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
KRTAP10-5	386680	broad.mit.edu	37	21	45999780	45999780	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr21:45999780G>A	ENST00000400372.1	-	1	701	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	226	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CATATGGGGCGGCAGAGGAGG	0.682000													67	81					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097143	44097143	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:44097143C>T	ENST00000422989.1	-	3	1062	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	IRGQ_ENST00000602269.1_Missense_Mutation_p.V303I|L34079.2_ENST00000594374.1_Missense_Mutation_p.V16I|IRGQ_ENST00000601520.1_5'UTR	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	303							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGGGGTGACGAGGATGAGG	0.692000													14	33					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118527386	118527386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:118527386G>A	ENST00000336338.5	-	41	5754	c.5689C>T	c.(5689-5691)Cag>Tag	p.Q1897*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1897						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGGTAATTCTGTGTTGTCTCA	0.318000													22	36					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31025808	31025808	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:31025808G>A	ENST00000355537.3	+	3	2372	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCTGCTTCGCGACAGAAGC	0.572000													60	79					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260152	90260152	+	RNA	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:90260152T>C	ENST00000471857.1	+	0	436																											CAAGGTTCAGTGGCAGTGGAT	0.468000													64	136					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664536	124664536	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:124664536G>A	ENST00000325995.7	-	1	654	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	211	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TATCGCTTCCGGGCCTGGAGG	0.552000													36	58					0	0	1	0	0
UBA6-AS1	550112	broad.mit.edu	37	4	68620092	68620092	+	RNA	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr4:68620092T>C	ENST00000500538.2	+	0	1838				RP11-453E17.1_ENST00000502758.1_RNA																							GTGTCTCTGGTGCATCTGATA	0.403000													14	28					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260735	42260735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:42260735C>T	ENST00000199764.6	+	2	510	c.292C>T	c.(292-294)Cga>Tga	p.R98*	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	98	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATACAGTGGTCGAGAGACAAT	0.458000													9	296					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969377	12969377	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:12969377G>A	ENST00000251472.4	+	12	1229	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	MAST1_ENST00000591495.1_Missense_Mutation_p.R393Q	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	397	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCGACACGCGGCAGCGCTTT	0.647000													24	36					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154311746	154311746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:154311746G>A	ENST00000285873.7	-	4	649	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	192					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCATGGCCTCGAAGCCTATGA	0.378000													49	58					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340271	29340271	+	Silent	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr18:29340271A>G	ENST00000269205.5	-	1	572	c.384T>C	c.(382-384)ttT>ttC	p.F128F	SLC25A52_ENST00000579441.2_Silent_p.F118F	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	118					transport	integral to membrane|mitochondrial inner membrane											CATGGGTTGCAAACTCTGGAG	0.493000													75	119					0	0	1	0	0
FEM1B	10116	broad.mit.edu	37	15	68582393	68582393	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:68582393G>A	ENST00000306917.4	+	2	1312	c.697G>A	c.(697-699)Gat>Aat	p.D233N		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	233					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGTAAAGCTGATGTCGTAGA	0.458000													31	59					0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28293495	28293495	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:28293495C>T	ENST00000373884.5	+	3	1580	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	324						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CTGTGGGATGCGGCTGCTTCT	0.637000													28	48					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672341	186672341	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:186672341A>G	ENST00000343098.5	+	17	18575	c.18575A>G	c.(18574-18576)cAa>cGa	p.Q6192R	FSIP2_ENST00000424728.1_Missense_Mutation_p.Q6103R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAGATTATACAAAATTGTGTA	0.358000													33	39					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051728	96051728	+	Silent	SNP	C	C	T	rs56047895		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:96051728C>T	ENST00000297954.4	+	20	4803	c.4803C>T	c.(4801-4803)caC>caT	p.H1601H	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.H1564H|WNK2_ENST00000349097.3_Silent_p.H1213H|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.H1176H			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1601					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACCAGGAGCACGTGCCCACCT	0.662000													16	22					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1479909	1479909	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:1479909G>A	ENST00000571650.1	-	14	1848	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L	SLC43A2_ENST00000412517.3_Silent_p.L373L|SLC43A2_ENST00000382147.4_Silent_p.L514L|SLC43A2_ENST00000301335.4_Silent_p.L510L			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	510					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGTCTCCCTGGAGAGGACCCA	0.657000													8	11					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46079780	46079780	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:46079780A>C	ENST00000350030.3	+	8	1606	c.1519A>C	c.