					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGAAAATTGATTTAGGACA	0.358000													21	57					0	0	0.018920	0	0
RCE1	9986	broad.mit.edu	37	11	66612403	66612403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:66612403C>T	ENST00000309657.3	+	5	559	c.515C>T	c.(514-516)cCg>cTg	p.P172L	RCE1_ENST00000525356.1_Missense_Mutation_p.P49L|RCE1_ENST00000524506.1_Missense_Mutation_p.P172L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	172					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGATCGCCCCGCTGACAGAG	0.632000													21	10					0	0	0.008871	0	0
ELN	2006	broad.mit.edu	37	7	73477973	73477973	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:73477973C>T	ENST00000252034.7	+	29	2340	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	ELN_ENST00000380576.5_Silent_p.L628L|ELN_ENST00000380584.4_Silent_p.L599L|ELN_ENST00000380553.4_Silent_p.L511L|ELN_ENST00000357036.5_Silent_p.L652L|ELN_ENST00000429192.1_Silent_p.L633L|ELN_ENST00000380575.4_Silent_p.L618L|ELN_ENST00000458204.1_Silent_p.L637L|ELN_ENST00000380562.4_Silent_p.L653L|ELN_ENST00000320399.6_Silent_p.L680L|ELN_ENST00000414324.1_Silent_p.L623L|ELN_ENST00000320492.7_Silent_p.L566L|ELN_ENST00000358929.4_Silent_p.L715L|ELN_ENST00000445912.1_Silent_p.L647L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	709	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGCTGGGCTCGGAGGACTCG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						58	86					0	0	0.014410	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176624	140176624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140176624C>T	ENST00000526136.1	+	1	2075	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	PCDHA2_ENST00000520672.2_Missense_Mutation_p.T692M|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T692M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1												p.T692M(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGCTACGCTGGTGGAT	0.647000													41	97					0	0	0.036044	0	0
OR13A1	79290	broad.mit.edu	37	10	45799805	45799805	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:45799805A>G	ENST00000553795.1	-	4	374	c.66T>C	c.(64-66)agT>agC	p.S22S	OR13A1_ENST00000536058.1_Silent_p.S22S|OR13A1_ENST00000374401.2_Silent_p.S22S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGTCTGGTTACTCATCATCC	0.502000													23	60					0	0	0.021523	0	0
CECR2	27443	broad.mit.edu	37	22	18022469	18022469	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:18022469G>T	ENST00000262608.8	+	15	2574	c.2574G>T	c.(2572-2574)atG>atT	p.M858I	CECR2_ENST00000400585.2_Missense_Mutation_p.M716I|CECR2_ENST00000400573.4_Missense_Mutation_p.M857I	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	899					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGACTCCATGATGGACAGCC	0.637000													26	61					2.44723e-14	2.70888e-14	0.024334	1	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847145	32847145	+	RNA	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:32847145G>A	ENST00000420261.1	-	0	480																											TGTCTAGCTAGTTTGATATTG	0.383000													4	8					0	0	0.009096	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			19	14					0	0	0.010504	0	0
CDH23	64072	broad.mit.edu	37	10	73545397	73545397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:73545397G>A	ENST00000224721.6	+	43	5742	c.5737G>A	c.(5737-5739)Gtc>Atc	p.V1913I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1908	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACAGGGATCGTCACTGTGAA	0.582000													3	4					0	0	0.004672	0	0
SYT5	6861	broad.mit.edu	37	19	55687172	55687172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:55687172G>A	ENST00000354308.3	-	5	814	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SYT5_ENST00000590851.1_Missense_Mutation_p.R146W|SYT5_ENST00000537500.1_Missense_Mutation_p.R149W|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	149	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTAGACCCGCACATAGGGG	0.622000													27	82					0	0	0.030593	0	0
EPHX4	253152	broad.mit.edu	37	1	92495663	92495663	+	Silent	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:92495663C>G	ENST00000370383.4	+	1	125	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	9						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATTGCCTGCCCCGCCTGATGC	0.701000													9	7					0	0	0.010729	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927243	43927243	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:43927243C>T	ENST00000282406.4	+	8	1256	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	382						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGATAGTTCCTCGGATGAAC	0.403000													51	63					0	0	0.014410	0	0
FDFT1	2222	broad.mit.edu	37	8	11660408	11660408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:11660408G>A	ENST00000220584.4	+	1	289	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	FDFT1_ENST00000525900.1_Missense_Mutation_p.G23S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.G23S|FDFT1_ENST00000538689.1_Intron	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	23					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGGATCGGGGGCAAGCGGAA	0.692000													4	15					0	0	0.009096	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620503	81620503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:81620503G>C	ENST00000356860.3	-	21	2132	c.1794C>G	c.(1792-1794)taC>taG	p.Y598*	CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Y617*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	617						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAATTACCTGTAATCTGTGC	0.308000													17	32					0	0	0.033300	0	0
LETM2	137994	broad.mit.edu	37	8	38264944	38264944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:38264944C>A	ENST00000379957.4	+	10	1503	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	LETM2_ENST00000524874.1_Nonsense_Mutation_p.S411*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.S245*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.S364*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S412*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	459						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)			ACACCTATTTCATTACCTAAA	0.378000													30	89					3.1745e-13	3.47026e-13	0.037714	1	0
TTN	7273	broad.mit.edu	37	2	179517412	179517412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:179517412G>A	ENST00000589042.1	-	201	39235	c.39011C>T	c.(39010-39012)cCt>cTt	p.P13004L	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11346	Ig-like 86.						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)			CTTTTTAGGAGGAGCCGAGGG	0.388000													92	140					0	0	0.014410	0	0
ATF7	11016	broad.mit.edu	37	12	53918430	53918430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:53918430C>A	ENST00000420353.2	-	10	1192	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	ATF7_ENST00000548446.2_Missense_Mutation_p.R359L|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R348L|ATF7_ENST00000456903.4_Missense_Mutation_p.R348L|ATF7_ENST00000415113.1_Missense_Mutation_p.R327L|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Missense_Mutation_p.R359L	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	359	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TTGGCGGCAGCGGGAGGCTGC	0.607000													33	45					3.03874e-20	3.51854e-20	0.015359	1	0
FCF1	51077	broad.mit.edu	37	14	75182665	75182665	+	Missense_Mutation	SNP	C	C	G	rs114572906	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:75182665C>G	ENST00000341162.4	+	4	209	c.155C>G	c.(154-156)cCt>cGt	p.P52R	FCF1_ENST00000553615.1_Missense_Mutation_p.P37R|FCF1_ENST00000534938.2_Missense_Mutation_p.P40R	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	52					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CCCCAACACCCTTCCTGCTTA	0.373000													12	178					0	0	0.013537	0	0
CTNND2	1501	broad.mit.edu	37	5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	rs148824970	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617000													15	59					0	0	0.033300	0	0
AVPR1B	553	broad.mit.edu	37	1	206224960	206224960	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:206224960C>T	ENST00000367126.4	+	1	985	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	174					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATTTTTTCCCTGCGGGAGGT	0.647000													14	107					0	0	0.016723	0	0
CDK11B	984	broad.mit.edu	37	1	1586909	1586909	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:1586909G>T	ENST00000407249.3	-	2	140	c.141C>A	c.(139-141)tcC>tcA	p.S47S	CDK11B_ENST00000317673.7_Silent_p.S47S|CDK11B_ENST00000341832.6_Silent_p.S13S|CDK11B_ENST00000340677.5_Silent_p.S47S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	47					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						cctcctcaagggaatcccgct	0.408000													18	14					1.40151e-16	1.59139e-16	0.010504	1	0
WEE2	494551	broad.mit.edu	37	7	141418927	141418927	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141418927A>T	ENST00000397541.2	+	4	1047	c.641A>T	c.(640-642)gAg>gTg	p.E214V	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	214	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAATTCTTGGAGGTTGAAAAA	0.353000													60	52					0	0	0.014410	0	0
LARP4B	23185	broad.mit.edu	37	10	931622	931622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:931622G>A	ENST00000316157.3	-	1	80	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	14							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTCTGCGTCTGCGGTTCAGCC	0.512000													26	45					0	0	0.012213	0	0
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552000													42	127					0	0	0.036044	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149358	73149358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:73149358G>A	ENST00000286657.4	-	22	3149	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1038	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTGGTATGGAGCAGTATCG	0.418000													7	116					0	0	0.038147	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951598	130951598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:130951598C>T	ENST00000312988.7	-	4	917	c.817G>A	c.(817-819)Gcc>Acc	p.A273T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	273					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ATGACTGGGGCGTAGGTGGCC	0.597000													32	199					0	0	0.033182	0	0
DICER1	23405	broad.mit.edu	37	14	95584087	95584087	+	Missense_Mutation	SNP	T	T	C	rs141163928		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:95584087T>C	ENST00000526495.1	-	11	1672	c.1381A>G	c.(1381-1383)Ata>Gta	p.I461V	DICER1_ENST00000541352.1_Missense_Mutation_p.I461V|DICER1_ENST00000393063.1_Missense_Mutation_p.I461V|DICER1_ENST00000343455.3_Missense_Mutation_p.I461V|DICER1_ENST00000527414.1_Missense_Mutation_p.I461V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	461	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTTCCTTTATCAATCTAAGA	0.348000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	43					0	0	0.038147	0	0
BPIFB4	149954	broad.mit.edu	37	20	31677343	31677343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:31677343G>C	ENST00000375483.3	+	7	1030	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	344						cytoplasm|extracellular region	lipid binding										TCTTGTCAATGACCAGCTGGG	0.582000													54	66					0	0	0.014410	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049095	36049095	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:36049095A>G	ENST00000282507.3	-	4	840	c.739T>C	c.(739-741)Tgg>Cgg	p.W247R	UGT3A2_ENST00000513300.1_Missense_Mutation_p.W213R|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	247						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAATGAACCACAACTCTGCT	0.428000													66	77					0	0	0.014410	0	0
ABCG8	64241	broad.mit.edu	37	2	44078781	44078781	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:44078781C>G	ENST00000272286.2	+	4	471	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	127	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGGCAAGATCAAGTCAGGCC	0.602000													42	48					0	0	0.030466	0	0
FLG	2312	broad.mit.edu	37	1	152281214	152281214	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:152281214G>T	ENST00000368799.1	-	3	6183	c.6148C>A	c.(6148-6150)Cat>Aat	p.H2050N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2050	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTGAATGTCCCTCACTG	0.562000									Ichthyosis				30	863					1.08312e-15	1.22198e-15	0.041601	1	0
KMT2D	8085	broad.mit.edu	37	12	49435964	49435964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49435964C>T	ENST00000301067.7	-	28	6016	c.6017G>A	c.(6016-6018)tGg>tAg	p.W2006*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCCTTCTCCCAGCGCTGAAG	0.582000													11	3					0	0	0.008291	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416215	1416215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:1416215G>T	ENST00000270349.9	-	7	1156	c.1029C>A	c.(1027-1029)taC>taA	p.Y343*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.Y343*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	343					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGCTCACCTGTAGCAGTTGT	0.587000													14	57					1.05317e-09	1.14419e-09	0.020292	1	0
IL2	3558	broad.mit.edu	37	4	123377563	123377563	+	Silent	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:123377563T>C	ENST00000226730.4	-	1	317	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	11					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		CAAGACTTAGTGCAATGCAAG	0.413000			T	TNFRSF17	intestinal T-cell lymphoma								39	22					0	0	0.033182	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072831	15072831	+	Silent	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15072831C>A	ENST00000598504.1	-	8	2277	c.918G>T	c.(916-918)ctG>ctT	p.L306L	SLC1A6_ENST00000430939.2_Silent_p.L242L|SLC1A6_ENST00000600144.1_Silent_p.L306L|SLC1A6_ENST00000544886.2_Silent_p.L306L|SLC1A6_ENST00000221742.3_Silent_p.L306L	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	306					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGATGCCCACCAGCCTCATAA	0.572000													4	92					0.00909568	0.00920023	0.009096	1	0
SBK2	646643	broad.mit.edu	37	19	56042631	56042631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:56042631G>C	ENST00000413299.1	-	3	372	c.335C>G	c.(334-336)tCg>tGg	p.S112W	SBK2_ENST00000344158.3_Missense_Mutation_p.S112W	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	112	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGCGCCCAGCGAGAGCCCCAC	0.667000													5	24					0	0	0.014758	0	0
ZNF484	83744	broad.mit.edu	37	9	95609196	95609196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:95609196C>T	ENST00000395505.2	-	3	1857	c.1765G>A	c.(1765-1767)Gta>Ata	p.V589I	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.V625I|ZNF484_ENST00000395506.3_Missense_Mutation_p.V627I|ZNF484_ENST00000332591.6_Missense_Mutation_p.V589I	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGCTGATGTACGTGGAGCTGT	0.393000													25	41					0	0	0.016522	0	0
GLRA2	2742	broad.mit.edu	37	X	14748410	14748410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:14748410G>A	ENST00000218075.4	+	9	1692	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	GLRA2_ENST00000443437.2_Missense_Mutation_p.A299T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A388T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	388					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGGAACAGCTGTCAAGGC	0.473000													7	172					0	0	0.029380	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431883	140431883	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140431883G>T	ENST00000306549.3	+	1	905	c.828G>T	c.(826-828)gcG>gcT	p.A276A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACAAAGCGATAACTTACT	0.507000													7	31					0.00198382	0.00202995	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179463494	179463494	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:179463494C>T	ENST00000589042.1	-	291	57167	c.56943G>A	c.(56941-56943)gcG>gcA	p.A18981A	TTN_ENST00000342992.6_Silent_p.A16413A|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.A10041A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.A9916A|TTN_ENST00000591111.1_Silent_p.A17340A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A10108A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17340	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(1)		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)			CTCTAGCAGTCGCTGGGTCTG	0.418000													56	162					0	0	0.014410	0	0
