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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DNAH3	55567	broad.mit.edu	37	16	20974933	20974933	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:20974933G>A	uc010vbe.2	-	52	10273	c.10273C>T	c.(10273-10275)Cgt>Tgt	p.R3425C	DNAH3_uc010vbd.2_Missense_Mutation_p.R860C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3425					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGATGCACGGACAATCTCT	0.552000														46			16		0	0	0.000422831	0	0
LRP1B	53353	broad.mit.edu	37	2	141079576	141079576	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:141079576C>T	uc002tvj.1	-	81	13568	c.12596G>A	c.(12595-12597)gGa>gAa	p.G4199E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4199					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)		CAAATATTTTCCTTCTGGACA	0.358000										TSP Lung(27;0.18)				66			28		0	0	0.001512	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421804	89421804	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:89421804G>A	uc001pda.3	+	9	1187	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	221					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAACGACTTGGAATTGCTTC	0.299000														135			45		0	0	0.000781405	0	0
CAD	790	broad.mit.edu	37	2	27460710	27460710	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:27460710T>A	uc002rji.3	+	28	4850	c.4688T>A	c.(4687-4689)tTc>tAc	p.F1563Y	CAD_uc010eyw.3_Missense_Mutation_p.F1500Y	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1563	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AATGAGACCTTCTCTGAGCTG	0.612000														26			15		0	0	0.000422831	0	0
RGS22	26166	broad.mit.edu	37	8	101020705	101020705	+	Silent	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:101020705T>C	uc003yjb.1	-	14	2454	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	RGS22_uc003yja.1_Silent_p.P572P|RGS22_uc003yjc.1_Silent_p.P741P|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.P142P	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	753					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCAAATGGTGGCTGTATTT	0.383000														54			27		0	0	0.000878237	0	0
CEP70	80321	broad.mit.edu	37	3	138291762	138291762	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:138291762G>A	uc003esl.3	-	2	206	c.8C>T	c.(7-9)cCg>cTg	p.P3L	CEP70_uc011bmk.2_Intron|CEP70_uc011bml.2_Intron|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.P3L|CEP70_uc003esn.3_Missense_Mutation_p.P3L	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	3					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AGGGGCTACCGGAAACATAGT	0.333000														320			97		0	0	0.000781405	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3942207	3942207	+	Missense_Mutation	SNP	G	A	A	rs144739333		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:3942207G>A	uc010xia.2	+	6	858	c.644G>A	c.(643-645)gGa>gAa	p.G215E	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.G210E	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	210					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACACAGGGACCCGGACGC	0.637000														32			8		0	0	0.000274275	0	0
ELOF1	84337	broad.mit.edu	37	19	11664867	11664867	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11664867G>A	uc002msd.1	-	3	367	c.209C>T	c.(208-210)tCt>tTt	p.S70F	ELOF1_uc002mse.1_Missense_Mutation_p.S49F	NM_032377	NP_115753	P60002	ELOF1_HUMAN	Homo sapiens elongation factor 1 homolog (S. cerevisiae) (ELOF1), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			endometrium(3)|lung(2)	5						CACGGTACAAGAGATGACTCC	0.587000														96			43		0	0	0.000781405	0	0
HCAR3	8843	broad.mit.edu	37	12	123200933	123200933	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:123200933G>A	uc001ucy.4	-	0	507	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	118						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	ACCACCGTGAGGAATATGATG	0.557000														59			22		0	0	0.00278032	0	0
MGAT5	4249	broad.mit.edu	37	2	135093810	135093810	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:135093810T>C	uc002ttw.4	+	4	741	c.596T>C	c.(595-597)tTa>tCa	p.L199S		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGTCCTCATTTACCTTGGAGA	0.353000														46			19		0	0	0.00229938	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175799	40175799	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:40175799G>C	uc002hyq.3	+	3	529	c.464G>C	c.(463-465)cGc>cCc	p.R155P	NKIRAS2_uc010wgd.2_3'UTR|NKIRAS2_uc002hyr.3_Missense_Mutation_p.R155P|NKIRAS2_uc002hys.3_Missense_Mutation_p.R155P|NKIRAS2_uc010wge.2_Missense_Mutation_p.R99P|NKIRAS2_uc002hyt.3_Missense_Mutation_p.R155P	NM_001001349	NP_060065	Q9NYR9	KBRS2_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 2 (NKIRAS2), transcript variant 1, mRNA.	155	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCGGACCGGCGCTCCCTCCTG	0.617000														55			19		0	0	0.00074312	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053596	106053596	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:106053596G>A	uc001yrt.3	-	3	750	c.719C>T	c.(718-720)aCg>aTg	p.T240M	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GCACGTCAGCGTCACCAGCTC	0.667000														58			10		0	0	0.000978159	0	0