(1519-1521)Aat>Cat	p.N507H	NASP_ENST00000372052.4_Missense_Mutation_p.N141H|NASP_ENST00000537798.1_Missense_Mutation_p.N443H|NASP_ENST00000402363.3_Missense_Mutation_p.N509H|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.N168H	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	507	Glu-rich (acidic).|Histone-binding.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCTTCAAGAAAATGAGGAGGA	0.338000													26	36					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94828673	94828673	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:94828673T>C	ENST00000453321.3	+	28	3039	c.2981T>C	c.(2980-2982)tTg>tCg	p.L994S	TMEM67_ENST00000409623.3_Missense_Mutation_p.L913S	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	994					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAAAGATTTTTGATTTAACTT	0.274000													26	45					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18189127	18189127	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chrX:18189127G>A	ENST00000380033.4	-	13	2311	c.2179C>T	c.(2179-2181)Ctc>Ttc	p.L727F	BEND2_ENST00000380030.3_Missense_Mutation_p.L636F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	727	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAACCTCGGAGAGCACTAATC	0.398000													79	19					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569271	5569271	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:5569271G>A	ENST00000331789.5	-	2	209	c.18C>T	c.(16-18)gcC>gcT	p.A6A		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	6					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGACGAGCGCGGCGATATCAT	0.716000													17	30					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111631431	111631431	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:111631431G>A	ENST00000374647.5	-	37	4270	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	IKBKAP_ENST00000537196.1_Silent_p.N972N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1321					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGGTTCTTCTGTTGATCTTTG	0.473000													42	47					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49004336	49004336	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:49004336G>A	ENST00000600059.1	-	10	1295	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	LMTK3_ENST00000270238.3_Silent_p.D385D					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGACCTCCTCGTCTGACAGGT	0.662000													3	3					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713494	142713494	+	RNA	SNP	G	G	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:142713494G>T	ENST00000369381.2	-	0	1111																											CAAGTTTTAGGTTTCTTTCTG	0.353000													10	80					1.49906e-05	1.52934e-05	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	G	A	rs149307146	by1000genomes	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:85571180G>A	ENST00000295802.4	-	9	1587	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000475624.2_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	492					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.S492F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537000													29	71					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90171708	90171708	+	Missense_Mutation	SNP	C	C	T	rs73477443	by1000genomes	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:90171708C>T	ENST00000394412.3	-	19	4050	c.3974G>A	c.(3973-3975)cGg>cAg	p.R1325Q	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1325					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGTTCCCGCCGGGGCTTGGA	0.672000													36	49					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75189523	75189523	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:75189523A>G	ENST00000352410.4	+	7	1083	c.1016A>G	c.(1015-1017)gAc>gGc	p.D339G	MPI_ENST00000535694.1_Missense_Mutation_p.D289G|MPI_ENST00000323744.6_Missense_Mutation_p.D278G|MPI_ENST00000566377.1_Intron|MPI_ENST00000563786.1_Missense_Mutation_p.D319G			P34949	MPI_HUMAN	mannose phosphate isomerase	339					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCAATCTATGACCCCCCTGTA	0.532000													4	129					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140190	94140190	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:94140190G>A	ENST00000370244.1	-	4	585	c.297C>T	c.(295-297)caC>caT	p.H99H	BCAR3_ENST00000370243.1_Silent_p.H99H|BCAR3_ENST00000260502.6_Silent_p.H99H	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	99					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTTTCGCCGTGCCGGTCCT	0.527000													10	26					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	15					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886380	123886380	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:123886380C>T	ENST00000320891.4	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGTGGTTTACGTGCTCACTG	0.567000													53	19					0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74665639	74665639	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr14:74665639C>T	ENST00000555028.1	+	6	477	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	104										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AGAGATGACACGGGGGAAATT	0.438000													21	9					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73472485	73472485	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:73472485T>C	ENST00000224721.6	+	27	3304	c.3299T>C	c.(3298-3300)gTg>gCg	p.V1100A	C10orf105_ENST00000441508.2_3'UTR|C10orf105_ENST00000398786.