GPC5	2262	broad.mit.edu	37	13	92380812	92380812	+	Silent	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr13:92380812A>T	ENST00000377067.3	+	4	1419	c.1047A>T	c.(1045-1047)gtA>gtT	p.V349V	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	349						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCGCCCTGTAAGAACACCCA	0.423000													14	126					0	0	0.016723	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532547	71532547	+	Silent	SNP	G	G	A	rs61752951	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:71532547G>A	ENST00000265382.3	+	9	1160	c.855G>A	c.(853-855)gaG>gaA	p.E285E	PIP5K1B_ENST00000541509.1_Silent_p.E285E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	285	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGAAAGAGGAGGAGACCCCAC	0.463000													10	215					0	0	0.006214	0	0
WASH4P	374677	broad.mit.edu	37	16	67048	67048	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:67048G>C	ENST00000326592.9	-	5	1246	c.588C>G	c.(586-588)taC>taG	p.Y196*																								CATACTTCTTGTACCTACAGA	0.577000													4	28					0	0	0.014758	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134473675	134473675	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:134473675G>C	ENST00000372195.1	-	13	2260	c.2017C>G	c.(2017-2019)Ctg>Gtg	p.L673V	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L656V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L674V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	656					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCCGACTCCAGAGCATCTGGT	0.582000													10	16					0	0	0.006214	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423000													69	71					0	0	0.014410	0	0
SERPINC1	462	broad.mit.edu	37	1	173881055	173881055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:173881055G>T	ENST00000367698.3	-	3	624	c.506C>A	c.(505-507)tCc>tAc	p.S169Y		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	169					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TAACTTGGAGGATTTGTTGGC	0.423000													18	186					7.07596e-05	7.36905e-05	0.038395	1	0
NOS2	4843	broad.mit.edu	37	17	26114800	26114800	+	Missense_Mutation	SNP	C	C	T	rs148763708	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:26114800C>T	ENST00000313735.6	-	5	604	c.371G>A	c.(370-372)aGt>aAt	p.S124N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	124					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCTGGTCAAACTTTTGGGAGT	0.498000													6	164					0	0	0.021553	0	0
OSR1	130497	broad.mit.edu	37	2	19552911	19552911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:19552911C>T	ENST00000536433.1	-	1	3766	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	OSR1_ENST00000272223.2_Missense_Mutation_p.R219Q			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	219					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGTGGTCTCGCAGGTGGTC	0.597000													48	65					0	0	0.014410	0	0
DKK3	27122	broad.mit.edu	37	11	12030045	12030045	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:12030045A>T	ENST00000396505.2	-	2	323	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	DKK3_ENST00000326932.4_Missense_Mutation_p.S29T|DKK3_ENST00000525493.1_Missense_Mutation_p.S29T|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000450094.2_Missense_Mutation_p.S29T	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	29	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACTGGAGCCGAGGTCGCCGTC	0.716000													3	13					0	0	0.009096	0	0
MAGI1	9223	broad.mit.edu	37	3	65376930	65376930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:65376930G>A	ENST00000330909.8	-	14	2302	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	MAGI1_ENST00000497477.2_Missense_Mutation_p.P768L|MAGI1_ENST00000402939.2_Missense_Mutation_p.P768L|MAGI1_ENST00000483466.1_Missense_Mutation_p.P768L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	768					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGGAACTCGGGGAGCACCTG	0.547000													54	25					0	0	0.014410	0	0
SPAM1	6677	broad.mit.edu	37	7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:123593871G>A	ENST00000340011.5	+	3	604	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T|SPAM1_ENST00000439500.1_Missense_Mutation_p.A83T|SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	83					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CCGAATAAACGCCACCGGGCA	0.443000													26	33					0	0	0.018920	0	0
HHIP	64399	broad.mit.edu	37	4	145581029	145581029	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:145581029C>T	ENST00000434550.2	+	4	1374	c.870C>T	c.(868-870)taC>taT	p.Y290Y	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000296575.3_Intron			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	155						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCTGGCTACGTTAATTTTA	0.313000													5	10					0	0	0.014758	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235551	33235551	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:33235551C>T	ENST00000401073.2	+	6	841	c.771C>T	c.(769-771)ccC>ccT	p.P257P	KIAA1522_ENST00000373481.3_Silent_p.P209P|KIAA1522_ENST00000373480.1_Silent_p.P198P|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	198										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCATCCCCACAGTGGACG	0.721000													13	14					0	0	0.013537	0	0
KCNK13	56659	broad.mit.edu	37	14	90650616	90650616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:90650616C>T	ENST00000282146.4	+	2	937	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	166						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCGGCAGCTCCGGAGACGAGG	0.612000													5	76					0	0	0.021553	0	0
KCNG2	26251	broad.mit.edu	37	18	77659522	77659522	+	Silent	SNP	C	C	T	rs3744887		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:77659522C>T	ENST00000316249.3	+	2	1107	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	369					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCATGACCACCGTGGGCTACG	0.706000													25	15					0	0	0.024334	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213555	108213555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:108213555C>T	ENST00000249356.3	+	3	976	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	144					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	p.R144C(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTCCAGACACGCCAGGATGG	0.348000													21	62					0	0	0.010504	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221350	56221350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56221350G>A	ENST00000357606.3	-	3	1382	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	DNAJC14_ENST00000317287.5_Missense_Mutation_p.L365F|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L365F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	365					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGAGAAGAGCCAGGTAGCC	0.567000													22	70					0	0	0.010504	0	0
COPB1	1315	broad.mit.edu	37	11	14504607	14504607	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:14504607C>G	ENST00000249923.3	-	8	1228	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E310Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	310					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCAGGATGCTCTTTTAATTCT	0.333000													27	5					0	0	0.034045	0	0
FNDC9	408263	broad.mit.edu	37	5	156770492	156770492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:156770492G>T	ENST00000312349.4	-	2	240	c.53C>A	c.(52-54)tCg>tAg	p.S18*	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	18	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCCGAGGACGACCAGGAGAT	0.498000													16	42					3.57192e-18	4.0822e-18	0.038395	1	0
TICAM1	148022	broad.mit.edu	37	19	4816803	4816803	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:4816803C>A	ENST00000248244.5	-	2	1816	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	529	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCTGTGGGGCTTGAAGGTGT	0.657000													13	23					7.93312e-07	8.36065e-07	0.020292	1	0
SHOX2	6474	broad.mit.edu	37	3	157820514	157820514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:157820514G>A	ENST00000490689.2	-	2	1654	c.121C>T	c.(121-123)Cga>Tga	p.R41*	SHOX2_ENST00000483851.2_Nonsense_Mutation_p.R170*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.R170*|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.R194*			O60902	SHOX2_HUMAN	short stature homeobox 2	170					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGTTCCTCTCGCATGAAGGCG	0.597000													23	246					0	0	0.016522	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784508	15784508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:15784508C>T	ENST00000550308.1	+	2	549	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57W	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCCCCCAAAACGGAACTGGTT	0.592000													6	123					0	0	0.021553	0	0
ATP9A	10079	broad.mit.edu	37	20	50234077	50234077	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:50234077G>A	ENST00000338821.5	-	22	2631	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	ATP9A_ENST00000402822.1_Silent_p.D668D|ATP9A_ENST00000311637.5_Silent_p.D653D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	789					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGCTGACGTCATTGCCTC	0.498000													6	11					0	0	0.038147	0	0
FEZF1	389549	broad.mit.edu	37	7	121943848	121943848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:121943848C>G	ENST00000442488.2	-	1	711	c.644G>C	c.(643-645)gGa>gCa	p.G215A	FEZF1_ENST00000331178.4_Missense_Mutation_p.G215A|FEZF1_ENST00000427185.2_Missense_Mutation_p.G165A|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	215					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAAGCTACTCCAGAAGGGTA	0.507000													23	55					0	0	0.016522	0	0
TAOK2	9344	broad.mit.edu	37	16	29993064	29993064	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:29993064G>T	ENST00000308893.4	+	9	1781	c.738G>T	c.(736-738)caG>caT	p.Q246H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q246H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q73H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q246H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	246	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCGTGCTCCAGTCAGGACACT	0.542000													14	59					7.93312e-07	8.36065e-07	0.020292	1	0
PLCB1	23236	broad.mit.edu	37	20	8745992	8745992	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:8745992G>T	ENST00000378641.3	+	26	3392	c.2917G>T	c.(2917-2919)Gac>Tac	p.D973Y	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.D973Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D973Y	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	973					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						CGCCAAAAAGGACAGTAAGAA	0.328000													31	27					7.63505e-26	9.01858e-26	0.012213	1	0
CCT6A	908	broad.mit.edu	37	7	56120139	56120139	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56120139C>T	ENST00000275603.4	+	2	381	c.162C>T	c.(160-162)atC>atT	p.I54I	CCT6A_ENST00000540286.1_Silent_p.I23I|CCT6A_ENST00000335503.3_Silent_p.I54I	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	54					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGAGACATCAAACTTACTA	0.423000													48	88					0	0	0.014410	0	0
F13A1	2162	broad.mit.edu	37	6	6266932	6266932	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:6266932G>T	ENST00000264870.3	-	4	695	c.430C>A	c.(430-432)Cgg>Agg	p.R144R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512000													20	43					3.99206e-14	4.39126e-14	0.043863	1	0
ABCA5	23461	broad.mit.edu	37	17	67302927	67302927	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:67302927C>T	ENST00000392676.3	-	6	791	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ABCA5_ENST00000588877.1_Missense_Mutation_p.E243K|ABCA5_ENST00000392677.2_Missense_Mutation_p.E243K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	243					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTTCTTTTTCTGCTACGATA	0.254000													13	32					0	0	0.013537	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849445	171849445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:171849445C>T	ENST00000311601.5	-	2	301	c.131G>A	c.(130-132)cGc>cAc	p.R44H	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R44H	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	44	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGTAGCGCCGGTAAAT	0.517000													6	11					0	0	0.021553	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672830	113672830	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:113672830C>T	ENST00000330212.3	+	3	744	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	ZDHHC23_ENST00000498275.1_Silent_p.L143L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	149						integral to membrane	acyltransferase activity|zinc ion binding	p.L149V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACTGTTCTCTCTGGGCTACAT	0.522000													34	96					0	0	0.045705	0	0
RASGRP2	10235	broad.mit.edu	37	11	64510284	64510284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:64510284C>T	ENST00000377494.1	-	1	977	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	RASGRP2_ENST00000377486.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000377487.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394429.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377489.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394428.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377497.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394430.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G19R			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	19	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGATGCACCCGCGGAGCAGC	0.731000													3	9					0	0	0.009096	0	0
ASB9	140462	broad.mit.edu	37	X	15270437	15270437	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chrX:15270437G>A	ENST00000546332.1	-	5	855	c.372C>T	c.(370-372)caC>caT	p.H124H	ASB9_ENST00000380485.3_Silent_p.H124H|ASB9_ENST00000380483.3_Silent_p.H124H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Silent_p.H124H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	124					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CGCTGGCTCCGTGCTGCAGAA	0.488000													46	13					0	0	0.014410	0	0
TMEM26	219623	broad.mit.edu	37	10	63170317	63170317	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:63170317G>A	ENST00000399298.3	-	6	1238	c.870C>T	c.(868-870)gcC>gcT	p.A290A	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTTCTTCGCGGCAAAGAACA	0.507000													3	46					0	0	0.004672	0	0
DOT1L	84444	broad.mit.edu	37	19	2223362	2223362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:2223362A>G	ENST00000398665.3	+	25	3509	c.3473A>G	c.(3472-3474)cAg>cGg	p.Q1158R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1158						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCCTACCAGGACCACGAC	0.622000													11	62					0	0	0.010729	0	0
