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
VTA1	51534	broad.mit.edu	37	6	142519629	142519629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:142519629C>G	ENST00000367630.4	+	6	632	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	VTA1_ENST00000452973.2_Missense_Mutation_p.Q134E|VTA1_ENST00000367621.1_Missense_Mutation_p.Q134E|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	192					cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCAGCCAACTCAGCCATCATC	0.438000													5	46					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925381	118925381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:118925381G>A	ENST00000404233.3	-	7	627	c.503C>T	c.(502-504)cCc>cTc	p.P168L	HYOU1_ENST00000543287.1_Missense_Mutation_p.P81L|HYOU1_ENST00000525859.1_Missense_Mutation_p.P168L|HYOU1_ENST00000529972.1_Missense_Mutation_p.P168L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	168						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATCCTTGATGGGCTGCTCTAC	0.537000													6	32					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69645276	69645276	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:69645276G>C	ENST00000453994.2	+	3	539	c.178G>C	c.(178-180)Gtc>Ctc	p.V60L	GDPD2_ENST00000374382.3_Missense_Mutation_p.V60L|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_5'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	60					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CATCGGGCTCGTCCTTCTCAA	0.572000													7	51					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111025198	111025198	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:111025198C>G	ENST00000262839.2	-	8	2983	c.2065G>C	c.(2065-2067)Ggt>Cgt	p.G689R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	689					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCCGTCTACCGTCAGGGTCT	0.433000													21	56					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1249181	1249181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:1249181C>G	ENST00000540437.1	-	11	1361	c.906G>C	c.(904-906)caG>caC	p.Q302H	CPSF3L_ENST00000450926.2_Missense_Mutation_p.Q274H|CPSF3L_ENST00000411962.1_Missense_Mutation_p.Q198H|CPSF3L_ENST00000421495.2_Missense_Mutation_p.Q38H|CPSF3L_ENST00000419704.1_Missense_Mutation_p.Q195H|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.Q267H|CPSF3L_ENST00000435064.1_Missense_Mutation_p.Q296H	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	296						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ACATGTTCCTCTGCACGAAAG	0.577000													4	79					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47324805	47324805	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr20:47324805C>A	ENST00000396220.1	-	6	798	c.776G>T	c.(775-777)gGc>gTc	p.G259V	PREX1_ENST00000371941.3_Missense_Mutation_p.G259V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	259					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CACCTCCCAGCCTTCGATGTG	0.622000													10	101					0.000673444	0.00072732	1	1	0
RERG	85004	broad.mit.edu	37	12	15262141	15262141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:15262141C>T	ENST00000256953.2	-	5	839	c.503G>A	c.(502-504)cGt>cAt	p.R168H	RERG_ENST00000546331.1_Missense_Mutation_p.R149H|RERG_ENST00000536465.1_Missense_Mutation_p.R168H|RERG_ENST00000538313.1_Missense_Mutation_p.R168H	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	168	Poly-Arg.				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTCCGGCGACGCACCTCTCG	0.517000													21	119					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875459	46875459	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr21:46875459C>T	ENST00000359759.4	+	1	36	c.15C>T	c.(13-15)ccC>ccT	p.P5P	COL18A1_ENST00000355480.5_Silent_p.P5P|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	5					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCTACCCCTGTGGCTGCC	0.672000													5	47					0	0	1	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17363155	17363155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr10:17363155G>C	ENST00000377602.4	-	8	993	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	307					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AAAAGGGCCAGATCTTTCAGG	0.453000													12	250					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366587	40366587	+	Silent	SNP	A	A	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:40366587A>G	ENST00000406785.1	-	7	2580	c.2391T>C	c.(2389-2391)gaT>gaC	p.D797D	SLC8A1_ENST00000542756.1_Silent_p.D828D|SLC8A1_ENST00000402441.1_Silent_p.D797D|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.D833D|SLC8A1_ENST00000408028.2_Silent_p.D825D|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.D828D|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.D797D|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.D833D|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.D797D|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.D797D|SLC8A1-AS1_ENST00000435515.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGTCACAGAATCTTTCAGGC	0.483000													8	31					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806449	115806449	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:115806449T>C	ENST00000374227.3	-	4	476	c.449A>G	c.(448-450)aAt>aGt	p.N150S	ZFP37_ENST00000553380.1_Missense_Mutation_p.N165S|ZFP37_ENST00000555206.1_Missense_Mutation_p.N151S			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTCACTGCCATTCTTCTTAGC	0.358000													10	81					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57006251	57006251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:57006251G>A	ENST00000370706.4	+	8	1098	c.854G>A	c.