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
MXRA5	25878	broad.mit.edu	37	X	3248147	3248147	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:3248147C>T	ENST00000217939.6	-	4	775	c.621G>A	c.(619-621)ccG>ccA	p.P207P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	207						extracellular region		p.P207P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCAGAAGCGGCATGTTCC	0.453000													6	16					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195484133	195484133	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:195484133C>G	ENST00000463781.3	-	18	15512	c.15053G>C	c.(15052-15054)aGt>aCt	p.S5018T	MUC4_ENST00000349607.4_Missense_Mutation_p.S731T|MUC4_ENST00000475231.1_Missense_Mutation_p.S4966T|MUC4_ENST00000346145.4_Missense_Mutation_p.S782T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1775					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATCTTGGCACTTCTTGCTAG	0.552000													32	55					0	0	1	0	0
ANKRD20A11P	0	broad.mit.edu	37	21	15352091	15352091	+	RNA	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr21:15352091G>A	ENST00000344693.5	-	0	667					NR_027270.1																						TCTCCGCGGCGTCGCCCTTGA	0.667000													6	20					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43896293	43896293	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:43896293C>G	ENST00000562955.1	+	31	4436	c.4436C>G	c.(4435-4437)aCt>aGt	p.T1479S	SZT2_ENST00000372442.1_Missense_Mutation_p.T637S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1536						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACGTAGACACTGTGAATCCT	0.577000													44	81					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225469	152225469	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:152225469G>T	ENST00000447306.1	+	2	393	c.57G>T	c.(55-57)agG>agT	p.R19S	PNMA3_ENST00000370265.4_Missense_Mutation_p.R19S|PNMA3_ENST00000370264.4_Missense_Mutation_p.R19S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	19					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					acacccggaggtgcatgctca	0.577000													38	61					3.3946e-10	3.49543e-10	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98497312	98497312	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:98497312T>C	ENST00000359863.4	+	10	931	c.722T>C	c.(721-723)cTg>cCg	p.L241P	TRRAP_ENST00000355540.3_Missense_Mutation_p.L241P|TRRAP_ENST00000446306.3_Missense_Mutation_p.L241P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTACAAACTGAACATCCAC	0.443000													4	156					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285924	152285924	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:152285924A>G	ENST00000368799.1	-	3	1473	c.1438T>C	c.(1438-1440)Tct>Cct	p.S480P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	480	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)			CCATGGGCAGAGTCAGGCTGT	0.612000									Ichthyosis				84	153					0	0	1	0	0
RGN	9104	broad.mit.edu	37	X	46949264	46949264	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:46949264T>C	ENST00000397180.1	+	5	1405	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	RGN_ENST00000457380.1_Intron|RGN_ENST00000336169.3_Missense_Mutation_p.Y146H|RGN_ENST00000352078.4_Missense_Mutation_p.Y146H	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	146					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGAAAAAGTACTTTGACCA	0.498000													14	85					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140215035	140215035	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:140215035C>G	ENST00000525929.1	+	1	1067	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_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_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S356C|PCDHA5_ENST00000529859.1_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)			ACTTCCCTGTCTCTCCCTATT	0.502000													45	73					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77624229	77624229	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:77624229G>C	ENST00000316249.3	+	1	562	c.562G>C	c.(562-564)Gcc>Ccc	p.A188P		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	188					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)		GTCCTTCGTGGCCGTCACGGC	0.771000													7	14					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591247	+	Splice_Site	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:67591247G>C	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACT	0.363000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			22	47					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33543653	33543653	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:33543653G>A	ENST00000374467.3	-	3	371	c.123C>T	c.(121-123)taC>taT	p.Y41Y	BAK1_ENST00000360661.5_Silent_p.Y41Y|BAK1_ENST00000442998.2_Silent_p.Y41Y	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	41					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCTGATGGCGGTAAAAAACGT	0.597000													3	60					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108577517	108577517	+	Silent	SNP	T	T	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:108577517T>A	ENST00000526794.1	+	10	1307	c.1275T>A	c.(1273-1275)gcT>gcA	p.A425A	DDX10_ENST00000322536.3_Silent_p.A425A			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	425	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAGAAAAAGCTATGGTGCAGC	0.358000			T	NUP98	AML*								81	119					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782245	32782245	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:32782245T>C	ENST00000452392.2	-	14	2489	c.2316A>G	c.