FUT5	2527	broad.mit.edu	37	19	5867388	5867388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:5867388C>T	ENST00000252675.5	-	5	911	c.349G>A	c.(349-351)Gac>Aac	p.D117N	FUT5_ENST00000588525.1_Missense_Mutation_p.D117N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	117					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						ATGACCGCGTCTGCCTGTGGG	0.642000													21	38					0	0	0.012319	0	0
EXT2	2132	broad.mit.edu	37	11	44146485	44146485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:44146485G>A	ENST00000395673.3	+	5	1045	c.989G>A	c.(988-990)cGt>cAt	p.R330H	EXT2_ENST00000358681.4_Missense_Mutation_p.R297H|EXT2_ENST00000343631.3_Missense_Mutation_p.R297H|EXT2_ENST00000533608.1_Missense_Mutation_p.R297H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	297					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTTCTGTCCGTAAGCGCTGC	0.502000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				19	75					0	0	0.008871	0	0
OR52N1	79473	broad.mit.edu	37	11	5809550	5809550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:5809550T>C	ENST00000317078.1	-	1	496	c.497A>G	c.(496-498)aAg>aGg	p.K166R	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	166					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)		TGGAAGGCGCTTGGTGAGGAA	0.488000													15	32					0	0	0.024245	0	0
TTLL9	164395	broad.mit.edu	37	20	30486334	30486334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr20:30486334C>T	ENST00000375938.4	+	4	425	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	TTLL9_ENST00000375922.4_Missense_Mutation_p.L8F|TTLL9_ENST00000375921.2_Missense_Mutation_p.L8F|TTLL9_ENST00000310998.4_Missense_Mutation_p.L8F|TTLL9_ENST00000375934.4_Missense_Mutation_p.L40F|TTLL9_ENST00000535842.1_Missense_Mutation_p.L58F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	58	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGGACGTCCTTCGCCACAG	0.522000													24	45					0	0	0.024334	0	0
MGAM	8972	broad.mit.edu	37	7	141721402	141721402	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:141721402A>C	ENST00000475668.2	+	6	629	c.575A>C	c.(574-576)aAt>aCt	p.N192T	MGAM_ENST00000549489.2_Missense_Mutation_p.N192T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	192					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAAACCAATAACAGGTTT	0.433000													10	33					0	0	0.006214	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864371	22864371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:22864371C>T	ENST00000251822.6	+	5	1150	c.613C>T	c.(613-615)Cga>Tga	p.R205*	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Nonsense_Mutation_p.R227*|RHOBTB2_ENST00000522948.1_Nonsense_Mutation_p.R212*|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	205	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACGCCATCCGAGCTGCACT	0.632000													29	56					0	0	0.030593	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590512	140590512	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140590512C>T	ENST00000239450.2	+	1	2222	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P341L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		678					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCCCCGGCCCAGGCC	0.692000													11	148					0	0	0.013537	0	0
MFAP5	8076	broad.mit.edu	37	12	8800752	8800752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:8800752G>A	ENST00000359478.2	-	10	644	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MFAP5_ENST00000396549.2_Missense_Mutation_p.R143C|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128C|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89C|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143C|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153						microfibril	extracellular matrix structural constituent	p.R153C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TAATTGGAGCGACGGAGTCTC	0.458000													27	56					0	0	0.041601	0	0
ZNF713	349075	broad.mit.edu	37	7	56007358	56007358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:56007358C>T	ENST00000429591.2	+	4	990	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCCTTTACTCAACATCTGAG	0.398000													39	147					0	0	0.027894	0	0
TOX	9760	broad.mit.edu	37	8	59764139	59764139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:59764139C>T	ENST00000361421.1	-	4	857	c.637G>A	c.(637-639)Gca>Aca	p.A213T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	213						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAAGGAGTTGCAGACTTGCTT	0.438000													15	79					0	0	0.038395	0	0
RUSC1	23623	broad.mit.edu	37	1	155292476	155292476	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:155292476C>T	ENST00000368352.5	+	2	1063	c.912C>T	c.(910-912)agC>agT	p.S304S	RUSC1_ENST00000368354.3_Silent_p.S304S|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	304						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGACGTCAGCGAGGAGCCGG	0.557000													35	117					0	0	0.013726	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	36					0	0	0.021553	0	0
ZNF514	84874	broad.mit.edu	37	2	95815453	95815453	+	Silent	SNP	G	G	C	rs140564139		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815453G>C	ENST00000295208.2	-	5	1239	c.777C>G	c.(775-777)ccC>ccG	p.P259P	ZNF514_ENST00000411425.1_Silent_p.P259P	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCATTCATAGGGCTTTTCTC	0.418000													30	130					0	0	0.034045	0	0
TNKS	8658	broad.mit.edu	37	8	9588487	9588487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:9588487G>A	ENST00000310430.6	+	14	2115	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	TNKS_ENST00000518281.1_Missense_Mutation_p.V460M	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	697					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTACAACCGCGTGTCTGTTGT	0.502000													33	6					0	0	0.045705	0	0
TRA2A	29896	broad.mit.edu	37	7	23561437	23561437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:23561437G>T	ENST00000297071.4	-	2	275	c.59C>A	c.(58-60)tCt>tAt	p.S20Y	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	20					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCCCGTTGGAGATTTTGACTG	0.433000													17	89					5.3912e-06	5.64793e-06	0.038395	1	0
FAM104A	84923	broad.mit.edu	37	17	71223343	71223343	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:71223343A>G	ENST00000405159.3	-	2	346	c.282T>C	c.(280-282)agT>agC	p.S94S	FAM104A_ENST00000403627.3_Silent_p.S94S|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	94	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTTCTGCTACTTCTTTTGG	0.408000													20	103					0	0	0.014323	0	0
N4BP2	55728	broad.mit.edu	37	4	40122594	40122594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:40122594G>A	ENST00000261435.6	+	9	3279	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	955						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						GCTGCTCAGTGAAATGACCTG	0.438000													28	36					0	0	0.034045	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605682	159605682	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr3:159605682C>T	ENST00000337808.6	+	5	1759	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P470P|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.P162P|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P381P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P354P|SCHIP1_ENST00000482804.1_Silent_p.P167P|SCHIP1_ENST00000445224.2_Silent_p.P151P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P443P	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		394						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAAAGTCTCCCGTCGCTGATC	0.458000													21	97					0	0	0.014323	0	0
HOGA1	112817	broad.mit.edu	37	10	99371333	99371333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:99371333C>T	ENST00000370646.4	+	7	1262	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	HOGA1_ENST00000370647.4_Missense_Mutation_p.P138S|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTATGGAGGCCCCTGCCGCGC	0.612000													17	31					0	0	0.033300	0	0
NXF1	10482	broad.mit.edu	37	11	62571396	62571396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:62571396G>A	ENST00000531709.2	-	2	196	c.83C>T	c.(82-84)cCc>cTc	p.P28L	NXF1_ENST00000532297.1_Missense_Mutation_p.P28L|NXF1_ENST00000439713.2_Missense_Mutation_p.P28L|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.P28L	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	28	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCACCGGAAGGGACCCCGGCC	0.473000													96	183					0	0	0.014410	0	0
F11	2160	broad.mit.edu	37	4	187205256	187205256	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr4:187205256C>T	ENST00000264692.4	+	11	1323	c.990C>T	c.(988-990)acC>acT	p.T330T	F11_ENST00000403665.2_Silent_p.T382T			P03951	FA11_HUMAN	coagulation factor XI	382	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGTACCACCAAAATCAAGC	0.502000													32	27					0	0	0.025465	0	0
DNAH8	1769	broad.mit.edu	37	6	38951989	38951989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr6:38951989C>T	ENST00000359357.3	+	85	12562	c.12308C>T	c.(12307-12309)tCa>tTa	p.S4103L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S4067L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGGTGTATCATGGAATACG	0.373000													11	45					0	0	0.016723	0	0
CHST15	51363	broad.mit.edu	37	10	125771991	125771991	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:125771991C>G	ENST00000346248.5	-	7	1995	c.1353G>C	c.(1351-1353)agG>agC	p.R451S	CHST15_ENST00000435907.1_Missense_Mutation_p.R451S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	451					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CAACCTGGAGCCTCACCTAGG	0.493000													8	18					0	0	0.038147	0	0
ZNF514	84874	broad.mit.edu	37	2	95815442	95815442	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:95815442C>A	ENST00000295208.2	-	5	1250	c.788G>T	c.(787-789)aGt>aTt	p.S263I	ZNF514_ENST00000411425.1_Missense_Mutation_p.S263I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CCCACATTCACTGCATTCATA	0.433000													26	115					3.01185e-09	3.23223e-09	0.021523	1	0
TIMELESS	8914	broad.mit.edu	37	12	56815168	56815168	+	Silent	SNP	C	C	T	rs113553695		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:56815168C>T	ENST00000229201.4	-	23	2986	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	TIMELESS_ENST00000553532.1_Silent_p.K945K|TIMELESS_ENST00000554616.1_Silent_p.K442K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	945					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTGCCGTTTCTTGTACAGCT	0.527000													75	66					0	0	0.014410	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215817	140215817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140215817G>A	ENST00000525929.1	+	1	1849	c.1849G>A	c.(1849-1851)Ggt>Agt	p.G617S	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G617S|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGCCGGTGCGAGCAT	0.642000													28	41					0	0	0.030593	0	0
CNGB3	54714	broad.mit.edu	37	8	87660048	87660048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:87660048C>G	ENST00000320005.5	-	8	1018	c.971G>C	c.(970-972)aGa>aCa	p.R324T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCTATTTGCTCTAAACATTGG	0.294000													26	114					0	0	0.024334	0	0
IFNK	56832	broad.mit.edu	37	9	27524569	27524569	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:27524569A>G	ENST00000276943.2	+	1	258	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	79					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CACCCAACCTATGAAGAGGGA	0.423000													32	82					0	0	0.015359	0	0
TRPM3	80036	broad.mit.edu	37	9	73151427	73151427	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:73151427G>A	ENST00000377110.2	-	25	4809	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	TRPM3_ENST00000423814.3_Silent_p.S1549S|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000360823.2_Silent_p.S1384S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000357533.2_Silent_p.S1526S|TRPM3_ENST00000377106.1_Silent_p.S1394S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1547						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						AAAACATAAAGCTATGAGATT	0.458000													59	30					0	0	0.014410	0	0
NSUN4	387338	broad.mit.edu	37	1	46810800	46810800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:46810800C>T	ENST00000474844.1	+	2	1071	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	NSUN4_ENST00000537428.1_Missense_Mutation_p.R92C|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.R92C	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	141							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGATATCAGTCGCTTCCCTCC	0.567000													16	55					0	0	0.043863	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302138	7302138	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7302138G>T	ENST00000537408.1	+	13	2668	c.2130G>T	c.(2128-2130)tcG>tcT	p.S710S	CLSTN3_ENST00000266546.6_Silent_p.S698S			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	698					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CACGCATGTCGGATGAGATTG	0.577000													36	54					9.9191e-30	1.17957e-29	0.033182	1	0
PXDNL	137902	broad.mit.edu	37	8	52321226	52321226	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr8:52321226G>A	ENST00000356297.4	-	17	3058	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	PXDNL_ENST00000543296.1_Silent_p.S986S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	986					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTTCAGGGCGGACAGCTCCG	0.642000													4	5					0	0	0.009096	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128284	150128284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:150128284G>T	ENST00000369124.4	+	3	480	c.202G>T	c.(202-204)Gag>Tag	p.E68*	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.E68*|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	68	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATATTCAAGAGGTATTTGA	0.438000													9	236					0.000673444	0.000693135	0.008291	1	0
TMEM194A	23306	broad.mit.edu	37	12	57454716	57454716	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:57454716C>T	ENST00000300128.4	-	8	1016	c.993G>A	c.(991-993)aaG>aaA	p.K331K	TMEM194A_ENST00000379391.3_Silent_p.K258K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	331						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTTCTGCTCCCTTACACACCT	0.438000													29	76					0	0	0.030593	0	0
SEPT3	55964	broad.mit.edu	37	22	42383247	42383247	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:42383247C>T	ENST00000396425.3	+	4	500	c.369C>T	c.(367-369)gtC>gtT	p.V123V	SEPT3_ENST00000396426.3_Silent_p.V123V|SEPT3_ENST00000291236.11_Silent_p.V59V|SEPT3_ENST00000406029.1_Silent_p.V59V|SEPT3_ENST00000328414.8_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	123					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGCTGACCGTCATCGACACCC	0.493000													22	54					0	0	0.018920	0	0
C10orf12	26148	broad.mit.edu	37	10	98742657	98742657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr10:98742657G>A	ENST00000286067.2	+	1	1617	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	504										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGGCCTCTGATAGGTGCCT	0.398000													32	62					0	0	0.045705	0	0
CDH20	28316	broad.mit.edu	37	18	59166671	59166671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:59166671G>A	ENST00000262717.4	+	3	897	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CDH20_ENST00000536675.2_Missense_Mutation_p.D167N|CDH20_ENST00000538374.1_Missense_Mutation_p.D167N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	167	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D167N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAAGTTCCTGGACGGACCTTA	0.502000													14	42					0	0	0.028581	0	0
FCGBP	8857	broad.mit.edu	37	19	40408592	40408592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr19:40408592C>T	ENST00000221347.6	-	8	4254	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1416	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGAGTTGCCGAACTCATT	0.637000													70	35					0	0	0.014410	0	0