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1095	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCCTGGATGTGAATGACAAC	0.597000													14	18					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107774	55107774	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:55107774C>T	ENST00000251372.3	+	7	1261	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	360	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.A360V(1)|p.A360E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGACCAAGGCGGGAGCAGCT	0.587000													44	99					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11415434	11415434	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:11415434T>A	ENST00000423059.3	-	28	5212	c.4961A>T	c.(4960-4962)gAt>gTt	p.D1654V	AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1654						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGTCGGCATCTCCATCATA	0.408000										HNSCC(18;0.044)			38	42					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494482	160494482	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:160494482C>T	ENST00000356956.1	+	34	5076	c.4928C>T	c.(4927-4929)cCg>cTg	p.P1643L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1643					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGCACACGCCGCTGGCCTGC	0.607000													24	21					0	0	1	0	0
HSD17B1	3292	broad.mit.edu	37	17	40706443	40706443	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:40706443G>A	ENST00000585807.1	+	5	4280	c.560G>A	c.(559-561)gGc>gAc	p.G187D	HSD17B1_ENST00000225929.5_Missense_Mutation_p.G188D|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	187					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	ATCGAGTGCGGCCCAGTGCAC	0.667000													10	9					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				113	16					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26204037	26204037	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:26204037G>A	ENST00000264712.3	-	1	1329	c.750C>T	c.(748-750)agC>agT	p.S250S	KIF3C_ENST00000405914.1_Silent_p.S250S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	250	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCCTCTCGCTGCCAGCCA	0.642000													18	53					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37742037	37742037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr21:37742037C>T	ENST00000400485.1	+	15	2447	c.2371C>T	c.(2371-2373)Caa>Taa	p.Q791*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	791					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TAGTGCTTTGCAACATGTAAA	0.393000													4	109					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238267677	238267677	+	Splice_Site	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:238267677C>T	ENST00000295550.4	-	20	6861		c.e20+1		COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATACACCTACCCTTCTTCCA	0.423000													106	196					0	0	1	0	0
HCG17	414778	broad.mit.edu	37	6	30227442	30227442	+	RNA	SNP	T	T	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							CTGCTGCTCTTGGGGGCCCTG	0.706000													3	35					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18826302	18826302	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr9:18826302A>G	ENST00000380548.4	+	22	4294	c.3955A>G	c.(3955-3957)Act>Gct	p.T1319A	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.T20A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1319	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCTGAAGTCACTTGGTTCAG	0.488000													8	10					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145161594	145161594	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:145161594G>A	ENST00000558170.2	-	6	1880	c.696C>T	c.(694-696)taC>taT	p.Y232Y	ZEB2_ENST00000303660.4_Silent_p.Y232Y|ZEB2_ENST00000539609.3_Silent_p.Y208Y|ZEB2_ENST00000409487.3_Silent_p.Y232Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	232						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCGTGGCGGTACTTGATGT	0.557000													4	102					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747263	94747263	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:94747263C>T	ENST00000399300.2	-	3	1589	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R459H|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	459	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGGTTTAAACGTTCAGCTTT	0.393000													64	105					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99787121	99787121	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:99787121C>A	ENST00000426455.1	+	8	1176	c.769C>A	c.(769-771)Caa>Aaa	p.Q257K	STAG3_ENST00000394018.2_Missense_Mutation_p.Q199K|STAG3_ENST00000317296.5_Missense_Mutation_p.Q257K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	257					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGTGTGCACCAAGATAACAA	0.483000													5	161					0.000602214	0.000608237	1	1	0
AMER2	219287	broad.mit.edu	37	13	25743839	25743839	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr13:25743839G>A	ENST00000357816.2	-	3	2037	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	AMER2_ENST00000381853.3_Missense_Mutation_p.P521L|AMER2_ENST00000515384.1_Missense_Mutation_p.P640L					APC membrane recruitment protein 2																		TTTGGAAACCGGGATTTTTGT	0.557000													36	61					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6624076	6624076	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr12:6624076T>C	ENST00000315579.5	+	9	1776	c.977T>C	c.(976-978)cTg>cCg	p.L326P	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L281P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	326	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTAGATCACCTGGATGGAGAA	0.478000													24	46					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874807	26874807	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:26874807G>C	ENST00000484980.1	-	3	3374	c.213C>G	c.