(2314-2316)agA>agG	p.R772R	HLA-DOB_ENST00000438763.2_Silent_p.R165R			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TGACCCCAGCTCTCTCCTCCT	0.522000													14	132					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790669	194790669	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:194790669G>A	ENST00000310380.6	-	4	1065	c.957C>T	c.(955-957)gcC>gcT	p.A319A	XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Silent_p.A116A|XXYLT1_ENST00000356740.5_Silent_p.A113A|XXYLT1_ENST00000429994.1_Silent_p.A173A|XXYLT1_ENST00000355729.4_Silent_p.A116A	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	319						integral to membrane	transferase activity, transferring glycosyl groups										GGTACTTGTCGGCCAGCTGCT	0.642000													21	30					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135106174	135106174	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:135106174C>G	ENST00000368563.2	-	8	1399	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G376A|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G348A|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G218A	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	348					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AAGACATTCGCCTTTGTCCAC	0.622000													8	14					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73927216	73927216	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:73927216G>C	ENST00000476977.1	+	3	1871	c.180G>C	c.(178-180)gaG>gaC	p.E60D	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E60D			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	60						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCACGATGAGAGCGCCTTTG	0.607000													15	45					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50320925	50320925	+	Silent	SNP	G	G	A	rs143871729		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:50320925G>A	ENST00000404488.3	+	11	1314	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	CRELD2_ENST00000407217.3_Silent_p.P312P|CRELD2_ENST00000328268.4_Silent_p.P344P|CRELD2_ENST00000403427.3_Silent_p.P316P	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	344						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAAGCCCGACACAGCTGC	0.552000													15	71					0	0	1	0	0
ANAPC11	51529	broad.mit.edu	37	17	79857259	79857259	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:79857259C>G	ENST00000357385.3	+	3	387	c.251C>G	c.(250-252)tCt>tGt	p.S84C	ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000577747.1_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCCTGATGTCTAGGGAAGAG	0.607000													14	21					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:61560492G>A	ENST00000290866.4	+	9	1469	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482H	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552000													7	172					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81518014	81518014	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:81518014G>A	ENST00000394660.2	+	2	634	c.274G>A	c.(274-276)Gat>Aat	p.D92N	IL16_ENST00000302987.4_Missense_Mutation_p.D92N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	92					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCTGGGAATGATCGAGGCAA	0.542000													6	23					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53073597	53073597	+	Missense_Mutation	SNP	C	C	G	rs59044845		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:53073597C>G	ENST00000252244.3	-	1	594	c.536G>C	c.(535-537)cGa>cCa	p.R179P		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCTTTCTCGAGACTTCAC	0.502000													50	86					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912628	101912628	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:101912628C>T	ENST00000537097.1	+	6	4600	c.3787C>T	c.(3787-3789)Cat>Tat	p.H1263Y	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.H1263Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1263	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATGATTAGACATCTCACTAC	0.403000													52	73					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68116926	68116926	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:68116926C>G	ENST00000262215.3	-	35	5337	c.4948G>C	c.(4948-4950)Gct>Cct	p.A1650P	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A488P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1104P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1650					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTGCTGCAGCTAAGTTTTCT	0.433000													36	67					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154091433	154091433	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:154091433A>C	ENST00000360256.4	-	23	6699	c.6499T>G	c.(6499-6501)Tac>Gac	p.Y2167D	F8_ENST00000330287.6_Missense_Mutation_p.Y32D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2167	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACGGATGTATCGAGCAATA	0.408000													31	59					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70339254	70339254	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:70339254G>C	ENST00000333646.6	+	2	330	c.131G>C	c.(130-132)gGt>gCt	p.G44A	MED12_ENST00000374102.1_Missense_Mutation_p.G44A|MED12_ENST00000374080.3_Missense_Mutation_p.G44A	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTAAAACAAGGTTTCAATAAC	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	13					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14866522	14866522	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:14866522T>C	ENST00000315576.3	-	13	1811	c.1360A>G	c.