NOTCH2	4853	broad.mit.edu	37	1	120467945	120467945	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:120467945C>T	ENST00000256646.2	-	25	4713	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1498	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGCTGTTCCCCTGGCATT	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				27	466					0	0	0.045705	0	0
C1S	716	broad.mit.edu	37	12	7169971	7169971	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:7169971G>A	ENST00000406697.1	+	6	826	c.198G>A	c.(196-198)gcG>gcA	p.A66A	C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.A66A|C1S_ENST00000328916.3_Silent_p.A66A			P09871	C1S_HUMAN	complement component 1, s subcomponent	66	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGAACTGTGCGTATGACTCAG	0.468000													37	151					0	0	0.023175	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554402	140554402	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr5:140554402G>T	ENST00000231137.3	+	1	2160	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGCTCCTGGTGGACGGCT	0.701000													15	54					1.33834e-09	1.44508e-09	0.043863	1	0
AKAP6	9472	broad.mit.edu	37	14	33293503	33293503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:33293503G>A	ENST00000280979.4	+	13	6654	c.6484G>A	c.(6484-6486)Ggt>Agt	p.G2162S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2162					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGTGTTGAGGGTGACTCTGA	0.478000													30	17					0	0	0.030593	0	0
BARD1	580	broad.mit.edu	37	2	215645436	215645436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr2:215645436T>C	ENST00000260947.4	-	4	1296	c.1162A>G	c.(1162-1164)Att>Gtt	p.I388V	BARD1_ENST00000449967.2_Missense_Mutation_p.I244V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	388					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGACTAATGAATTCATCG	0.423000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	114					0	0	0.021553	0	0
OR10A7	121364	broad.mit.edu	37	12	55615608	55615608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:55615608C>T	ENST00000326258.1	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCAAACCAGTCCCCTGAGAGC	0.507000													15	76					0	0	0.028581	0	0
ZNF800	168850	broad.mit.edu	37	7	127014179	127014179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:127014179G>C	ENST00000393313.1	-	5	1802	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S404*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S404*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTTATTTCTGAACTGTTGGC	0.348000													30	64					0	0	0.034045	0	0
LZTR1	8216	broad.mit.edu	37	22	21349206	21349206	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr22:21349206G>A	ENST00000215739.8	+	16	2192	c.1833G>A	c.(1831-1833)gtG>gtA	p.V611V	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.V592V	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	611					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCAACCAGGTGATCATGATGA	0.617000													51	108					0	0	0.014410	0	0
FREM2	341640	broad.mit.edu	37	13	39265184	39265184	+	Missense_Mutation	SNP	C	C	A	rs151214132		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr13:39265184C>A	ENST00000280481.7	+	1	3919	c.3703C>A	c.(3703-3705)Cat>Aat	p.H1235N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1235					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCCCCACTCATGGTCACAT	0.428000													58	258					2.12129e-23	2.4908e-23	0.014410	1	0
ALDH1B1	219	broad.mit.edu	37	9	38396909	38396909	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:38396909A>G	ENST00000377698.3	+	2	1317	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	388					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCTGTGGCGGAGAGCGTTTCG	0.562000													8	52					0	0	0.006214	0	0
C14orf37	145407	broad.mit.edu	37	14	58471868	58471868	+	Silent	SNP	T	T	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr14:58471868T>G	ENST00000267485.7	-	7	2348	c.2154A>C	c.(2152-2154)gtA>gtC	p.V718V		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	718						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCCCAACCCCTACAGGCACCA	0.488000													47	50					0	0	0.014410	0	0
PGBD5	79605	broad.mit.edu	37	1	230468601	230468601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:230468601G>A	ENST00000321327.2	-	7	1351	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L	PGBD5_ENST00000391860.1_Missense_Mutation_p.P306L|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	352						integral to membrane		p.P451L(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGCTGCACCGGGGAGTAGGC	0.627000													33	63					0	0	0.015359	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79588079	79588079	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:79588079C>A	ENST00000263849.4	+	2	176	c.74C>A	c.(73-75)aCa>aAa	p.T25K	ZC2HC1A_ENST00000521176.1_Intron	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	25																	TGTGGAAGAACATTCTTTCCA	0.323000													35	147					5.44703e-19	6.27442e-19	0.036044	1	0
PHC3	80012	broad.mit.edu	37	3	169840414	169840414	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:169840414C>G	ENST00000494943.1	-	9	1939	c.1871G>C	c.(1870-1872)aGa>aCa	p.R624T	PHC3_ENST00000467570.1_Missense_Mutation_p.R583T|PHC3_ENST00000495893.1_Missense_Mutation_p.R636T			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	624	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCTTCTCCTCTCCCCACTGT	0.398000													10	202					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56471961	56471961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr6:56471961G>A	ENST00000370754.5	-	39	7365	c.7366C>T	c.(7366-7368)Cag>Tag	p.Q2456*	DST_ENST00000312431.6_Nonsense_Mutation_p.Q2278*|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1952*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q2278*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q2278*|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2278					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	p.Q2278K(1)		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)			CCCAGAAACTGGTCTTGAAAT	0.383000													12	41					0	0	0.010729	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280093	18280093	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:18280093A>T	ENST00000377369.2	+	8	1556	c.1283A>T	c.(1282-1284)cAt>cTt	p.H428L	SLC39A12_ENST00000539911.1_Missense_Mutation_p.H294L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H428L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H428L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	428					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTGGTTTACATAAGCAGGAA	0.373000													11	42					0	0	0.010729	0	0
RTKN2	219790	broad.mit.edu	37	10	64022543	64022543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:64022543C>T	ENST00000373789.3	-	2	194	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					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)					TTCTCGCATTCGAATTTCTAA	0.333000													7	26					0	0	0.029380	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750656	76750656	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:76750656G>A	ENST00000533140.1	+	2	199	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	B3GNT6_ENST00000421061.1_Missense_Mutation_p.V21M|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V21M			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	21					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCTGGTGGGCGTGAGTTTCTT	0.657000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	37					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73849229	73849229	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:73849229A>G	ENST00000523207.1	+	3	2227	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	547					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)			ATACAATGAAATCACCAAGAC	0.488000													23	88					0	0	0.021523	0	0
UGGT2	55757	broad.mit.edu	37	13	96675306	96675306	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr13:96675306T>A	ENST00000376747.3	-	4	543	c.473A>T	c.(472-474)aAa>aTa	p.K158I	UGGT2_ENST00000376714.3_Missense_Mutation_p.K158I|UGGT2_ENST00000376712.4_Missense_Mutation_p.K158I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K158I	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	158					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGAAGCAGCTTTCTTCAGCAG	0.323000													22	56					0	0	0.014323	0	0
PGBD2	267002	broad.mit.edu	37	1	249211729	249211729	+	Missense_Mutation	SNP	C	C	G	rs75935520		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:249211729C>G	ENST00000355360.4	+	3	463	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	PGBD2_ENST00000329291.5_Missense_Mutation_p.L316V|PGBD2_ENST00000539153.1_Missense_Mutation_p.L313V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	316										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAGGGCACACTGTTTACCAA	0.512000													82	33					0	0	0.014410	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438000													13	36					0	0	0.020292	0	0
CFH	3075	broad.mit.edu	37	1	196642255	196642255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:196642255G>T	ENST00000367429.4	+	2	446	c.206G>T	c.(205-207)gGa>gTa	p.G69V	CFH_ENST00000359637.2_Missense_Mutation_p.G69V|CFH_ENST00000439155.2_Missense_Mutation_p.G69V|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	69	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCAGGAAGGGAGAATGGGTT	0.363000													69	44					2.72615e-36	3.28583e-36	0.014410	1	0
BAZ2B	29994	broad.mit.edu	37	2	160204131	160204131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:160204131C>T	ENST00000392783.2	-	31	5815	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1738K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1740K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1674K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGTTTTCTTCATTTTCATTC	0.343000													14	33					0	0	0.020292	0	0
DNAH5	1767	broad.mit.edu	37	5	13830755	13830755	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:13830755G>A	ENST00000265104.4	-	36	6116	c.6012C>T	c.(6010-6012)ttC>ttT	p.F2004F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2004	AAA 1 (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)					CTGAACAATTGAAAACCACGA	0.473000									Kartagener syndrome				19	104					0	0	0.008871	0	0
LAMA1	284217	broad.mit.edu	37	18	6943269	6943269	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr18:6943269C>A	ENST00000389658.3	-	62	9070	c.8977G>T	c.(8977-8979)Gtt>Ttt	p.V2993F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2993	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCCGTCAACAATCAGAGTG	0.488000													99	30					1.54295e-31	1.84748e-31	0.014410	1	0
LMBRD2	92255	broad.mit.edu	37	5	36111350	36111350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:36111350G>A	ENST00000296603.4	-	14	2113	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	551						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAACAACGGGTTCCCAAA	0.313000													16	36					0	0	0.028581	0	0
TBR1	10716	broad.mit.edu	37	2	162274717	162274717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:162274717C>T	ENST00000389554.3	+	3	1170	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCTAGGAAATCGGGTCTATAT	0.478000													19	28					0	0	0.038395	0	0
PRG4	10216	broad.mit.edu	37	1	186275519	186275519	+	Missense_Mutation	SNP	G	G	C	rs28698702		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:186275519G>C	ENST00000445192.2	+	7	713	c.668G>C	c.(667-669)gGa>gCa	p.G223A	PRG4_ENST00000367483.4_Missense_Mutation_p.G182A|PRG4_ENST00000367485.4_Missense_Mutation_p.G130A|PRG4_ENST00000367484.3_Missense_Mutation_p.G182A|PRG4_ENST00000367486.3_Missense_Mutation_p.G180A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	223					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GATGAAGCTGGAAGTGGATTG	0.393000													57	206					0	0	0.014410	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063143	48063143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr15:48063143G>T	ENST00000316364.5	+	19	2822	c.2383G>T	c.(2383-2385)Gcc>Tcc	p.A795S	SEMA6D_ENST00000537942.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A733S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A795S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A776S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A720S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A739S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A752S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	795					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCAGAAAAGGCCCATGGCCA	0.542000													24	53					5.45024e-15	6.12311e-15	0.018920	1	0
C12orf68	387856	broad.mit.edu	37	12	48578417	48578417	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:48578417A>G	ENST00000316554.3	+	1	1052	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	171						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTTGGGGGGGACGGGCCACTT	0.657000													2	5					0	0	0.004672	0	0
IRF4	3662	broad.mit.edu	37	6	407576	407576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr6:407576G>A	ENST00000380956.4	+	9	1460	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	445					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGATCTATCCGCCATTCCTCT	0.373000			T	IGH@	MM								21	49					0	0	0.012319	0	0
CD247	919	broad.mit.edu	37	1	167400951	167400951	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:167400951G>A	ENST00000392122.3	-	8	603	c.459C>T	c.(457-459)gaC>gaT	p.D153D	CD247_ENST00000362089.5_Silent_p.D154D|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	154	ITAM 3.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TGTGAAGGGCGTCGTAGGTGT	0.562000													8	211					0	0	0.004482	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174742	150174742	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:150174742G>T	ENST00000307271.3	+	5	2446	c.1872G>T	c.(1870-1872)ctG>ctT	p.L624L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	624						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			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)		TCAATGATCTGAGAAAAGAAA	0.443000													25	103					2.44723e-14	2.71583e-14	0.024334	1	0
TTC21A	199223	broad.mit.edu	37	3	39170771	39170771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:39170771G>A	ENST00000301819.6	+	15	2306	c.2129G>A	c.(2128-2130)aGa>aAa	p.R710K	TTC21A_ENST00000440121.1_Missense_Mutation_p.R661K|TTC21A_ENST00000431162.2_Missense_Mutation_p.R709K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	709							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGACCCTCAGAGACAGGCGC	0.522000													67	52					0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21730399	21730399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:21730399G>A	ENST00000328843.6	+	36	5993	c.5962G>A	c.(5962-5964)Gaa>Aaa	p.E1988K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1981K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1988	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTCTTGGGGAAGCTATCAC	0.363000									Kartagener syndrome				48	194					0	0	0.014410	0	0
GRAMD4	23151	broad.mit.edu	37	22	47054120	47054120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr22:47054120C>T	ENST00000406902.1	+	4	533	c.320C>T	c.(319-321)gCg>gTg	p.A107V	GRAMD4_ENST00000361034.3_Missense_Mutation_p.A107V			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	107					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAAACCAACGCGGAGATGCTG	0.657000													10	42					0	0	0.008291	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:169540507G>A	ENST00000340806.6	+	1	798	c.798G>A	c.(796-798)ggG>ggA	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612000													7	114					0	0	0.029380	0	0