(853-855)gGt>gAt	p.G285D	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.G285D|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCAAACTGGGTGGTATGTTA	0.348000													9	30					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293766	62293766	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:62293766G>C	ENST00000378024.4	-	5	8397	c.8123C>G	c.(8122-8124)tCc>tGc	p.S2708C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2708					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGCATGGAGATCTTGGG	0.463000													7	204					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570695	198570695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:198570695C>T	ENST00000282276.6	+	1	609	c.566C>T	c.(565-567)tCg>tTg	p.S189L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	189					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCGGGCCCATCGGGGGATTCG	0.577000													10	88					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887443	23887443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:23887443C>A	ENST00000355349.3	-	30	4307	c.4145G>T	c.(4144-4146)cGg>cTg	p.R1382L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1382			R -> W (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTCAGTCCGCTGAATGGC	0.637000													12	79					0.00010058	0.000109724	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167068252	167068252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:167068252G>A	ENST00000392766.2	-	9	824	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	ZBBX_ENST00000392767.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.H133Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.H162Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.H162Y|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	162						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCTTTCTGGTGAACTTTAGCA	0.308000													8	145					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841840	20841840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:20841840C>T	ENST00000262715.5	-	45	6641	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TEP1_ENST00000545983.1_Missense_Mutation_p.A539T|TEP1_ENST00000556935.1_Missense_Mutation_p.A2093T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2201					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTACCTGCACGGGGCTCC	0.567000													3	40					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36633596	36633596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:36633596G>A	ENST00000246533.3	+	4	884	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CAPNS1_ENST00000588780.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E96K|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E96K	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	96	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAACGAGAGTGAGGAGGTCCG	0.627000													5	113					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5254314	5254314	+	Silent	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:5254314G>T	ENST00000380299.3	-	3	538	c.324C>A	c.(322-324)ggC>ggA	p.G108G	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	108					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACATTGCCCAAGAGCT	0.502000													4	46					0.00909568	0.00935556	1	1	0
KRT40	125115	broad.mit.edu	37	17	39137270	39137270	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:39137270C>G	ENST00000377755.4	-	4	855	c.821G>C	c.(820-822)aGa>aCa	p.R274T	KRT40_ENST00000398486.2_Missense_Mutation_p.R274T			Q6A162	K1C40_HUMAN	keratin 40	274	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTTCTCTGCGATTGTT	0.502000													9	192					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47607877	47607877	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:47607877G>A	ENST00000371891.3	+	4	511	c.480G>A	c.(478-480)ggG>ggA	p.G160G	CYP4A22_ENST00000294337.3_Silent_p.G160G|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.G160G|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	160						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATACGTGGGGCTCATGGCAG	0.557000													8	38					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12780853	12780853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:12780853C>T	ENST00000418543.3	+	4	515	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.R56W	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	56					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GAACCCGCTTCGGGGGACGCT	0.677000													5	91					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230868	147230868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:147230868C>T	ENST00000271348.2	-	2	640	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJA5_ENST00000369237.1_Missense_Mutation_p.R160H	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	160					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGGTGGTGCGGATCAGGAT	0.587000													14	68					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:178416956G>A	ENST00000408939.2	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542000													5	136					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38032593	38032593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:38032593G>A	ENST00000373062.3	-	16	2157	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	687					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CGTTGCTGTCGTACTGCTCGC	0.418000													6	65					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831910	36831910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:36831910C>G	ENST00000270001.7	-	5	933	c.818G>C	c.