(1360-1362)Agc>Ggc	p.S454G	EMR2_ENST00000353005.1_Missense_Mutation_p.S312G|EMR2_ENST00000594294.1_Missense_Mutation_p.S405G|EMR2_ENST00000595839.1_Missense_Mutation_p.S312G|EMR2_ENST00000346057.1_Missense_Mutation_p.S405G|EMR2_ENST00000596991.2_Missense_Mutation_p.S443G|EMR2_ENST00000601345.1_Missense_Mutation_p.S443G|EMR2_ENST00000392965.3_Missense_Mutation_p.S454G|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Missense_Mutation_p.S361G|EMR2_ENST00000392967.2_Missense_Mutation_p.S443G|EMR2_ENST00000594076.1_Missense_Mutation_p.S361G	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	454					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCGTTGTTGCTCAGAAAGGCA	0.557000													55	78					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132068806	132068806	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:132068806C>G	ENST00000336375.5	+	8	914	c.824C>G	c.(823-825)aCt>aGt	p.T275S	ACPP_ENST00000475741.1_Missense_Mutation_p.T242S|ACPP_ENST00000351273.7_Missense_Mutation_p.T275S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	275						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGAGAGCAACTCAGATACCA	0.348000													24	43					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308000													4	208					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100478923	100478923	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100478923G>A	ENST00000388793.4	+	3	360	c.140G>A	c.(139-141)cGt>cAt	p.R47H	SRRT_ENST00000432932.1_Missense_Mutation_p.R47H|SRRT_ENST00000347433.4_Missense_Mutation_p.R47H|SRRT_ENST00000457580.2_Missense_Mutation_p.R47H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	47	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCGTGGCCGTGAGCGCCGT	0.582000													72	113					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067115	9067115	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:9067115C>G	ENST00000397910.4	-	3	20534	c.20331G>C	c.(20329-20331)atG>atC	p.M6777I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6779	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACAGTGGTCATTTCTGAGT	0.493000													81	102					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75266314	75266314	+	Silent	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:75266314T>G	ENST00000325680.7	+	5	4438	c.4314T>G	c.(4312-4314)tcT>tcG	p.S1438S	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.S1243S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTTAGACTCTGACCAAGGCC	0.483000													46	49					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88374460	88374460	+	Splice_Site	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:88374460G>C	ENST00000392844.3	+	18	1881		c.e18-1		ORC3_ENST00000546266.1_Splice_Site|ORC3_ENST00000257789.4_Splice_Site	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTAATTGTTAGAATGAAGCAC	0.383000													34	43					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582000													3	74					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								35	43					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135310868	135310868	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135310868T>C	ENST00000316077.9	-	11	2020	c.1800A>G	c.(1798-1800)acA>acG	p.T600T	MAP7D3_ENST00000370661.1_Silent_p.T565T|MAP7D3_ENST00000370663.5_Silent_p.T582T|MAP7D3_ENST00000495432.1_5'UTR	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	600						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCAAAATTTTTGTTGCCGCCT	0.408000													30	108					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953433	38953433	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:38953433G>A	ENST00000306658.7	-	4	856	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	264	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCGTACTCCGCTCGCATGTT	0.637000													14	61					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74692199	74692199	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:74692199C>T	ENST00000334011.5	+	9	1773	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	519						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCGAATGCGTCGTGGGGCAGG	0.612000													9	76					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846263	123846263	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:123846263C>T	ENST00000369005.1	+	4	4588	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	TACC2_ENST00000453444.2_Silent_p.F1416F|TACC2_ENST00000515273.1_Silent_p.F1416F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.F1416F|TACC2_ENST00000515603.1_Silent_p.F1416F|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1416						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAAGATCTTCGAGAAGCCTG	0.592000													3	48					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405259	135405259	+	Silent	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135405259C>A	ENST00000394143.1	+	5	684	c.393C>A	c.(391-393)ggC>ggA	p.G131G	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.G131G|GPR112_ENST00000287534.4_Silent_p.G68G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	131					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTGAAGGGCAAATTAGAAC	0.428000													49	80					2.24722e-20	2.36072e-20	1	1	0
FAT1	2195	broad.mit.edu	37	4	187542106	187542106	+	Silent	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:187542106C>A	ENST00000441802.2	-	10	5843	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1878	Cadherin 16.				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						GCTTGGCAAACACAGGGGGGC	0.408000										HNSCC(5;0.00058)			4	42					0.150653	0.152116	1	1	0