RPL13A	23521	broad.mit.edu	37	19	49993179	49993179	+	Splice_Site	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:49993179G>A	ENST00000391857.4	+	2	164	c.88_splice	c.e2+1	p.G30_splice	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GGTACTGCTGGGTAAGTCGCT	0.592000													38	100					0	0	0.027894	0	0
TMTC2	160335	broad.mit.edu	37	12	83324299	83324299	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:83324299A>G	ENST00000549919.1	+	5	3360	c.1555A>G	c.(1555-1557)Aac>Gac	p.N519D	TMTC2_ENST00000321196.3_Missense_Mutation_p.N525D|TMTC2_ENST00000548305.1_Missense_Mutation_p.N525D			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	525						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTACCGCAGCAACATGGCTGA	0.433000													9	43					0	0	0.006214	0	0
FAM173B	134145	broad.mit.edu	37	5	10239377	10239377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:10239377C>T	ENST00000511437.1	-	2	120	c.108G>A	c.(106-108)tgG>tgA	p.W36*	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.W36*|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	36						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTAAGAACCCCCAGTTGCTTT	0.478000													60	109					0	0	0.014410	0	0
LIPI	149998	broad.mit.edu	37	21	15538694	15538694	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr21:15538694G>C	ENST00000344577.2	-	5	810	c.785C>G	c.(784-786)tCa>tGa	p.S262*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.S241*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	241					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGAAAATTGATTTAGGACA	0.358000													21	57					0	0	0.018920	0	0
RCE1	9986	broad.mit.edu	37	11	66612403	66612403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:66612403C>T	ENST00000309657.3	+	5	559	c.515C>T	c.(514-516)cCg>cTg	p.P172L	RCE1_ENST00000524506.1_Missense_Mutation_p.P172L|RCE1_ENST00000525356.1_Missense_Mutation_p.P49L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	172					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGATCGCCCCGCTGACAGAG	0.632000													21	10					0	0	0.008871	0	0
ELN	2006	broad.mit.edu	37	7	73477973	73477973	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:73477973C>T	ENST00000252034.7	+	29	2340	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	ELN_ENST00000320492.7_Silent_p.L566L|ELN_ENST00000358929.4_Silent_p.L715L|ELN_ENST00000380553.4_Silent_p.L511L|ELN_ENST00000380584.4_Silent_p.L599L|ELN_ENST00000380562.4_Silent_p.L653L|ELN_ENST00000380575.4_Silent_p.L618L|ELN_ENST00000357036.5_Silent_p.L652L|ELN_ENST00000445912.1_Silent_p.L647L|ELN_ENST00000380576.5_Silent_p.L628L|ELN_ENST00000320399.6_Silent_p.L680L|ELN_ENST00000458204.1_Silent_p.L637L|ELN_ENST00000414324.1_Silent_p.L623L|ELN_ENST00000429192.1_Silent_p.L633L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	709	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGCTGGGCTCGGAGGACTCG	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						58	86					0	0	0.014410	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176624	140176624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:140176624C>T	ENST00000526136.1	+	1	2075	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	PCDHA2_ENST00000378132.1_Missense_Mutation_p.T692M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T692M	NM_018905.2	NP_061728.1												p.T692M(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGCTACGCTGGTGGAT	0.647000													41	97					0	0	0.036044	0	0
OR13A1	79290	broad.mit.edu	37	10	45799805	45799805	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:45799805A>G	ENST00000553795.1	-	4	374	c.66T>C	c.(64-66)agT>agC	p.S22S	OR13A1_ENST00000536058.1_Silent_p.S22S|OR13A1_ENST00000374401.2_Silent_p.S22S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ACGTCTGGTTACTCATCATCC	0.502000													23	60					0	0	0.021523	0	0
CECR2	27443	broad.mit.edu	37	22	18022469	18022469	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr22:18022469G>T	ENST00000262608.8	+	15	2574	c.2574G>T	c.(2572-2574)atG>atT	p.M858I	CECR2_ENST00000400585.2_Missense_Mutation_p.M716I|CECR2_ENST00000400573.4_Missense_Mutation_p.M857I	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	899					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGACTCCATGATGGACAGCC	0.637000													26	61					2.44723e-14	2.71583e-14	0.024334	1	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847145	32847145	+	RNA	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr6:32847145G>A	ENST00000420261.1	-	0	480																											TGTCTAGCTAGTTTGATATTG	0.383000													4	8					0	0	0.009096	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098962	178098962	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:178098962A>G	ENST00000397062.3	-	2	637	c.83T>C	c.(82-84)aTa>aCa	p.I28T	NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAAGATCTATATCTTGCCT	0.358000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			19	14					0	0	0.010504	0	0
CDH23	64072	broad.mit.edu	37	10	73545397	73545397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:73545397G>A	ENST00000224721.6	+	43	5742	c.5737G>A	c.(5737-5739)Gtc>Atc	p.V1913I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1908	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACAGGGATCGTCACTGTGAA	0.582000													3	4					0	0	0.004672	0	0
SYT5	6861	broad.mit.edu	37	19	55687172	55687172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:55687172G>A	ENST00000354308.3	-	5	814	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.R149W|SYT5_ENST00000590851.1_Missense_Mutation_p.R146W	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	149	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTAGACCCGCACATAGGGG	0.622000													27	82					0	0	0.030593	0	0
EPHX4	253152	broad.mit.edu	37	1	92495663	92495663	+	Silent	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:92495663C>G	ENST00000370383.4	+	1	125	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	9						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATTGCCTGCCCCGCCTGATGC	0.701000													9	7					0	0	0.010729	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927243	43927243	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:43927243C>T	ENST00000282406.4	+	8	1256	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	382						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGATAGTTCCTCGGATGAAC	0.403000													51	63					0	0	0.014410	0	0
FDFT1	2222	broad.mit.edu	37	8	11660408	11660408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:11660408G>A	ENST00000220584.4	+	1	289	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	FDFT1_ENST00000525900.1_Missense_Mutation_p.G23S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.G23S|FDFT1_ENST00000538689.1_Intron	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	23					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGGATCGGGGGCAAGCGGAA	0.692000													4	15					0	0	0.009096	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620503	81620503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:81620503G>C	ENST00000356860.3	-	21	2132	c.1794C>G	c.(1792-1794)taC>taG	p.Y598*	CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Y617*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	617						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAATTACCTGTAATCTGTGC	0.308000													17	32					0	0	0.033300	0	0
LETM2	137994	broad.mit.edu	37	8	38264944	38264944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:38264944C>A	ENST00000379957.4	+	10	1503	c.1376C>A	c.(1375-1377)tCa>tAa	p.S459*	LETM2_ENST00000527710.1_Nonsense_Mutation_p.S245*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.S364*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.S411*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S412*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	459						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)			ACACCTATTTCATTACCTAAA	0.378000													30	89					3.1745e-13	3.48047e-13	0.037714	1	0
TTN	7273	broad.mit.edu	37	2	179517412	179517412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:179517412G>A	ENST00000589042.1	-	201	39235	c.39011C>T	c.(39010-39012)cCt>cTt	p.P13004L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11346	Ig-like 86.						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)			CTTTTTAGGAGGAGCCGAGGG	0.388000													92	140					0	0	0.014410	0	0
ATF7	11016	broad.mit.edu	37	12	53918430	53918430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:53918430C>A	ENST00000420353.2	-	10	1192	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	ATF7_ENST00000415113.1_Missense_Mutation_p.R327L|ATF7_ENST00000546661.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R348L|ATF7_ENST00000328463.7_Missense_Mutation_p.R359L|ATF7_ENST00000548446.2_Missense_Mutation_p.R359L|ATF7_ENST00000456903.4_Missense_Mutation_p.R348L	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	359	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TTGGCGGCAGCGGGAGGCTGC	0.607000													33	45					3.03874e-20	3.52262e-20	0.015359	1	0
FCF1	51077	broad.mit.edu	37	14	75182665	75182665	+	Missense_Mutation	SNP	C	C	G	rs114572906	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr14:75182665C>G	ENST00000341162.4	+	4	209	c.155C>G	c.(154-156)cCt>cGt	p.P52R	FCF1_ENST00000553615.1_Missense_Mutation_p.P37R|FCF1_ENST00000534938.2_Missense_Mutation_p.P40R	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	52					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CCCCAACACCCTTCCTGCTTA	0.373000													12	178					0	0	0.013537	0	0
CTNND2	1501	broad.mit.edu	37	5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	rs148824970	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617000													15	59					0	0	0.033300	0	0
AVPR1B	553	broad.mit.edu	37	1	206224960	206224960	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:206224960C>T	ENST00000367126.4	+	1	985	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	174					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATTTTTTCCCTGCGGGAGGT	0.647000													14	107					0	0	0.016723	0	0
CDK11B	984	broad.mit.edu	37	1	1586909	1586909	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:1586909G>T	ENST00000407249.3	-	2	140	c.141C>A	c.(139-141)tcC>tcA	p.S47S	CDK11B_ENST00000317673.7_Silent_p.S47S|CDK11B_ENST00000341832.6_Silent_p.S13S|CDK11B_ENST00000340677.5_Silent_p.S47S			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	47					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						cctcctcaagggaatcccgct	0.408000													18	14					1.40151e-16	1.59422e-16	0.010504	1	0
WEE2	494551	broad.mit.edu	37	7	141418927	141418927	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:141418927A>T	ENST00000397541.2	+	4	1047	c.641A>T	c.(640-642)gAg>gTg	p.E214V	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	214	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAATTCTTGGAGGTTGAAAAA	0.353000													60	52					0	0	0.014410	0	0
LARP4B	23185	broad.mit.edu	37	10	931622	931622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:931622G>A	ENST00000316157.3	-	1	80	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	14							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTCTGCGTCTGCGGTTCAGCC	0.512000													26	45					0	0	0.012213	0	0
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552000													42	127					0	0	0.036044	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149358	73149358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:73149358G>A	ENST00000286657.4	-	22	3149	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1038	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTGGTATGGAGCAGTATCG	0.418000													7	116					0	0	0.038147	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951598	130951598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:130951598C>T	ENST00000312988.7	-	4	917	c.817G>A	c.(817-819)Gcc>Acc	p.A273T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	273					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ATGACTGGGGCGTAGGTGGCC	0.597000													32	199					0	0	0.033182	0	0
DICER1	23405	broad.mit.edu	37	14	95584087	95584087	+	Missense_Mutation	SNP	T	T	C	rs141163928		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr14:95584087T>C	ENST00000526495.1	-	11	1672	c.1381A>G	c.(1381-1383)Ata>Gta	p.I461V	DICER1_ENST00000527414.1_Missense_Mutation_p.I461V|DICER1_ENST00000541352.1_Missense_Mutation_p.I461V|DICER1_ENST00000393063.1_Missense_Mutation_p.I461V|DICER1_ENST00000343455.3_Missense_Mutation_p.I461V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	461	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTTCCTTTATCAATCTAAGA	0.348000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	43					0	0	0.038147	0	0
BPIFB4	149954	broad.mit.edu	37	20	31677343	31677343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr20:31677343G>C	ENST00000375483.3	+	7	1030	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	344						cytoplasm|extracellular region	lipid binding										TCTTGTCAATGACCAGCTGGG	0.582000													54	66					0	0	0.014410	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049095	36049095	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:36049095A>G	ENST00000282507.3	-	4	840	c.739T>C	c.(739-741)Tgg>Cgg	p.W247R	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.W213R|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	247						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAATGAACCACAACTCTGCT	0.428000													66	77					0	0	0.014410	0	0
ABCG8	64241	broad.mit.edu	37	2	44078781	44078781	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:44078781C>G	ENST00000272286.2	+	4	471	c.381C>G	c.(379-381)atC>atG	p.I127M		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	127	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGGCAAGATCAAGTCAGGCC	0.602000													42	48					0	0	0.030466	0	0
FLG	2312	broad.mit.edu	37	1	152281214	152281214	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:152281214G>T	ENST00000368799.1	-	3	6183	c.6148C>A	c.(6148-6150)Cat>Aat	p.H2050N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2050	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTGAATGTCCCTCACTG	0.562000									Ichthyosis				30	863					1.08312e-15	1.2244e-15	0.041601	1	0
KMT2D	8085	broad.mit.edu	37	12	49435964	49435964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:49435964C>T	ENST00000301067.7	-	28	6016	c.6017G>A	c.(6016-6018)tGg>tAg	p.W2006*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCCTTCTCCCAGCGCTGAAG	0.582000													11	3					0	0	0.008291	0	0
PLCB1	23236	broad.mit.edu	37	20	8745992	8745992	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr20:8745992G>T	ENST00000378641.3	+	26	3392	c.2917G>T	c.(2917-2919)Gac>Tac	p.D973Y	PLCB1_ENST00000378637.2_Missense_Mutation_p.D973Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D973Y|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	973					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						CGCCAAAAAGGACAGTAAGAA	0.328000													31	27					7.63505e-26	9.02324e-26	0.012213	1	0
SLC6A3	6531	broad.mit.edu	37	5	1416215	1416215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:1416215G>T	ENST00000270349.9	-	7	1156	c.1029C>A	c.(1027-1029)taC>taA	p.Y343*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.Y343*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	343					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGCTCACCTGTAGCAGTTGT	0.587000													14	57					1.05317e-09	1.14777e-09	0.020292	1	0