(211-213)taC>taG	p.Y71*	UNC119_ENST00000335765.4_Nonsense_Mutation_p.Y166*|UNC119_ENST00000470125.1_Nonsense_Mutation_p.Y71*|UNC119_ENST00000301032.4_Nonsense_Mutation_p.Y166*			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	166					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GGTTGCGGAAGTAGTGCCTCT	0.527000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	86					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789277	27789277	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr16:27789277C>T	ENST00000261588.4	+	27	4807	c.4788C>T	c.(4786-4788)agC>agT	p.S1596S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1596										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGAAGCAGAGCGTTGTTGACC	0.517000													37	52					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881637	18881637	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:18881637T>G	ENST00000388995.6	-	5	1565	c.1342A>C	c.(1342-1344)Aag>Cag	p.K448Q	FAM83G_ENST00000585154.2_Missense_Mutation_p.K448Q|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.K448Q|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	448										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCACGGATCTTGATGCGGTTC	0.647000													5	6					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044681	9044681	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:9044681T>C	ENST00000382496.5	-	22	3574	c.2909A>G	c.(2908-2910)cAc>cGc	p.H970R	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	970					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCGATCATGTGGAACATGTT	0.522000													17	26					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69242854	69242854	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:69242854G>A	ENST00000542259.1	-	18	1948	c.1497C>T	c.(1495-1497)aaC>aaT	p.N499N	FRMD4B_ENST00000398540.3_Silent_p.N553N|FRMD4B_ENST00000478263.1_Silent_p.N205N			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	553						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTCGGTATTCGTTTATTGCAT	0.383000													15	22					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32289009	32289009	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:32289009G>C	ENST00000315285.3	+	1	234	c.109G>C	c.(109-111)Ggg>Cgg	p.G37R	SPAST_ENST00000345662.1_Missense_Mutation_p.G37R	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	37	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for midbody localization.|Required for nuclear localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					tcccgccgccgggccggcccc	0.701000													9	7					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362572	228362572	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:228362572C>T	ENST00000366711.3	+	2	523	c.521C>T	c.(520-522)tCg>tTg	p.S174L	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_5'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	174					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGGGCTGCATCGCTGCAGGAG	0.701000													12	5					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88138483	88138483	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:88138483A>G	ENST00000507897.1	+	9	1183	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Q367R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	367										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAGTGATGCAATGTCATCTT	0.373000													38	45					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97474459	97474459	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:97474459G>A	ENST00000377075.2	+	6	2208	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	CNNM4_ENST00000540067.1_Missense_Mutation_p.V191M	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	704					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCGGGCACTCGTGGACTTGCA	0.557000													14	28					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609710	142609710	+	Missense_Mutation	SNP	C	C	T	rs144202979		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr7:142609710C>T	ENST00000265310.1	-	13	2074	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	576					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCATCATGGCGATGAACAAG	0.547000													29	16					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18649033	18649033	+	Silent	SNP	G	G	A	rs140514472	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr19:18649033G>A	ENST00000597960.2	-	5	885	c.765C>T	c.(763-765)agC>agT	p.S255S	FKBP8_ENST00000222308.3_Silent_p.S255S|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000596558.1_Silent_p.S254S|FKBP8_ENST00000453489.2_Silent_p.S283S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	254					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CACCTTTGGCGCTGGAGGTGA	0.627000													33	52					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543105	28543105	+	Silent	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:28543105A>G	ENST00000452236.2	-	3	1994	c.1377T>C	c.(1375-1377)atT>atC	p.I459I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	459	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCCATGGACAATTTTCAATT	0.433000													38	62					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46968669	46968669	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:46968669C>T	ENST00000374323.3	-	2	1013	c.426G>A	c.(424-426)gtG>gtA	p.V142V	SYT15_ENST00000374325.3_Silent_p.V89V|SYT15_ENST00000374321.4_Silent_p.V89V|SYT15_ENST00000503753.1_Silent_p.V89V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	89						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTGCAGGGGCACCCAATCTC	0.632000													8	36					0	0	1	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870950	12870950	+	Silent	SNP	G	G	A	rs140927518	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr12:12870950G>A	ENST00000228872.4	+	1	893	c.177G>A	c.(175-177)aaG>aaA	p.K59K	CDKN1B_ENST00000396340.1_Silent_p.K59K|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCCAGCGCAAGTGGAATTTCG	0.577000													46	65					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													6	236					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26964012	26964012	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:26964012T>A	ENST00000528896.2	-	15	2022	c.1948A>T	c.