CDH24	64403	broad.mit.edu	37	14	23517549	23517549	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:23517549G>C	ENST00000397359.3	-	13	2359	c.2100C>G	c.(2098-2100)atC>atG	p.I700M	CDH24_ENST00000554034.1_Missense_Mutation_p.I662M|CDH24_ENST00000267383.5_Missense_Mutation_p.I700M|CDH24_ENST00000487137.2_Missense_Mutation_p.I662M|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	700					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCAAGGCCGTGATGTCGAAGG	0.711000													47	65					0	0	1	0	0
MIR519A1	0	broad.mit.edu	37	19	54255706	54255706	+	RNA	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:54255706G>C	ENST00000385257.1	+	0	56					NR_030218.1																						AGAAAGGAAAGTGCATCCTTT	0.413000													52	32					0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705641	62705641	+	Silent	SNP	C	C	T	rs140669717		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr20:62705641C>T	ENST00000395042.1	-	5	584	c.318G>A	c.(316-318)gcG>gcA	p.A106A	RGS19_ENST00000332298.5_Silent_p.A106A	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	106	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCCGCAGGAACGCCCGGAACA	0.622000													4	34					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10795094	10795094	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:10795094G>C	ENST00000407004.3	+	18	2324	c.2074G>C	c.(2074-2076)Gac>Cac	p.D692H	ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000592763.1_3'UTR|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000449870.1_Intron|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000589998.1_Missense_Mutation_p.D688H|ILF3_ENST00000250241.8_Intron	NM_001137673.1	NP_001131145.1	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	688	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTTTGTAGGTGACTTTTTCAC	0.388000													48	92					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248757066	248757066	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:248757066G>A	ENST00000330500.2	-	1	34	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGCCAGCCGCATGCTGTAT	0.453000													8	71					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		CAAACACGCACCTCAAAGCTG	0.527000		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)			18	16					0	0	1	0	0
TSIX	0	broad.mit.edu	37	X	73041569	73041569	+	RNA	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:73041569A>G	ENST00000604411.1	+	0	29530				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAGCCCAGCCAGGCCTACATT	0.358000													4	11					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	32					0	0	1	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65847277	65847277	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:65847277C>T	ENST00000261875.5	+	3	349	c.183C>T	c.(181-183)ttC>ttT	p.F61F	PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.F99F|PTPLAD1_ENST00000442729.2_Silent_p.F61F|PTPLAD1_ENST00000568793.1_Silent_p.F36F|PTPLAD1_ENST00000569894.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	61	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						ACCTGGAGTTCTTAGACCTTG	0.423000													40	79					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205126503	205126503	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:205126503G>A	ENST00000367162.3	-	10	2280	c.2250C>T	c.(2248-2250)acC>acT	p.T750T	DSTYK_ENST00000367161.3_Silent_p.T750T|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	750	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGTCTCCAGGGTCAGCCCAG	0.483000													7	53					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057967	158057967	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:158057967C>G	ENST00000264428.4	+	6	809	c.539C>G	c.(538-540)aCt>aGt	p.T180S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.T180S|GLRB_ENST00000541722.1_Missense_Mutation_p.T180S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	180					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTATCTATTACTCTTTCATGC	0.343000													23	41					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135485410	135485410	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135485410G>A	ENST00000394143.1	+	22	8874	c.8583G>A	c.(8581-8583)ccG>ccA	p.P2861P	GPR112_ENST00000412101.1_Silent_p.P2656P|GPR112_ENST00000394141.1_Silent_p.P2656P|GPR112_ENST00000370652.1_Silent_p.P2861P|GPR112_ENST00000287534.4_Silent_p.P2614P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2861					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGAATCCCGGCTATCATGG	0.458000													21	29					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110837743	110837743	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:110837743T>C	ENST00000485303.1	+	3	1018	c.743T>C	c.(742-744)gTa>gCa	p.V248A	PVRL3_ENST00000493615.1_Missense_Mutation_p.V225A|PVRL3_ENST00000319792.3_Missense_Mutation_p.V248A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	248	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACTTGTGTTGTAAAACATCCA	0.363000													13	79					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56155250	56155250	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:56155250C>G	ENST00000508342.1	-	5	2091	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	NEDD4_ENST00000435532.3_Missense_Mutation_p.D179H|NEDD4_ENST00000338963.2_Missense_Mutation_p.D526H|NEDD4_ENST00000506154.1_Intron			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	598	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAGCAGCATCTGGTTGGTCC	0.423000													17	26					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438000													79	118					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76813056	76813056	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:76813056C>G	ENST00000373344.5	-	30	6779	c.6565G>C	c.