IL2	3558	broad.mit.edu	37	4	123377563	123377563	+	Silent	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:123377563T>C	ENST00000226730.4	-	1	317	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	11					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		CAAGACTTAGTGCAATGCAAG	0.413000			T	TNFRSF17	intestinal T-cell lymphoma								39	22					0	0	0.033182	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072831	15072831	+	Silent	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:15072831C>A	ENST00000598504.1	-	8	2277	c.918G>T	c.(916-918)ctG>ctT	p.L306L	SLC1A6_ENST00000600144.1_Silent_p.L306L|SLC1A6_ENST00000221742.3_Silent_p.L306L|SLC1A6_ENST00000544886.2_Silent_p.L306L|SLC1A6_ENST00000430939.2_Silent_p.L242L	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	306					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGATGCCCACCAGCCTCATAA	0.572000													4	92					0.00909568	0.00924812	0.009096	1	0
SBK2	646643	broad.mit.edu	37	19	56042631	56042631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:56042631G>C	ENST00000413299.1	-	3	372	c.335C>G	c.(334-336)tCg>tGg	p.S112W	SBK2_ENST00000344158.3_Missense_Mutation_p.S112W	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	112	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGCGCCCAGCGAGAGCCCCAC	0.667000													5	24					0	0	0.014758	0	0
ZNF484	83744	broad.mit.edu	37	9	95609196	95609196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:95609196C>T	ENST00000395505.2	-	3	1857	c.1765G>A	c.(1765-1767)Gta>Ata	p.V589I	ZNF484_ENST00000375495.3_Missense_Mutation_p.V625I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.V627I|ZNF484_ENST00000332591.6_Missense_Mutation_p.V589I	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGCTGATGTACGTGGAGCTGT	0.393000													25	41					0	0	0.016522	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	88					0	0	0.021553	0	0
GLRA2	2742	broad.mit.edu	37	X	14748410	14748410	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chrX:14748410G>A	ENST00000218075.4	+	9	1692	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A388T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A299T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	388					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGATGGAACAGCTGTCAAGGC	0.473000													7	172					0	0	0.029380	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431883	140431883	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:140431883G>T	ENST00000306549.3	+	1	905	c.828G>T	c.(826-828)gcG>gcT	p.A276A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAACAAAGCGATAACTTACT	0.507000													7	31					0.00198382	0.00203986	0.029380	1	0
TTN	7273	broad.mit.edu	37	2	179463494	179463494	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:179463494C>T	ENST00000589042.1	-	291	57167	c.56943G>A	c.(56941-56943)gcG>gcA	p.A18981A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.A16413A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A17340A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Silent_p.A9916A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A10041A|TTN_ENST00000342175.6_Silent_p.A10108A|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17340	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(1)		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)			CTCTAGCAGTCGCTGGGTCTG	0.418000													56	162					0	0	0.014410	0	0
GPC5	2262	broad.mit.edu	37	13	92380812	92380812	+	Silent	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr13:92380812A>T	ENST00000377067.3	+	4	1419	c.1047A>T	c.(1045-1047)gtA>gtT	p.V349V	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	349						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCGCCCTGTAAGAACACCCA	0.423000													14	126					0	0	0.016723	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532547	71532547	+	Silent	SNP	G	G	A	rs61752951	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:71532547G>A	ENST00000265382.3	+	9	1160	c.855G>A	c.(853-855)gaG>gaA	p.E285E	PIP5K1B_ENST00000541509.1_Silent_p.E285E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	285	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGAAAGAGGAGGAGACCCCAC	0.463000													10	215					0	0	0.006214	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134473675	134473675	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:134473675G>C	ENST00000372195.1	-	13	2260	c.2017C>G	c.(2017-2019)Ctg>Gtg	p.L673V	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L656V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L674V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	656					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCCGACTCCAGAGCATCTGGT	0.582000													10	16					0	0	0.006214	0	0
NXPH1	30010	broad.mit.edu	37	7	8790658	8790658	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:8790658G>A	ENST00000405863.1	+	3	986	c.75G>A	c.(73-75)acG>acA	p.T25T	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	25	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CCAATTTAACGAACGGTGGAA	0.423000													69	71					0	0	0.014410	0	0
SERPINC1	462	broad.mit.edu	37	1	173881055	173881055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:173881055G>T	ENST00000367698.3	-	3	624	c.506C>A	c.(505-507)tCc>tAc	p.S169Y		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	169					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TAACTTGGAGGATTTGTTGGC	0.423000													18	186					7.07596e-05	7.44407e-05	0.038395	1	0
NOS2	4843	broad.mit.edu	37	17	26114800	26114800	+	Missense_Mutation	SNP	C	C	T	rs148763708	byFrequency	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr17:26114800C>T	ENST00000313735.6	-	5	604	c.371G>A	c.(370-372)aGt>aAt	p.S124N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	124					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCTGGTCAAACTTTTGGGAGT	0.498000													6	164					0	0	0.021553	0	0
OSR1	130497	broad.mit.edu	37	2	19552911	19552911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:19552911C>T	ENST00000536433.1	-	1	3766	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	OSR1_ENST00000272223.2_Missense_Mutation_p.R219Q			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	219					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CCTGTGGTCTCGCAGGTGGTC	0.597000													48	65					0	0	0.014410	0	0
DKK3	27122	broad.mit.edu	37	11	12030045	12030045	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:12030045A>T	ENST00000396505.2	-	2	323	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	DKK3_ENST00000326932.4_Missense_Mutation_p.S29T|DKK3_ENST00000525493.1_Missense_Mutation_p.S29T|DKK3_ENST00000450094.2_Missense_Mutation_p.S29T|DKK3_ENST00000527132.1_5'UTR	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	29	O-glycosylated at one site.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACTGGAGCCGAGGTCGCCGTC	0.716000													3	13					0	0	0.009096	0	0
MAGI1	9223	broad.mit.edu	37	3	65376930	65376930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:65376930G>A	ENST00000330909.8	-	14	2302	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	MAGI1_ENST00000483466.1_Missense_Mutation_p.P768L|MAGI1_ENST00000497477.2_Missense_Mutation_p.P768L|MAGI1_ENST00000402939.2_Missense_Mutation_p.P768L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	768					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGGAACTCGGGGAGCACCTG	0.547000													54	25					0	0	0.014410	0	0
SPAM1	6677	broad.mit.edu	37	7	123593871	123593871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:123593871G>A	ENST00000340011.5	+	3	604	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000439500.1_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T|SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	83					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CCGAATAAACGCCACCGGGCA	0.443000													26	33					0	0	0.018920	0	0
HHIP	64399	broad.mit.edu	37	4	145581029	145581029	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:145581029C>T	ENST00000434550.2	+	4	1374	c.870C>T	c.(868-870)taC>taT	p.Y290Y	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000296575.3_Intron			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	155						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCTGGCTACGTTAATTTTA	0.313000													5	10					0	0	0.014758	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235551	33235551	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:33235551C>T	ENST00000401073.2	+	6	841	c.771C>T	c.(769-771)ccC>ccT	p.P257P	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.P209P|KIAA1522_ENST00000373480.1_Silent_p.P198P	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	198										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TACGCATCCCCACAGTGGACG	0.721000													13	14					0	0	0.013537	0	0
KCNK13	56659	broad.mit.edu	37	14	90650616	90650616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr14:90650616C>T	ENST00000282146.4	+	2	937	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	166						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCGGCAGCTCCGGAGACGAGG	0.612000													5	76					0	0	0.021553	0	0
KCNG2	26251	broad.mit.edu	37	18	77659522	77659522	+	Silent	SNP	C	C	T	rs3744887		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr18:77659522C>T	ENST00000316249.3	+	2	1107	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	369					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCATGACCACCGTGGGCTACG	0.706000													25	15					0	0	0.024334	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213555	108213555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:108213555C>T	ENST00000249356.3	+	3	976	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	144					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	p.R144C(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTCCAGACACGCCAGGATGG	0.348000													21	62					0	0	0.010504	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221350	56221350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:56221350G>A	ENST00000357606.3	-	3	1382	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	DNAJC14_ENST00000317287.5_Missense_Mutation_p.L365F|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L365F			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	365					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGAGAAGAGCCAGGTAGCC	0.567000													22	70					0	0	0.010504	0	0
COPB1	1315	broad.mit.edu	37	11	14504607	14504607	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:14504607C>G	ENST00000249923.3	-	8	1228	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E310Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	310					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCAGGATGCTCTTTTAATTCT	0.333000													27	5					0	0	0.034045	0	0
FNDC9	408263	broad.mit.edu	37	5	156770492	156770492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:156770492G>T	ENST00000312349.4	-	2	240	c.53C>A	c.(52-54)tCg>tAg	p.S18*	CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	18	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCCGAGGACGACCAGGAGAT	0.498000													16	42					3.57192e-18	4.08862e-18	0.038395	1	0
NKD2	85409	broad.mit.edu	37	5	1033581	1033581	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:1033581G>A	ENST00000296849.5	+	5	526	c.297G>A	c.(295-297)ccG>ccA	p.P99P	NKD2_ENST00000274150.4_Silent_p.P99P|NKD2_ENST00000537972.1_Silent_p.P99P	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	99	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCGAGGGCCCGCGAGGACCGG	0.692000													4	2					0	0	0.014758	0	0
SHOX2	6474	broad.mit.edu	37	3	157820514	157820514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:157820514G>A	ENST00000490689.2	-	2	1654	c.121C>T	c.(121-123)Cga>Tga	p.R41*	SHOX2_ENST00000483851.2_Nonsense_Mutation_p.R170*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.R194*|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.R170*|SHOX2_ENST00000554685.1_5'UTR			O60902	SHOX2_HUMAN	short stature homeobox 2	170					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGTTCCTCTCGCATGAAGGCG	0.597000													23	246					0	0	0.016522	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784508	15784508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:15784508C>T	ENST00000550308.1	+	2	549	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57W	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCCCCCAAAACGGAACTGGTT	0.592000													6	123					0	0	0.021553	0	0
TICAM1	148022	broad.mit.edu	37	19	4816803	4816803	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:4816803C>A	ENST00000248244.5	-	2	1816	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	529	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCTGTGGGGCTTGAAGGTGT	0.657000													13	23					7.93312e-07	8.44344e-07	0.020292	1	0
ATP9A	10079	broad.mit.edu	37	20	50234077	50234077	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr20:50234077G>A	ENST00000338821.5	-	22	2631	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	ATP9A_ENST00000402822.1_Silent_p.D668D|ATP9A_ENST00000311637.5_Silent_p.D653D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	789					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGCTGACGTCATTGCCTC	0.498000													6	11					0	0	0.038147	0	0
FEZF1	389549	broad.mit.edu	37	7	121943848	121943848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:121943848C>G	ENST00000442488.2	-	1	711	c.644G>C	c.(643-645)gGa>gCa	p.G215A	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.G215A|FEZF1_ENST00000427185.2_Missense_Mutation_p.G165A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	215					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAAAGCTACTCCAGAAGGGTA	0.507000													23	55					0	0	0.016522	0	0
TAOK2	9344	broad.mit.edu	37	16	29993064	29993064	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr16:29993064G>T	ENST00000308893.4	+	9	1781	c.738G>T	c.(736-738)caG>caT	p.Q246H	TAOK2_ENST00000416441.2_Missense_Mutation_p.Q73H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q246H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q246H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	246	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCGTGCTCCAGTCAGGACACT	0.542000													14	59					7.93312e-07	8.44344e-07	0.020292	1	0
TNFRSF10A	8797	broad.mit.edu	37	8	23082438	23082438	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:23082438T>C	ENST00000221132.3	-	1	201	c.137A>G	c.(136-138)gAa>gGa	p.E46G	RP11-1149O23.3_ENST00000517774.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	46					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCTCGTGGTTCAATCCTCCC	0.726000													3	1					0	0	0.004672	0	0
CCT6A	908	broad.mit.edu	37	7	56120139	56120139	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:56120139C>T	ENST00000275603.4	+	2	381	c.162C>T	c.(160-162)atC>atT	p.I54I	CCT6A_ENST00000335503.3_Silent_p.I54I|CCT6A_ENST00000540286.1_Silent_p.I23I	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	54					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGAGACATCAAACTTACTA	0.423000													48	88					0	0	0.014410	0	0
F13A1	2162	broad.mit.edu	37	6	6266932	6266932	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr6:6266932G>T	ENST00000264870.3	-	4	695	c.430C>A	c.(430-432)Cgg>Agg	p.R144R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512000													20	43					3.99206e-14	4.40336e-14	0.043863	1	0
ABCA5	23461	broad.mit.edu	37	17	67302927	67302927	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr17:67302927C>T	ENST00000392676.3	-	6	791	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ABCA5_ENST00000392677.2_Missense_Mutation_p.E243K|ABCA5_ENST00000588877.1_Missense_Mutation_p.E243K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	243					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTTCTTTTTCTGCTACGATA	0.254000													13	32					0	0	0.013537	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849445	171849445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:171849445C>T	ENST00000311601.5	-	2	301	c.131G>A	c.(130-132)cGc>cAc	p.R44H	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R44H	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	44	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGTAGCGCCGGTAAAT	0.517000													6	11					0	0	0.021553	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672830	113672830	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:113672830C>T	ENST00000330212.3	+	3	744	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	ZDHHC23_ENST00000498275.1_Silent_p.L143L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	149						integral to membrane	acyltransferase activity|zinc ion binding	p.L149V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACTGTTCTCTCTGGGCTACAT	0.522000													34	96					0	0	0.045705	0	0