(817-819)cGa>cCa	p.R273P		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTCTGATGTCGAGCCAGTTG	0.433000													4	76					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270924	22270924	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:22270924G>C	ENST00000594947.1	+	4	516	c.372G>C	c.(370-372)aaG>aaC	p.K124N	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAGTGTAAGGTGTGCAAAG	0.308000													8	40					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1582344	1582344	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:1582344G>A	ENST00000572621.1	-	10	1831	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	PRPF8_ENST00000304992.6_Silent_p.F522F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	522						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTGAGGTTGAAGTTGTAGT	0.547000													7	122					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132531	126132531	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:126132531G>T	ENST00000373631.3	+	7	1200	c.1199G>T	c.(1198-1200)tGc>tTc	p.C400F	CRB2_ENST00000359999.3_Missense_Mutation_p.C400F|CRB2_ENST00000373629.2_Missense_Mutation_p.C68F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	400	EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTCACTGGCTGCCAGGGCCAC	0.642000													4	40					1	1	1	1	0
RGAG4	340526	broad.mit.edu	37	X	71350365	71350365	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:71350365C>G	ENST00000545866.1	-	1	1393	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.E342D			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	342										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CACTGTAGTACTCTTCATCTT	0.507000													9	28					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460339	150460339	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:150460339G>C	ENST00000312960.3	-	2	1091	c.564C>G	c.(562-564)ctC>ctG	p.L188L		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	188	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGCGTGCATGAGATGGGACA	0.532000													13	90					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143691330	143691330	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr3:143691330C>T	ENST00000315691.3	+	1	691	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	52						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTGCAGCTCAATAAGTGCC	0.677000													3	37					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361281	70361281	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:70361281A>G	ENST00000305107.6	-	1	345	c.299T>C	c.(298-300)cTt>cCt	p.L100P	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L100P	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	100					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCTTTTGGAAGTTCTGCCCA	0.323000													4	27					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41045928	41045928	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:41045928T>G	ENST00000399564.4	-	18	2206	c.1756A>C	c.(1756-1758)Agt>Cgt	p.S586R	MROH2B_ENST00000506092.2_Missense_Mutation_p.S141R	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCCACATCACTGATCTTCCAT	0.418000													13	109					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2604761	2604761	+	Silent	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:2604761C>A	ENST00000570628.1	-	6	789	c.684G>T	c.(682-684)ggG>ggT	p.G228G	CLUH_ENST00000575014.1_Silent_p.G160G|CLUH_ENST00000435359.1_Silent_p.G228G|CLUH_ENST00000538975.1_Silent_p.G228G					clustered mitochondria (cluA/CLU1) homolog																		TCTTCCGGTTCCCCGGGGGCG	0.632000													3	19					0.004672	0.00485169	1	1	0
FRS3	10817	broad.mit.edu	37	6	41738930	41738930	+	Silent	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:41738930C>G	ENST00000373018.3	-	7	1157	c.906G>C	c.(904-906)ctG>ctC	p.L302L	FRS3_ENST00000259748.2_Silent_p.L302L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	302					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCTGGGCTCAGTCTCCAGC	0.647000													3	36					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433000													8	81					0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15068572	15068572	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:15068572T>A	ENST00000266397.2	-	6	1198	c.625A>T	c.(625-627)Ata>Tta	p.I209L	ERP27_ENST00000540097.1_Missense_Mutation_p.I108L	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	209						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						AAAAATGATATCACCTTCCCA	0.433000													9	46					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30622988	30622988	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:30622988G>C	ENST00000376442.3	-	18	2982	c.2787C>G	c.(2785-2787)ctC>ctG	p.L929L	DHX16_ENST00000376437.5_Silent_p.L448L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	929					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGCAGGAACTGAGACCAACTT	0.557000													5	97					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357060	13357060	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:13357060A>T	ENST00000276297.4	-	2	930	c.521T>A	c.(520-522)cTg>cAg	p.L174Q	DLC1_ENST00000316609.5_Missense_Mutation_p.L174Q|DLC1_ENST00000511869.1_Missense_Mutation_p.L174Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	174					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCTTTTACCAGTGCTAATTC	0.403000													8	155					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109181855	109181855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:109181855C>T	ENST00000326495.5	-	15	3152	c.3059G>A	c.