(6565-6567)Gtt>Ctt	p.V2189L	ATRX_ENST00000395603.3_Missense_Mutation_p.V2151L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2189	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGATCAACAACTCGAAAAGAC	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						76	95					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483080	15483080	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:15483080G>C	ENST00000269701.2	-	6	1000	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	314					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGGTGTCTGGCTCCTCGTAA	0.572000													21	22					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95556899	95556899	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:95556899T>A	ENST00000371418.4	+	8	1273	c.1013T>A	c.(1012-1014)tTc>tAc	p.F338Y	LGI1_ENST00000542308.1_Missense_Mutation_p.F290Y|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	338					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTGAAACATTCAAGATTGAA	0.353000													22	42					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190127816	190127816	+	Silent	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:190127816A>C	ENST00000264734.2	+	5	1157	c.909A>C	c.(907-909)acA>acC	p.T303T		NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	303					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTAGACACAAGGGTGTAAA	0.423000													29	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	28					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31508266	31508266	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:31508266T>C	ENST00000417556.2	-	2	674	c.44A>G	c.(43-45)gAt>gGt	p.D15G	DDX39B_ENST00000458640.1_Missense_Mutation_p.D15G|DDX39B_ENST00000453105.2_Missense_Mutation_p.M11V|DDX39B_ENST00000449074.2_Missense_Mutation_p.D15G|DDX39B_ENST00000396172.1_Missense_Mutation_p.D15G|DDX39B_ENST00000376177.2_Missense_Mutation_p.D15G|DDX39B_ENST00000415382.2_Missense_Mutation_p.M11V|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	15					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACCTCATCATCTTCATAGTC	0.557000													8	80					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390202	89390202	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:89390202T>C	ENST00000336596.2	+	4	1176	c.951T>C	c.(949-951)ccT>ccC	p.P317P	EPHA3_ENST00000452448.2_Silent_p.P317P|EPHA3_ENST00000494014.1_Silent_p.P317P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	317	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAAAGACCCTCCATCCATGG	0.433000										TSP Lung(6;0.00050)			64	80					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10296215	10296215	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10296215C>T	ENST00000403437.2	-	37	5490	c.5396G>A	c.(5395-5397)cGt>cAt	p.R1799H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1799					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCATCTAGACGATGCTGCAG	0.577000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				4	171					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70509663	70509663	+	Silent	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:70509663T>G	ENST00000035383.5	+	20	3912	c.3882T>G	c.(3880-3882)gtT>gtG	p.V1294V	LRRC7_ENST00000415775.2_Silent_p.V578V|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1294						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAATACAGTTAACCTTGGCA	0.388000													30	43					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126402777	126402777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126402777C>T	ENST00000394329.3	+	15	12713	c.12700C>T	c.(12700-12702)Cga>Tga	p.R4234*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2475*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4234	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAAAGCTTACGAGGTGCCAT	0.443000													11	87					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:165970412G>C	ENST00000360093.3	-	20	4074	c.3583C>G	c.(3583-3585)Ctt>Gtt	p.L1195V	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146V|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343000													66	81					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66446947	66446947	+	Silent	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:66446947C>G	ENST00000262139.5	-	3	254	c.255G>C	c.(253-255)gtG>gtC	p.V85V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.V3V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	85					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGAAGTGATACACGTTCATCT	0.512000													62	84					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33283593	33283593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283593G>T	ENST00000269195.5	+	10	1622	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.E447*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	507	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCAACTCTGGGAGTATGACCC	0.368000													36	62					5.71845e-15	5.94719e-15	1	1	0