ASB9	140462	broad.mit.edu	37	X	15270437	15270437	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chrX:15270437G>A	ENST00000546332.1	-	5	855	c.372C>T	c.(370-372)caC>caT	p.H124H	ASB9_ENST00000380488.4_Silent_p.H124H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Silent_p.H124H|ASB9_ENST00000380485.3_Silent_p.H124H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	124					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CGCTGGCTCCGTGCTGCAGAA	0.488000													46	13					0	0	0.014410	0	0
TMEM26	219623	broad.mit.edu	37	10	63170317	63170317	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:63170317G>A	ENST00000399298.3	-	6	1238	c.870C>T	c.(868-870)gcC>gcT	p.A290A	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTTCTTCGCGGCAAAGAACA	0.507000													3	46					0	0	0.004672	0	0
DOT1L	84444	broad.mit.edu	37	19	2223362	2223362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:2223362A>G	ENST00000398665.3	+	25	3509	c.3473A>G	c.(3472-3474)cAg>cGg	p.Q1158R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1158						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCCTACCAGGACCACGAC	0.622000													11	62					0	0	0.010729	0	0
FUT5	2527	broad.mit.edu	37	19	5867388	5867388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:5867388C>T	ENST00000252675.5	-	5	911	c.349G>A	c.(349-351)Gac>Aac	p.D117N	FUT5_ENST00000588525.1_Missense_Mutation_p.D117N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	117					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						ATGACCGCGTCTGCCTGTGGG	0.642000													21	38					0	0	0.012319	0	0
EXT2	2132	broad.mit.edu	37	11	44146485	44146485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:44146485G>A	ENST00000395673.3	+	5	1045	c.989G>A	c.(988-990)cGt>cAt	p.R330H	EXT2_ENST00000533608.1_Missense_Mutation_p.R297H|EXT2_ENST00000358681.4_Missense_Mutation_p.R297H|EXT2_ENST00000343631.3_Missense_Mutation_p.R297H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	297					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTTCTGTCCGTAAGCGCTGC	0.502000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				19	75					0	0	0.008871	0	0
OR52N1	79473	broad.mit.edu	37	11	5809550	5809550	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:5809550T>C	ENST00000317078.1	-	1	496	c.497A>G	c.(496-498)aAg>aGg	p.K166R	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	166					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)		TGGAAGGCGCTTGGTGAGGAA	0.488000													15	32					0	0	0.024245	0	0
TTLL9	164395	broad.mit.edu	37	20	30486334	30486334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr20:30486334C>T	ENST00000375938.4	+	4	425	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F	TTLL9_ENST00000535842.1_Missense_Mutation_p.L58F|TTLL9_ENST00000375934.4_Missense_Mutation_p.L40F|TTLL9_ENST00000375921.2_Missense_Mutation_p.L8F|TTLL9_ENST00000375922.4_Missense_Mutation_p.L8F|TTLL9_ENST00000310998.4_Missense_Mutation_p.L8F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	58	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGGACGTCCTTCGCCACAG	0.522000													24	45					0	0	0.024334	0	0
MGAM	8972	broad.mit.edu	37	7	141721402	141721402	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:141721402A>C	ENST00000475668.2	+	6	629	c.575A>C	c.(574-576)aAt>aCt	p.N192T	MGAM_ENST00000549489.2_Missense_Mutation_p.N192T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	192					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAAACCAATAACAGGTTT	0.433000													10	33					0	0	0.006214	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864371	22864371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:22864371C>T	ENST00000251822.6	+	5	1150	c.613C>T	c.(613-615)Cga>Tga	p.R205*	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Nonsense_Mutation_p.R212*|RHOBTB2_ENST00000519685.1_Nonsense_Mutation_p.R227*|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	205	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACGCCATCCGAGCTGCACT	0.632000													29	56					0	0	0.030593	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229896	142229896	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:142229896G>C	ENST00000519067.1	-	3	613	c.310C>G	c.(310-312)Ccc>Gcc	p.P104A	SLC45A4_ENST00000433583.2_Missense_Mutation_p.P97A|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P155A|SLC45A4_ENST00000024061.3_Missense_Mutation_p.P104A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	155					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			ATGCCAATGGGCTGCCGGTTG	0.662000													6	5					0	0	0.029380	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590512	140590512	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:140590512C>T	ENST00000239450.2	+	1	2222	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P341L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		678					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCCCCGGCCCAGGCC	0.692000													11	148					0	0	0.013537	0	0
MFAP5	8076	broad.mit.edu	37	12	8800752	8800752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:8800752G>A	ENST00000359478.2	-	10	644	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MFAP5_ENST00000543369.1_Missense_Mutation_p.R131C|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143C|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89C|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128C|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153						microfibril	extracellular matrix structural constituent	p.R153C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TAATTGGAGCGACGGAGTCTC	0.458000													27	56					0	0	0.041601	0	0
ZNF713	349075	broad.mit.edu	37	7	56007358	56007358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:56007358C>T	ENST00000429591.2	+	4	990	c.952C>T	c.(952-954)Caa>Taa	p.Q318*	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCCTTTACTCAACATCTGAG	0.398000													39	147					0	0	0.027894	0	0
TOX	9760	broad.mit.edu	37	8	59764139	59764139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:59764139C>T	ENST00000361421.1	-	4	857	c.637G>A	c.(637-639)Gca>Aca	p.A213T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	213						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GAAGGAGTTGCAGACTTGCTT	0.438000													15	79					0	0	0.038395	0	0
RUSC1	23623	broad.mit.edu	37	1	155292476	155292476	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:155292476C>T	ENST00000368352.5	+	2	1063	c.912C>T	c.(910-912)agC>agT	p.S304S	RUSC1_ENST00000368354.3_Silent_p.S304S|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	304						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGACGTCAGCGAGGAGCCGG	0.557000													35	117					0	0	0.013726	0	0
ZNF514	84874	broad.mit.edu	37	2	95815453	95815453	+	Silent	SNP	G	G	C	rs140564139		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:95815453G>C	ENST00000295208.2	-	5	1239	c.777C>G	c.(775-777)ccC>ccG	p.P259P	ZNF514_ENST00000411425.1_Silent_p.P259P	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCATTCATAGGGCTTTTCTC	0.418000													30	130					0	0	0.034045	0	0
TNKS	8658	broad.mit.edu	37	8	9588487	9588487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:9588487G>A	ENST00000310430.6	+	14	2115	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	TNKS_ENST00000518281.1_Missense_Mutation_p.V460M	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	697					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTACAACCGCGTGTCTGTTGT	0.502000													33	6					0	0	0.045705	0	0
TRA2A	29896	broad.mit.edu	37	7	23561437	23561437	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:23561437G>T	ENST00000297071.4	-	2	275	c.59C>A	c.(58-60)tCt>tAt	p.S20Y	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	20					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCCCGTTGGAGATTTTGACTG	0.433000													17	89					5.3912e-06	5.70465e-06	0.038395	1	0
FAM104A	84923	broad.mit.edu	37	17	71223343	71223343	+	Silent	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr17:71223343A>G	ENST00000405159.3	-	2	346	c.282T>C	c.(280-282)agT>agC	p.S94S	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Silent_p.S94S|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	94	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTTTCTGCTACTTCTTTTGG	0.408000													20	103					0	0	0.014323	0	0
N4BP2	55728	broad.mit.edu	37	4	40122594	40122594	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:40122594G>A	ENST00000261435.6	+	9	3279	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	955						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						GCTGCTCAGTGAAATGACCTG	0.438000													28	36					0	0	0.034045	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605682	159605682	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr3:159605682C>T	ENST00000337808.6	+	5	1759	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P443P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P354P|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P381P|SCHIP1_ENST00000482804.1_Silent_p.P167P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P470P|SCHIP1_ENST00000445224.2_Silent_p.P151P|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.P162P	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		394						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAAAGTCTCCCGTCGCTGATC	0.458000													21	97					0	0	0.014323	0	0
HOGA1	112817	broad.mit.edu	37	10	99371333	99371333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:99371333C>T	ENST00000370646.4	+	7	1262	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Missense_Mutation_p.P138S|PI4K2A_ENST00000370649.3_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CTATGGAGGCCCCTGCCGCGC	0.612000													17	31					0	0	0.033300	0	0
NXF1	10482	broad.mit.edu	37	11	62571396	62571396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:62571396G>A	ENST00000531709.2	-	2	196	c.83C>T	c.(82-84)cCc>cTc	p.P28L	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.P28L|NXF1_ENST00000532297.1_Missense_Mutation_p.P28L|NXF1_ENST00000439713.2_Missense_Mutation_p.P28L	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	28	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCACCGGAAGGGACCCCGGCC	0.473000													96	183					0	0	0.014410	0	0
F11	2160	broad.mit.edu	37	4	187205256	187205256	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:187205256C>T	ENST00000264692.4	+	11	1323	c.990C>T	c.(988-990)acC>acT	p.T330T	F11_ENST00000403665.2_Silent_p.T382T			P03951	FA11_HUMAN	coagulation factor XI	382	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGTACCACCAAAATCAAGC	0.502000													32	27					0	0	0.025465	0	0
DNAH8	1769	broad.mit.edu	37	6	38951989	38951989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr6:38951989C>T	ENST00000359357.3	+	85	12562	c.12308C>T	c.(12307-12309)tCa>tTa	p.S4103L	DNAH8_ENST00000441566.1_Missense_Mutation_p.S4067L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGGTGTATCATGGAATACG	0.373000													11	45					0	0	0.016723	0	0
CHST15	51363	broad.mit.edu	37	10	125771991	125771991	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:125771991C>G	ENST00000346248.5	-	7	1995	c.1353G>C	c.(1351-1353)agG>agC	p.R451S	CHST15_ENST00000435907.1_Missense_Mutation_p.R451S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	451					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CAACCTGGAGCCTCACCTAGG	0.493000													8	18					0	0	0.038147	0	0
ZNF514	84874	broad.mit.edu	37	2	95815442	95815442	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:95815442C>A	ENST00000295208.2	-	5	1250	c.788G>T	c.(787-789)aGt>aTt	p.S263I	ZNF514_ENST00000411425.1_Missense_Mutation_p.S263I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						CCCACATTCACTGCATTCATA	0.433000													26	115					3.01185e-09	3.24353e-09	0.021523	1	0
TIMELESS	8914	broad.mit.edu	37	12	56815168	56815168	+	Silent	SNP	C	C	T	rs113553695		TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:56815168C>T	ENST00000229201.4	-	23	2986	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	TIMELESS_ENST00000553532.1_Silent_p.K945K|TIMELESS_ENST00000554616.1_Silent_p.K442K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	945					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTGCCGTTTCTTGTACAGCT	0.527000													75	66					0	0	0.014410	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215817	140215817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:140215817G>A	ENST00000525929.1	+	1	1849	c.1849G>A	c.(1849-1851)Ggt>Agt	p.G617S	PCDHA7_ENST00000378125.3_Missense_Mutation_p.G617S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGGCCGGTGCGAGCAT	0.642000													28	41					0	0	0.030593	0	0
CNGB3	54714	broad.mit.edu	37	8	87660048	87660048	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:87660048C>G	ENST00000320005.5	-	8	1018	c.971G>C	c.(970-972)aGa>aCa	p.R324T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	324					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCTATTTGCTCTAAACATTGG	0.294000													26	114					0	0	0.024334	0	0
IFNK	56832	broad.mit.edu	37	9	27524569	27524569	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:27524569A>G	ENST00000276943.2	+	1	258	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	79					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CACCCAACCTATGAAGAGGGA	0.423000													32	82					0	0	0.015359	0	0
TRPM3	80036	broad.mit.edu	37	9	73151427	73151427	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr9:73151427G>A	ENST00000377110.2	-	25	4809	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000377106.1_Silent_p.S1394S|TRPM3_ENST00000423814.3_Silent_p.S1549S|TRPM3_ENST00000357533.2_Silent_p.S1526S|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000360823.2_Silent_p.S1384S|TRPM3_ENST00000377111.2_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1547						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						AAAACATAAAGCTATGAGATT	0.458000													59	30					0	0	0.014410	0	0
NSUN4	387338	broad.mit.edu	37	1	46810800	46810800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:46810800C>T	ENST00000474844.1	+	2	1071	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	NSUN4_ENST00000536062.1_Missense_Mutation_p.R92C|NSUN4_ENST00000537428.1_Missense_Mutation_p.R92C|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	141							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGATATCAGTCGCTTCCCTCC	0.567000													16	55					0	0	0.043863	0	0
CLSTN3	9746	broad.mit.edu	37	12	7302138	7302138	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:7302138G>T	ENST00000537408.1	+	13	2668	c.2130G>T	c.(2128-2130)tcG>tcT	p.S710S	CLSTN3_ENST00000266546.6_Silent_p.S698S			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	698					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CACGCATGTCGGATGAGATTG	0.577000													36	54					9.9191e-30	1.17992e-29	0.033182	1	0
PXDNL	137902	broad.mit.edu	37	8	52321226	52321226	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr8:52321226G>A	ENST00000356297.4	-	17	3058	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	PXDNL_ENST00000543296.1_Silent_p.S986S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	986					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTTCAGGGCGGACAGCTCCG	0.642000													4	5					0	0	0.009096	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128284	150128284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:150128284G>T	ENST00000369124.4	+	3	480	c.202G>T	c.(202-204)Gag>Tag	p.E68*	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.E68*|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	68	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATATTCAAGAGGTATTTGA	0.438000													9	236					0.000673444	0.000696402	0.008291	1	0