(3058-3060)gGa>gAa	p.G1020E	SSH1_ENST00000360239.3_Missense_Mutation_p.G708E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1020	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCGGGGTTCCCTGGGGCTC	0.567000													11	133					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119025526	119025526	+	Missense_Mutation	SNP	C	C	T	rs151176056	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr11:119025526C>T	ENST00000307417.3	+	6	951	c.587C>T	c.(586-588)aCg>aTg	p.T196M	ABCG4_ENST00000449422.2_Missense_Mutation_p.T196M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T196M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	196	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCTCCCACACGAGGACAGCC	0.642000													5	124					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32622536	32622536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:32622536C>G	ENST00000373625.3	+	3	314	c.221C>G	c.(220-222)tCt>tGt	p.S74C	KPNA6_ENST00000545542.1_Missense_Mutation_p.S79C|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.S71C	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	74					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TATGTGAGCTCTACCACTGGG	0.468000													4	62					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150847313	150847313	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:150847313G>C	ENST00000243389.3	+	7	773	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	SLC36A1_ENST00000521925.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000520701.1_Missense_Mutation_p.E184Q|SLC36A1_ENST00000429484.2_Missense_Mutation_p.E184Q	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	184					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCACAACAATGAGACGGTGAT	0.532000													6	97					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53004410	53004410	+	Silent	SNP	G	G	A	rs149745115	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:53004410G>A	ENST00000305748.3	-	7	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	440	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCGCCCTCCAGCA	0.617000													4	50					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582764	228582764	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:228582764T>C	ENST00000493030.2	-	5	4383	c.674A>G	c.(673-675)gAc>gGc	p.D225G	TRIM11_ENST00000284551.6_Missense_Mutation_p.D350G|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	350					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTGGTGCGGTCCCCAACCTC	0.687000													5	50					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16245988	16245988	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:16245988C>G	ENST00000375759.3	+	8	1815	c.1611C>G	c.(1609-1611)ttC>ttG	p.F537L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	537	RRM 4.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACGACATTTCTGCCGATATG	0.453000													5	96					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2257314	2257314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:2257314G>A	ENST00000569417.1	+	6	895	c.541G>A	c.(541-543)Gac>Aac	p.D181N	MLST8_ENST00000382450.4_Missense_Mutation_p.D180N|MLST8_ENST00000565250.1_Missense_Mutation_p.D181N|MLST8_ENST00000301725.7_Missense_Mutation_p.D200N|MLST8_ENST00000397124.1_Missense_Mutation_p.D181N|MLST8_ENST00000301724.10_Missense_Mutation_p.D181N|MLST8_ENST00000564088.1_Missense_Mutation_p.D181N|MLST8_ENST00000561651.1_3'UTR	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	181					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CATCGATCCCGACGCCAGCTA	0.627000													12	121					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24836656	24836656	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr22:24836656C>T	ENST00000337539.7	+	3	897	c.438C>T	c.(436-438)tgC>tgT	p.C146C	ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	146					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGAACAACTGCGGTCAGCCAA	0.587000													74	208					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33592888	33592888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:33592888T>C	ENST00000299977.4	+	5	2805	c.2657T>C	c.(2656-2658)aTt>aCt	p.I886T	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	886					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CATCTGTATATTCTGAAGGCT	0.423000													9	57					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107556779	107556779	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr9:107556779T>C	ENST00000374736.3	-	40	5789	c.5395A>G	c.(5395-5397)Atc>Gtc	p.I1799V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1799					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATATCATTGATATTATTCAGC	0.418000													4	39					0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629196	113629196	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:113629196G>A	ENST00000548278.1	+	4	1076	c.384G>A	c.(382-384)cgG>cgA	p.R128R	C12orf52_ENST00000552495.1_Silent_p.R152R|C12orf52_ENST00000549621.1_Silent_p.R128R|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	128	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGGCCCCGCGGATGGCGAAGG	0.642000													3	38					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215914477	215914477	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:215914477G>C	ENST00000272895.7	-	6	785	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	189					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AATGTATCCTGAATAGCTGTC	0.338000													3	31					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789838	7789838	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:7789838G>C	ENST00000338316.4	+	20	2642	c.2553G>C	c.