RTDR1	27156	broad.mit.edu	37	22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	267							binding	p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632000													4	96					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													4	104					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135591290	135591290	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135591290G>C	ENST00000535601.1	+	8	1297	c.875G>C	c.(874-876)cGa>cCa	p.R292P	HTATSF1_ENST00000218364.4_Missense_Mutation_p.R292P	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	292	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAGACCTTCGAGTAGAGTGT	0.388000													13	104					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486331	94486331	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTAGAGCTGCGGCGGGGGCA	0.677000													11	36					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103058176	103058176	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:103058176C>T	ENST00000375735.2	+	43	7145	c.7001C>T	c.(7000-7002)aCt>aTt	p.T2334I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2334I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2334	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGAGCCAGACTTGCATGGTA	0.418000													49	81					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634491	121634491	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:121634491C>G	ENST00000489711.1	+	7	1036	c.648C>G	c.(646-648)tgC>tgG	p.C216W	SLC15A2_ENST00000295605.2_Missense_Mutation_p.C185W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	216					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAGAAGACTGCTATGCATTGG	0.398000													53	105					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45199936	45199936	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:45199936C>T	ENST00000066544.3	-	18	2359	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	CDC27_ENST00000527547.1_Missense_Mutation_p.A755T|CDC27_ENST00000531206.1_Missense_Mutation_p.A762T|CDC27_ENST00000446365.2_Missense_Mutation_p.A695T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	756					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCATCAGGGCGAGGTGCGTT	0.358000													30	68					0	0	1	0	0
SMURF2P1	0	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs144598799	by1000genomes	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:28935540G>A	ENST00000578265.1	+	0	193																											CGTTGTGTTCGTCTTTTTCCA	0.363000													4	39					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966618	41966618	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:41966618G>C	ENST00000298919.7	+	10	1645	c.1257G>C	c.(1255-1257)gaG>gaC	p.E419D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E679D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	679	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGAGCTTGAGTGTCAGAATA	0.448000													24	38					0	0	1	0	0
ZWINT	0	broad.mit.edu	37	10	58118576	58118576	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:58118576T>G	ENST00000373944.3	-	6	651	c.613A>C	c.(613-615)Aag>Cag	p.K205Q	ZWINT_ENST00000395405.1_Missense_Mutation_p.K205Q|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85Q			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCTGCAGCTTGTCCCGCTCC	0.522000													17	91					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86115377	86115377	+	Silent	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:86115377A>G	ENST00000418930.2	+	3	589	c.393A>G	c.(391-393)agA>agG	p.R131R	E2F5_ENST00000416274.2_Silent_p.R131R|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.R131R			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	131	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATAGATTAAGATATCTTAAAG	0.343000													8	12					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100475	8100475	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:8100475T>C	ENST00000379328.3	+	3	1017	c.449T>C	c.(448-450)cTc>cCc	p.L150P	GATA3_ENST00000346208.3_Missense_Mutation_p.L150P|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	150					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCCGCACCTCTTCACCTTC	0.721000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						13	30					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33283583	33283583	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283583C>G	ENST00000269195.5	+	10	1612	c.1509C>G	c.(1507-1509)aaC>aaG	p.N503K	GALNT1_ENST00000537549.1_Missense_Mutation_p.N443K	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	503	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N503N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAAGGCAACCAACTCTGGG	0.373000													37	66					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10631921	10631921	+	Silent	SNP	C	C	T	rs61731468	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr16:10631921C>T	ENST00000359543.3	-	4	389	c.180G>A	c.(178-180)acG>acA	p.T60T	EMP2_ENST00000536829.1_Silent_p.T60T	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation	integral to membrane		p.T60T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCGCCTGCAGCGTGGAGTACT	0.622000													4	93					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102379	22102379	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:22102379T>C	ENST00000542433.1	-	1	717	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACCCTGACGTCCACAAAGGT	0.522000													22	22					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817371	69817371	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:69817371C>A	ENST00000251566.4	-	1	138	c.108G>T	c.(106-108)tgG>tgT	p.W36C		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	36						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACATTAAGCCAATGGCTCA	0.473000													14	75					0.000308642	0.000314694	1	1	0