TMEM194A	23306	broad.mit.edu	37	12	57454716	57454716	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:57454716C>T	ENST00000300128.4	-	8	1016	c.993G>A	c.(991-993)aaG>aaA	p.K331K	TMEM194A_ENST00000379391.3_Silent_p.K258K	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	331						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTTCTGCTCCCTTACACACCT	0.438000													29	76					0	0	0.030593	0	0
SEPT3	55964	broad.mit.edu	37	22	42383247	42383247	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr22:42383247C>T	ENST00000396425.3	+	4	500	c.369C>T	c.(367-369)gtC>gtT	p.V123V	SEPT3_ENST00000396426.3_Silent_p.V123V|SEPT3_ENST00000291236.11_Silent_p.V59V|SEPT3_ENST00000406029.1_Silent_p.V59V|SEPT3_ENST00000328414.8_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	123					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGCTGACCGTCATCGACACCC	0.493000													22	54					0	0	0.018920	0	0
C10orf12	26148	broad.mit.edu	37	10	98742657	98742657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr10:98742657G>A	ENST00000286067.2	+	1	1617	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	504										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGAGGCCTCTGATAGGTGCCT	0.398000													32	62					0	0	0.045705	0	0
CDH20	28316	broad.mit.edu	37	18	59166671	59166671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr18:59166671G>A	ENST00000262717.4	+	3	897	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CDH20_ENST00000538374.1_Missense_Mutation_p.D167N|CDH20_ENST00000536675.2_Missense_Mutation_p.D167N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	167	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D167N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAAGTTCCTGGACGGACCTTA	0.502000													14	42					0	0	0.028581	0	0
FCGBP	8857	broad.mit.edu	37	19	40408592	40408592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr19:40408592C>T	ENST00000221347.6	-	8	4254	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1416	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGAGTTGCCGAACTCATT	0.637000													70	35					0	0	0.014410	0	0
NOTCH2	4853	broad.mit.edu	37	1	120467945	120467945	+	Silent	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:120467945C>T	ENST00000256646.2	-	25	4713	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1498	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGCTGTTCCCCTGGCATT	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				27	466					0	0	0.045705	0	0
C1S	716	broad.mit.edu	37	12	7169971	7169971	+	Silent	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:7169971G>A	ENST00000406697.1	+	6	826	c.198G>A	c.(196-198)gcG>gcA	p.A66A	C1S_ENST00000328916.3_Silent_p.A66A|C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.A66A			P09871	C1S_HUMAN	complement component 1, s subcomponent	66	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGAACTGTGCGTATGACTCAG	0.468000													37	151					0	0	0.023175	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554402	140554402	+	Silent	SNP	G	G	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr5:140554402G>T	ENST00000231137.3	+	1	2160	c.1986G>T	c.(1984-1986)ctG>ctT	p.L662L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		662	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTGCTCCTGGTGGACGGCT	0.701000													15	54					1.33834e-09	1.44986e-09	0.043863	1	0
AKAP6	9472	broad.mit.edu	37	14	33293503	33293503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr14:33293503G>A	ENST00000280979.4	+	13	6654	c.6484G>A	c.(6484-6486)Ggt>Agt	p.G2162S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2162					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGTGTTGAGGGTGACTCTGA	0.478000													30	17					0	0	0.030593	0	0
BARD1	580	broad.mit.edu	37	2	215645436	215645436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr2:215645436T>C	ENST00000260947.4	-	4	1296	c.1162A>G	c.(1162-1164)Att>Gtt	p.I388V	BARD1_ENST00000449967.2_Missense_Mutation_p.I244V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	388					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAAGACTAATGAATTCATCG	0.423000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	114					0	0	0.021553	0	0
OR10A7	121364	broad.mit.edu	37	12	55615608	55615608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:55615608C>T	ENST00000326258.1	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCAAACCAGTCCCCTGAGAGC	0.507000													15	76					0	0	0.028581	0	0
ZNF800	168850	broad.mit.edu	37	7	127014179	127014179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:127014179G>C	ENST00000393313.1	-	5	1802	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S404*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S404*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTTATTTCTGAACTGTTGGC	0.348000													30	64					0	0	0.034045	0	0
KCNA3	3738	broad.mit.edu	37	1	111216794	111216794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr1:111216794delC	ENST00000369769.2	-	1	861	c.638delG	c.(637-639)ccfs	p.R214fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGTCGCGGCGGGGCAAGGG	0.682													38	30	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65173370	65173375	+	RNA	DEL	TCTTTA	TCTTTA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr7:65173370_65173375delTCTTTA	ENST00000430126.2	+	0	1389																											AATTATCTTTTCTTTATCGATTATGG	0.350													9	38	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													6	3	---	---	---	---					
POLA2	23649	broad.mit.edu	37	11	65064593	65064608	+	Frame_Shift_Del	DEL	TGTCCTCGGCTGTGTC	TGTCCTCGGCTGTGTC	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC	ENST00000265465.3	+	18	2181_2196	c.1650_1665delTGTCCTCGGCTGTGTC	c.(1648-1665)gafs	p.DVLGCV550fs	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	550					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC	0.602													14	103	---	---	---	---					
KCNH3	23416	broad.mit.edu	37	12	49950962	49950966	+	Splice_Site	DEL	ACAGA	ACAGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr12:49950962_49950966delACAGA	ENST00000257981.6	+	14	2835_2836	c.2575_splice	c.e14-1	p.859_splice		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	859					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTACTACCCACAGAGAGCGGCCTG	0.595													16	48	---	---	---	---					
SNAPC1	6617	broad.mit.edu	37	14	62233670	62233672	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr14:62233670_62233672delCCA	ENST00000216294.4	+	2	309_311	c.205_207delCCA	c.(205-207)del	p.P69del	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	69	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTTACCTCCATACACCTTCC	0.330													18	33	---	---	---	---					
EFTUD1	79631	broad.mit.edu	37	15	82456255	82456259	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr15:82456255_82456259delAAATG	ENST00000268206.7	-	16	1985_1989	c.1817_1821delCATTT	c.(1816-1821)cfs	p.PF606fs	EFTUD1_ENST00000359445.3_Frame_Shift_Del_p.PF555fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	606					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGTGGTATAAATGGTGGGCAGGA	0.400													14	39	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579336	7579336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:7579336delC	ENST00000420246.2	-	4	483	c.351delG	c.(349-351)ggfs	p.G117fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G117fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	117	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> E (in sporadic cancers; somatic mutation).|G -> R (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.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(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)		ACTTGGCTGTCCCAGAATGCA	0.577		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)			52	25	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340854	39340910	+	In_Frame_Del	DEL	GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	-	rs74712790	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr17:39340854_39340910delGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT	ENST00000398472.1	-	1	684_740	c.197_253delACCCAGTCTGTTGTCAGACCACCTGCCGCCCCAGCTGTGGTGTGTCCAGCTGCTGCC	c.(196-255)cgc>c	p.HPVCCQTTCRPSCGVSSCCR66del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	66	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		H -> R (in dbSNP:rs2320231).			keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGAGTGGGCGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGTGGCAGCAGCT	0.638													7	12	---	---	---	---					
SS18	6760	broad.mit.edu	37	18	23619368	23619369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr18:23619368_23619369insC	ENST00000415083.2	-	6	714_715	c.659_660insG	c.(658-660)gggfs	p.G220fs	SS18_ENST00000542743.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000542420.2_Frame_Shift_Ins_p.G197fs|SS18_ENST00000539849.1_Frame_Shift_Ins_p.G138fs|SS18_ENST00000545952.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000269137.7_Frame_Shift_Ins_p.G220fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	220	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTGTCCGCCTCCCTGTGGCAT	0.426			T	"""SSX1,  SSX2"""	synovial sarcoma								79	42	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28196406	28196418	+	Frame_Shift_Del	DEL	CCCAGTGTGGAAA	CCCAGTGTGGAAA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:28196406_28196418delCCCAGTGTGGAAA	ENST00000302326.4	-	1	1068_1080	c.114_126delTTTCCACACTGGG	c.(112-126)gcfs	p.AFHTG38fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	38							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT	0.634			T	ETV6	"""AML, meningioma"""								12	74	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36698676	36698678	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	8e46f3c1-520c-4518-a734-4579dfcd97a3	g.chr22:36698676_36698678delGGA	ENST00000216181.5	-	20	2665_2667	c.2435_2437delTCC	c.(2434-2439)cag>c	p.LQ812del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	812					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGTTCCGCTGGAGGACCTTCAT	0.611			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				31	48	---	---	---	---					
KCNA3	3738	broad.mit.edu	37	1	111216794	111216794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr1:111216794delC	ENST00000369769.2	-	1	861	c.638delG	c.(637-639)ccfs	p.R214fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGTCGCGGCGGGGCAAGGG	0.682													38	30	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187630671	187630692	+	Frame_Shift_Del	DEL	TTTCCTCCTTTGGTCCTTATTC	TTTCCTCCTTTGGTCCTTATTC	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr4:187630671_187630692delTTTCCTCCTTTGGTCCTTATTC	ENST00000441802.2	-	2	499_520	c.290_311delGAATAAGGACCAAAGGAGGAAA	c.(289-312)atfs	p.RIRTKGGN97fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	97	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGCTGTATTTCCTCCTTTGGTCCTTATTCTTAGAAAGCA	0.405										HNSCC(5;0.00058)			10	26	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65173370	65173375	+	RNA	DEL	TCTTTA	TCTTTA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr7:65173370_65173375delTCTTTA	ENST00000430126.2	+	0	1389																											AATTATCTTTTCTTTATCGATTATGG	0.350													9	38	---	---	---	---					
POLA2	23649	broad.mit.edu	37	11	65064593	65064608	+	Frame_Shift_Del	DEL	TGTCCTCGGCTGTGTC	TGTCCTCGGCTGTGTC	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC	ENST00000265465.3	+	18	2181_2196	c.1650_1665delTGTCCTCGGCTGTGTC	c.(1648-1665)gafs	p.DVLGCV550fs	POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	550					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC	0.602													14	103	---	---	---	---					
KCNH3	23416	broad.mit.edu	37	12	49950962	49950966	+	Splice_Site	DEL	ACAGA	ACAGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr12:49950962_49950966delACAGA	ENST00000257981.6	+	14	2835_2836	c.2575_splice	c.e14-1	p.859_splice		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	859					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTACTACCCACAGAGAGCGGCCTG	0.595													16	48	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													4	7	---	---	---	---					
SNAPC1	6617	broad.mit.edu	37	14	62233670	62233672	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr14:62233670_62233672delCCA	ENST00000216294.4	+	2	309_311	c.205_207delCCA	c.(205-207)del	p.P69del	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	69	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTTACCTCCATACACCTTCC	0.330													18	33	---	---	---	---					
EFTUD1	79631	broad.mit.edu	37	15	82456255	82456259	+	Frame_Shift_Del	DEL	AAATG	AAATG	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr15:82456255_82456259delAAATG	ENST00000268206.7	-	16	1985_1989	c.1817_1821delCATTT	c.(1816-1821)cfs	p.PF606fs	EFTUD1_ENST00000359445.3_Frame_Shift_Del_p.PF555fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	606					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAGTGGTATAAATGGTGGGCAGGA	0.400													14	39	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579336	7579336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr17:7579336delC	ENST00000420246.2	-	4	483	c.351delG	c.(349-351)ggfs	p.G117fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G117fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	117	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> E (in sporadic cancers; somatic mutation).|G -> R (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.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(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)		ACTTGGCTGTCCCAGAATGCA	0.577		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)			52	25	---	---	---	---					
SS18	6760	broad.mit.edu	37	18	23619368	23619369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr18:23619368_23619369insC	ENST00000415083.2	-	6	714_715	c.659_660insG	c.(658-660)gggfs	p.G220fs	SS18_ENST00000269137.7_Frame_Shift_Ins_p.G220fs|SS18_ENST00000542743.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000542420.2_Frame_Shift_Ins_p.G197fs|SS18_ENST00000545952.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000539849.1_Frame_Shift_Ins_p.G138fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	220	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GCTGTCCGCCTCCCTGTGGCAT	0.426			T	"""SSX1,  SSX2"""	synovial sarcoma								79	42	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28196406	28196418	+	Frame_Shift_Del	DEL	CCCAGTGTGGAAA	CCCAGTGTGGAAA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr22:28196406_28196418delCCCAGTGTGGAAA	ENST00000302326.4	-	1	1068_1080	c.114_126delTTTCCACACTGGG	c.(112-126)gcfs	p.AFHTG38fs		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	38							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT	0.634			T	ETV6	"""AML, meningioma"""								12	74	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36698676	36698678	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-7437-01A-21D-2129-08	TCGA-CV-7437-11A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53413980-80cc-4c73-8bb6-31a01d6df86e	d40bb6dd-d5a2-466e-b9fe-03b553c19814	g.chr22:36698676_36698678delGGA	ENST00000216181.5	-	20	2665_2667	c.2435_2437delTCC	c.(2434-2439)cag>c	p.LQ812del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	812					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGTTCCGCTGGAGGACCTTCAT	0.611			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				31	48	---	---	---	---					