(1948-1950)Acc>Tcc	p.T650S	KIAA0100_ENST00000544884.1_Missense_Mutation_p.T507S|KIAA0100_ENST00000389003.3_Missense_Mutation_p.T507S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	650						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGTGATAGGTGATGGAGAGC	0.527000													30	43					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39578364	39578364	+	Missense_Mutation	SNP	G	G	A	rs140701476		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:39578364G>A	ENST00000225550.3	-	5	976	c.977C>T	c.(976-978)aCg>aTg	p.T326M	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	326	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGCATTCACCGTGCATCTCAG	0.592000													31	38					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985068	108985068	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr6:108985068G>A	ENST00000406360.1	+	2	1375	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	FOXO3_ENST00000343882.6_Silent_p.S344S|FOXO3_ENST00000540898.1_Silent_p.S124S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	344					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CGCCTCTCTCGCCCATGCTCT	0.582000													18	36					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98506994	98506994	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:98506994G>A	ENST00000265261.6	+	7	614	c.192G>A	c.(190-192)acG>acA	p.T64T	ST3GAL6_ENST00000483910.1_Silent_p.T182T|ST3GAL6_ENST00000394162.1_Silent_p.T182T|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	182					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACCCTAATACGACAGTGATTC	0.388000													43	143					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141115623	141115623	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:141115623A>G	ENST00000389484.3	-	74	12291	c.11320T>C	c.(11320-11322)Tgc>Cgc	p.C3774R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3774	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTA	0.388000										TSP Lung(27;0.18)			46	66					0	0	1	0	0
C17orf102	400591	broad.mit.edu	37	17	32906251	32906251	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:32906251C>T	ENST00000357754.1	-	1	137	c.49G>A	c.(49-51)Ggg>Agg	p.G17R		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	17										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGGCCGGCCCCATTCGGGTC	0.607000													11	15					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70758195	70758195	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:70758195A>G	ENST00000370944.4	-	9	1404	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V329A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	364					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAGTCCATTCACCAGGTAAAA	0.323000													13	30					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89383306	89383306	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:89383306G>A	ENST00000439576.2	+	4	892	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ACAN_ENST00000559004.1_Missense_Mutation_p.R173Q|ACAN_ENST00000352105.7_Missense_Mutation_p.R173Q|ACAN_ENST00000558207.1_Missense_Mutation_p.R173Q|ACAN_ENST00000561243.1_Missense_Mutation_p.R173Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	173					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCGCAGCGGGCCTGCCTG	0.612000													7	16					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67568714	67568714	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr3:67568714C>T	ENST00000307227.5	-	6	644	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SUCLG2_ENST00000492795.1_Missense_Mutation_p.R206Q|SUCLG2_ENST00000493112.1_Missense_Mutation_p.R206Q	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	206	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCGGCCATCCGCTGAGCTTG	0.393000													80	62					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112745399	112745399	+	Silent	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:112745399C>T	ENST00000369452.4	+	3	1062	c.717C>T	c.(715-717)aaC>aaT	p.N239N	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	239					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AATTATGTAACCTCATTACGC	0.328000													20	40					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2929473	2929473	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:2929473G>A	ENST00000380574.1	+	3	586	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	SLC22A18_ENST00000449793.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000347936.2_Missense_Mutation_p.R52Q|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R52Q			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	52					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTGTCTCGGAAACTGGGC	0.632000													25	28					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18905212	18905212	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:18905212T>A	ENST00000377304.4	-	4	740	c.322A>T	c.(322-324)Aaa>Taa	p.K108*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	108							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTGTTTTTTAATATTCTTT	0.403000													21	23					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71953002	71953002	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr15:71953002G>A	ENST00000355327.3	+	8	1420	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	THSD4_ENST00000357769.4_Missense_Mutation_p.R69H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R429H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	429						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGCTACCACCGCGTCGTGGAG	0.527000													51	64					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:20907004T>C	ENST00000298925.5	+	6	758	c.605T>C	c.