(2551-2553)ctG>ctC	p.L851L	ADCY2_ENST00000537121.1_Silent_p.L671L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	851					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGAGAACCTGAACCGCGTGC	0.527000													4	54					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3586202	3586202	+	Silent	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:3586202C>G	ENST00000576634.1	+	12	1317	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	CLUAP1_ENST00000572600.1_Silent_p.L225L|CLUAP1_ENST00000341633.5_Silent_p.L410L|CLUAP1_ENST00000445795.2_Silent_p.L169L|CLUAP1_ENST00000571025.1_3'UTR|CLUAP1_ENST00000417763.2_Silent_p.L225L	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	391						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCATTTCTCTCTCACCAACCA	0.478000													5	54					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:23898464C>T	ENST00000355349.3	-	13	1393	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin head-like.		V -> I (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCTTGGTGACGTACTCATTG	0.567000													8	122					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815483	82815483	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:82815483C>G	ENST00000265077.3	+	7	1923	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.S405*|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Nonsense_Mutation_p.S453*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	453	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTAGACATATCAGAAATTAAG	0.463000													9	79					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442835	39442835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:39442835G>T	ENST00000265707.5	+	2	141	c.96G>T	c.(94-96)aaG>aaT	p.K32N	ADAM18_ENST00000379866.1_Missense_Mutation_p.K32N|ADAM18_ENST00000520772.1_Missense_Mutation_p.K32N|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	32					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTCCACGGAAGATTAAGTCAA	0.328000													5	45					1.23904e-05	1.36547e-05	1	1	0
USP53	54532	broad.mit.edu	37	4	120190941	120190941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:120190941C>T	ENST00000450251.1	+	11	1928	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	USP53_ENST00000274030.6_Nonsense_Mutation_p.Q462*			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	462					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTTTCTTCACAAAGGAAAGA	0.318000													10	70					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98636133	98636133	+	Silent	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr7:98636133C>A	ENST00000361125.1	-	15	1963	c.1644G>T	c.(1642-1644)acG>acT	p.T548T	SMURF1_ENST00000361368.2_Silent_p.T522T|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	548	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCAGTACAGGCGTGATGTCGT	0.522000													3	39					0.004672	0.00485169	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109383938	109383938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:109383938C>G	ENST00000283195.6	+	20	7069	c.6943C>G	c.(6943-6945)Cct>Gct	p.P2315A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2315	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGTTGTTCCTTTACCTGA	0.398000													6	192					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69456945	69456945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:69456945C>G	ENST00000374521.3	+	4	348	c.307C>G	c.(307-309)Cac>Gac	p.H103D	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	103					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CATGGGGGTTCACCCCCATGG	0.552000													3	10					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487611	248487611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:248487611G>C	ENST00000317965.2	-	1	288	c.260C>G	c.(259-261)tCt>tGt	p.S87C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTTGCTGCCAGACAAGTAGTT	0.483000													10	334					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56418442	56418442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:56418442G>A	ENST00000370754.5	-	61	15054	c.15055C>T	c.(15055-15057)Cag>Tag	p.Q5019*	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.Q4839*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2753*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4841*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4515*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q2427*			Q03001	DYST_HUMAN	dystonin	4839					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAGGTGCTGGACATGATTC	0.323000													5	55					0	0	1	0	0
GREM1	26585	broad.mit.edu	37	15	33023039	33023039	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:33023039C>G	ENST00000300177.4	+	2	337	c.148C>G	c.(148-150)Ccc>Gcc	p.P50A	GREM1_ENST00000560830.1_Intron|GREM1_ENST00000560677.1_Intron|GREM1_ENST00000322805.4_Intron	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	50					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GACTCAGTCGCCCCAGCAGCC	0.672000													9	41					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86050673	86050673	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:86050673C>G	ENST00000414626.2	+	16	3632	c.2743C>G	c.(2743-2745)Ctt>Gtt	p.L915V	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L935V			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	935					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGAAAAGAAACTTAAAGCGGA	0.338000													5	65					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815541	106815541	+	Silent	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:106815541G>A	ENST00000407775.2	+	8	3481	c.3231G>A	c.