MYH1	4619	broad.mit.edu	37	17	10411733	10411733	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10411733G>A	ENST00000226207.5	-	16	1938	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	615	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATTGCAGACTTCTGGTA	0.458000													26	139					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526454	23526454	+	Silent	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:23526454A>G	ENST00000296682.3	+	11	1439	c.1257A>G	c.(1255-1257)ccA>ccG	p.P419P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	419					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCCAGGACCATCTGCAAGAA	0.478000										HNSCC(3;0.000094)			28	51					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35873813	35873813	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:35873813A>C	ENST00000216797.5	-	1	139	c.38T>G	c.(37-39)aTg>aGg	p.M13R	NFKBIA_ENST00000557140.1_Missense_Mutation_p.M13R|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	13					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGGGCCCTCCATGGCCCACTC	0.716000													6	5					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178097223	178097223	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:178097223G>C	ENST00000397062.3	-	4	1045	c.491C>G	c.(490-492)tCa>tGa	p.S164*	NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S141*|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S148*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	164					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			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)			AGTTTCAGGTGACTGAGCCTG	0.448000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			31	15					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369874	126369874	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126369874G>C	ENST00000394329.3	+	9	7716	c.7703G>C	c.(7702-7704)aGa>aCa	p.R2568T	FAT4_ENST00000335110.5_Missense_Mutation_p.R866T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2568	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTAAAGTGAGAGCCAAAGAA	0.413000													19	42					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138657690	138657690	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:138657690C>G	ENST00000394800.2	+	14	2255	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MATR3_ENST00000510056.1_Missense_Mutation_p.S569C|MATR3_ENST00000509990.1_Missense_Mutation_p.S569C|MATR3_ENST00000502929.1_Missense_Mutation_p.S569C|MATR3_ENST00000503811.1_Missense_Mutation_p.S281C|MATR3_ENST00000502499.1_Missense_Mutation_p.S231C|MATR3_ENST00000394805.3_Missense_Mutation_p.S569C|MATR3_ENST00000361059.2_Missense_Mutation_p.S569C|MATR3_ENST00000504203.1_Missense_Mutation_p.S231C			P43243	MATR3_HUMAN	matrin 3	569	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGACCTGTCTGAGAAATAT	0.348000													33	55					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599060	62599060	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:62599060A>G	ENST00000512091.1	+	7	1730	c.983A>G	c.(982-984)gAg>gGg	p.E328G	LPHN3_ENST00000506746.1_Missense_Mutation_p.E396G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E396G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514591.1_Missense_Mutation_p.E328G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E328G|LPHN3_ENST00000545650.1_Missense_Mutation_p.E328G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E328G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E396G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E328G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E396G|LPHN3_ENST00000511324.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E328G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	328	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGTATATGAGGATGATGAC	0.388000													4	34					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11507489	11507489	+	Splice_Site	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:11507489C>G	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Splice_Site	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438000													67	196					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157768008	157768008	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:157768008C>G	ENST00000358292.3	-	7	991	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.E353Q|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353Q	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	353						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGTGAACTCTTGGGGTAGA	0.493000													8	29					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180038441	180038441	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:180038441C>G	ENST00000261937.6	-	27	3654	c.3576G>C	c.(3574-3576)caG>caC	p.Q1192H	FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192H|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCTGAGCTCTGAGAGCTGC	0.672000													40	18					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	735479	735479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:735479delC	ENST00000280886.6	-	1	127	c.40delG	c.(40-42)agfs	p.E14fs		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	14						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCCGCACCTCCAGGGGCAGC	0.791													2	4	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs75456529		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)ttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													8	236	---	---	---	---					