(604-606)gTg>gCg	p.V202A	NELL1_ENST00000357134.5_Missense_Mutation_p.V174A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A|NELL1_ENST00000325319.5_Missense_Mutation_p.V117A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	174	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433000													3	24					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883249	4883249	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:4883249G>A	ENST00000361571.5	-	8	1776	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	CAMTA2_ENST00000414043.3_Silent_p.H479H|CAMTA2_ENST00000572543.1_Silent_p.H461H|CAMTA2_ENST00000358183.4_Silent_p.H456H|CAMTA2_ENST00000348066.3_Silent_p.H456H|CAMTA2_ENST00000381311.5_Silent_p.H458H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	456					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggCAGCCCCGTGACCCTTGA	0.617000													48	62					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109810668	109810668	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:109810668G>A	ENST00000271332.3	+	17	6365	c.6304G>A	c.(6304-6306)Gtg>Atg	p.V2102M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2102					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACACAGGACGTGCACTTCAC	0.652000													16	35					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36126568	36126568	+	Missense_Mutation	SNP	C	C	A	rs144280242	byFrequency	TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr4:36126568C>A	ENST00000303965.4	-	22	4151	c.3662G>T	c.(3661-3663)aGa>aTa	p.R1221I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1221	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTTTAATTCTTTCCTTGTC	0.358000													30	52					8.4185e-14	8.67621e-14	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120606013	120606013	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr8:120606013C>T	ENST00000427067.2	-	12	1228	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ENPP2_ENST00000259486.6_Missense_Mutation_p.V406I|ENPP2_ENST00000522826.1_Missense_Mutation_p.V354I|ENPP2_ENST00000075322.6_Missense_Mutation_p.V354I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	354					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAAAGATGACGTTGACACAC	0.383000													21	256					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405960	1405960	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:1405960G>T	ENST00000381312.1	-	3	665	c.340C>A	c.(340-342)Cag>Aag	p.Q114K		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	114					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CAGACCAGCTGCAGTTTGCAC	0.721000													13	27					0.00316338	0.00316338	1	1	0
RIF1	55183	broad.mit.edu	37	2	152319494	152319494	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:152319494G>A	ENST00000243326.4	+	29	3943	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	RIF1_ENST00000428287.2_Missense_Mutation_p.E1154K|RIF1_ENST00000453091.2_Missense_Mutation_p.E1154K|RIF1_ENST00000444746.2_Missense_Mutation_p.E1154K|RIF1_ENST00000430328.2_Missense_Mutation_p.E1154K			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1154					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGAATAATGAGTGTGGTTC	0.388000													16	23					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516218	140516218	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:140516218C>G	ENST00000231134.5	+	1	1419	c.1202C>G	c.(1201-1203)aCc>aGc	p.T401S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		401	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTTTACACCCTAGTGACA	0.493000													45	46					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811289	140811289	+	Silent	SNP	A	A	G			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr5:140811289A>G	ENST00000252085.3	+	1	1105	c.963A>G	c.(961-963)gcA>gcG	p.A321A	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGCAAGCAATGGATAATG	0.493000													56	93					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292		TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403000	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			108	16					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247850	177247850	+	Silent	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr1:177247850G>A	ENST00000361539.4	+	7	1476	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		388						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGACCCATCGGATCCTACGCC	0.612000													43	65					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122176222	122176222	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr2:122176222G>A	ENST00000263710.4	-	23	2685	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S	CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000455322.2_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	766	Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCCCGAGCAGGGCTTGTATCT	0.597000													29	57					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759083	94759083	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr11:94759083G>A	ENST00000450979.2	+	1	662	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	121					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TTGGAGCAACGATACTGGAAG	0.463000													7	3					0	0	1	0	0
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													8	109	---	---	---	---					
RP5-837J1.2	0	broad.mit.edu	37	17	33332322	33332323	+	RNA	DEL	GA	GA	-			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:33332322_33332323delGA	ENST00000578488.1	+	0	216_217																											CACCAACATGGAGACTTTGTAC	0.470													6	8	---	---	---	---					
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BB-A6UM-01A-12D-A34J-08	TCGA-BB-A6UM-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b43c551-9402-4099-8f3c-e4787618be71	fef79726-3271-42da-858d-ffd6aba74a04	g.chr17:47302390_47302392delAGG	ENST00000413580.1	-	3	512_514	c.95_97delCCT	c.(94-99)tgc>t	p.SC32del	PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	0					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.700													3	5	---	---	---	---