(3229-3231)tcG>tcA	p.S1077S	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S808S|ZFPM2_ENST00000517361.1_Silent_p.S945S|ZFPM2_ENST00000520492.1_Silent_p.S945S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1077					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S1077S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATCTCCCTCGTGGATCTCTG	0.478000													4	43					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113331129	113331129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:113331129C>T	ENST00000297405.5	-	47	7541	c.7297G>A	c.(7297-7299)Gca>Aca	p.A2433T	CSMD3_ENST00000455883.2_Missense_Mutation_p.A2329T|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2363T|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2393T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2433	Sushi 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCAGAATTGCATTACCAACT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	57					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6711664	6711664	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:6711664T>A	ENST00000377577.5	-	7	754		c.e7-2		DNAJC11_ENST00000294401.7_Splice_Site|DNAJC11_ENST00000377573.5_Splice_Site|DNAJC11_ENST00000349363.6_Splice_Site|DNAJC11_ENST00000542246.1_Splice_Site	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11						protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AAATTCCAACTGTTTGAAAAG	0.433000													4	19					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202600	140202600	+	Missense_Mutation	SNP	C	C	T	rs140742526		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:140202600C>T	ENST00000529859.1	+	1	1240	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R414C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R414C|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAGCGT	0.642000													7	203					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145749502	145749502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:145749502C>T	ENST00000529415.2	-	4	716	c.599G>A	c.(598-600)cGc>cAc	p.R200H	LRRC24_ENST00000533758.1_Missense_Mutation_p.R197H|LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	200						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCTGTGAGGCGCAGGACTTG	0.642000													16	160					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26809443	26809443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:26809443C>A	ENST00000381340.3	-	19	2647	c.2231G>T	c.(2230-2232)cGc>cTc	p.R744L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGATACTGGCGATCCAAGCA	0.453000													5	45					0.014758	0.0150364	1	1	0
GLS2	27165	broad.mit.edu	37	12	56868436	56868436	+	Silent	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:56868436G>T	ENST00000311966.4	-	12	1394	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	372					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGATGGGGCAGATCCCACCGT	0.537000													5	128					0.0215528	0.0217542	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25498412	25498412	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:25498412C>A	ENST00000264709.3	-	5	786	c.448_splice	c.e5-1	p.G150_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.G150_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	150					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTTCTTTGCCTGTGGAGAG	0.562000			"""Mis, F, N, S"""		AML								19	143					1.33834e-09	1.50563e-09	1	1	0
DSC1	1823	broad.mit.edu	37	18	28737387	28737387	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr18:28737387G>C	ENST00000257197.3	-	3	559	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.Q100E	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	100					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCCGTCTCTGACCATCTGAA	0.408000													3	35					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115926	8115926	+	Silent	SNP	G	G	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr10:8115926G>C	ENST00000379328.3	+	6	1843	c.1275G>C	c.(1273-1275)ccG>ccC	p.P425P	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.P424P	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	424				P -> A (in Ref. 4; AAA35870).	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	p.S427fs*21(1)		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						CGATGCACCCGCCATCCAGCC	0.652000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						11	67					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162469842	162469842	+	Silent	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:162469842C>G	ENST00000489294.1	+	2	524	c.366C>G	c.(364-366)ctC>ctG	p.L122L	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Silent_p.L48L|UHMK1_ENST00000538489.1_Silent_p.L122L	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	122	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGAATTGCTCTTATATTCCA	0.453000													5	94					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79442049	79442049	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:79442049C>G	ENST00000507668.2	-	11	1252	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	SERINC5_ENST00000512721.1_Missense_Mutation_p.E368Q|SERINC5_ENST00000512972.2_Missense_Mutation_p.E368Q|SERINC5_ENST00000509193.1_Missense_Mutation_p.E366Q	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	368					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCTGCTGCTCTTCAGTGTCT	0.512000													9	173					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226334469	226334469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:226334469C>G	ENST00000366812.5	-	8	1483	c.1429G>C	c.(1429-1431)Gat>Cat	p.D477H		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	477	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAATCTCATCCAGCAAAGGC	0.458000													5	108					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100617201	100617201	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:100617201T>C	ENST00000308731.7	-	7	711	c.548A>G	c.(547-549)aAg>aGg	p.K183R	BTK_ENST00000372880.1_Missense_Mutation_p.K183R	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	183					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTTTTTGTCTTCCGGTGAGA	0.493000									Agammaglobulinemia, X-linked				8	34					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60976389	60976389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr14:60976389G>T	ENST00000327720.5	+	1	721	c.273G>T	c.(271-273)tgG>tgT	p.W91C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	91					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AGGCGCTGTGGCTTGAAGCAC	0.582000													3	37					0.004672	0.00485169	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465188	10465188	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr8:10465188C>T	ENST00000382483.3	-	4	6643	c.6420G>A	c.(6418-6420)gaG>gaA	p.E2140E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2140					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGCTGGGCCTCCCCTTCAG	0.622000													18	219					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109819114	109819114	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr6:109819114G>T	ENST00000424296.2	-	37	5177	c.5101C>A	c.(5101-5103)Cca>Aca	p.P1701T	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TCAGCAGATGGGAGTGGATGA	0.453000													11	63					7.03913e-09	7.83738e-09	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1242892	1242892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr5:1242892G>A	ENST00000324642.3	+	8	1168	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	349					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTACCCAGCCGTCCTCATGCA	0.597000													10	78					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	679061	679061	+	Silent	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:679061C>T	ENST00000301329.6	-	4	445	c.360G>A	c.(358-360)ccG>ccA	p.P120P	GLOD4_ENST00000301328.5_Silent_p.P135P|GLOD4_ENST00000536578.1_Silent_p.P111P	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	135						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TATATCCTCCCGGGGCCTCGG	0.502000													7	86					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109181883	109181883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr12:109181883C>T	ENST00000326495.5	-	15	3124	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	SSH1_ENST00000360239.3_Missense_Mutation_p.E699K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1011	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGAAGATTCACTCAAAGTG	0.577000													10	172					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905484	50905484	+	Silent	SNP	C	C	T	rs147881471	byFrequency	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr19:50905484C>T	ENST00000440232.2	+	6	665	c.612C>T	c.(610-612)caC>caT	p.H204H	POLD1_ENST00000595904.1_Silent_p.H204H|POLD1_ENST00000599857.1_Silent_p.H204H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	204					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCACGGGCACGGCCCCTCCC	0.701000								DNA polymerases (catalytic subunits)					6	70					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118723885	118723885	+	Silent	SNP	A	A	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chrX:118723885A>G	ENST00000371527.1	-	2	2155	c.1503T>C	c.(1501-1503)taT>taC	p.Y501Y	NKRF_ENST00000304449.5_Silent_p.Y501Y|NKRF_ENST00000542113.1_Silent_p.Y516Y|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	501					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CAGCAGCTTCATATTTGACAG	0.423000													10	89					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47537632	47537632	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr4:47537632G>A	ENST00000273859.3	+	6	1152	c.883_splice	c.e6+1	p.G295_splice	ATP10D_ENST00000504445.1_Splice_Site_p.G295_splice	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	295					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGTTTATGCAGGTCGGTTATG	0.373000													4	67					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724935	7724935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr1:7724935delG	ENST00000303635.7	+	9	2535	c.2328delG	c.(2326-2328)ctfs	p.L776fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.L776fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCTCCGACCTGATCAACGACT	0.627			T	WWTR1	epitheliod hemangioendothelioma								42	305	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25472599	25472600	+	RNA	INS	-	-	C	rs79275127	by1000genomes	TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:25472599_25472600insC	ENST00000453082.2	+	0	1238					NR_003343.1																						TGCACAAGTGACCCCCCCAGCC	0.584													5	1	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	4	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													10	208	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578397	7578398	+	Frame_Shift_Ins	INS	-	-	G	rs68130327		TCGA-CV-A45Y-01A-11D-A25D-08	TCGA-CV-A45Y-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b79c0c3c-2629-47f7-9c9a-f2275562fac2	8589ad74-b246-4c76-a42c-2bd32a68ddcf	g.chr17:7578397_7578398insG	ENST00000420246.2	-	5	664_665	c.532_533insC	c.(532-534)ccafs	p.P178fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P178fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P178fs|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178P(6)|p.H178fs*3(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCGCTCATGGTGGGGGCAGCGC	0.644		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)			9	61	---	---	---	---