EPPK1	83481	broad.mit.edu	37	8	144940435	144940435	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:144940435G>A	uc003zaa.1	-	0	7000	c.6987C>T	c.(6985-6987)ctC>ctT	p.L2329L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2329						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGGACGATGAGGTCCTTCT	0.697000														313			15		0	0	0.000566183	0	0
AQP6	363	broad.mit.edu	37	12	50369410	50369410	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:50369410G>A	uc001rvr.1	+	3	1498	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	AQP6_uc001rvp.1_Missense_Mutation_p.E95K|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	269					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCTGAAGAAGGAATCCCAGCC	0.672000														25			13		0	0	0.00136819	0	0
INTS2	57508	broad.mit.edu	37	17	59999159	59999159	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:59999159G>A	uc002izn.3	-	3	562	c.486C>T	c.(484-486)ttC>ttT	p.F162F	INTS2_uc002izm.3_Silent_p.F154F	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	162					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAGAAGACTTGAAAAAAAATT	0.299000														50			19		0	0	0.00229938	0	0
NPAS2	4862	broad.mit.edu	37	2	101604640	101604641	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:101604640_101604641CC>TT	uc010yvt.1	+	16	1926_1927	c.1924_1925CC>TT	c.(1924-1926)ccc>TTc	p.P642F	NPAS2_uc002tap.1_Missense_Mutation_p.P577F|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	577					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P642P(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGACTCAGCCCCAGCTCGGG	0.599000														76			26		0	0	6.4e-05	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784915	68784915	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:68784915C>T	uc003hdr.1	-	7	858	c.737G>A	c.(736-738)gGa>gAa	p.G246E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G243E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	246	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GATTTTTGTTCCAAAACTAAC	0.348000														109			32		0	0	0.0024448	0	0
DYSF	8291	broad.mit.edu	37	2	71778184	71778184	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:71778184G>A	uc010fen.3	+	17	1731	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	DYSF_uc010fei.3_Silent_p.L529L|DYSF_uc010feh.3_Silent_p.L498L|DYSF_uc002sig.4_Silent_p.L498L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L543L|DYSF_uc010fee.3_Silent_p.L512L|DYSF_uc010fef.3_Silent_p.L529L|DYSF_uc002sie.3_Silent_p.L512L|DYSF_uc010feo.3_Silent_p.L544L|DYSF_uc010fej.3_Silent_p.L499L|DYSF_uc010fel.3_Silent_p.L499L|DYSF_uc010fem.3_Silent_p.L513L|DYSF_uc002sif.3_Silent_p.L513L|DYSF_uc010fek.3_Silent_p.L530L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	512						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGACTACCTGGGCTTCCTCC	0.597000														64			23		0	0	0.000586117	0	0
FBN2	2201	broad.mit.edu	37	5	127866296	127866296	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:127866296G>A	uc003kuu.3	-	2	867	c.428C>T	c.(427-429)tCa>tTa	p.S143L	FBN2_uc003kuv.2_Intron|FBN2_uc003kuw.4_Missense_Mutation_p.S143L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	143					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTTGATTTTGATCCACAGGT	0.393000														28			17		0	0	0.000566183	0	0
TRPC7	57113	broad.mit.edu	37	5	135610477	135610477	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:135610477C>T	uc003lbn.2	-	3	1234	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	TRPC7_uc010jef.2_Intron|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.E277K|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	338					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGAGATTTTCATACCACATG	0.418000														5			6		0	0	0.00116845	0	0
OR51T1	401665	broad.mit.edu	37	11	4903102	4903102	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:4903102C>T	uc010qyp.2	+	0	54	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTTTTCTTTCCTCATAGTTC	0.308000														33			7		0	0	0.00198382	0	0
OR5A1	219982	broad.mit.edu	37	11	59210689	59210689	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:59210689C>T	uc001nnx.1	+	0	48	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCATGTTCATCCTCCTGGGAT	0.527000														89			27		0	0	0.00127121	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576648	33576648	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:33576648T>G	uc003jia.1	-	18	3646	c.3483A>C	c.(3481-3483)gaA>gaC	p.E1161D	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1076D	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1161	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTCTCTTTCTTCCCCTGAGC	0.463000										HNSCC(64;0.19)				108			19		0	0	0.00152264	0	0
NALCN	259232	broad.mit.edu	37	13	101759944	101759944	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:101759944C>T	uc001vox.1	-	21	2662	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	825						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCTGAGTTCCTCTTCTTGC	0.498000														69			27		0	0	0.001512	0	0
TAF4	6874	broad.mit.edu	37	20	60574056	60574056	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:60574056G>A	uc002ybs.3	-	11	2896	c.2896C>T	c.(2896-2898)Ctg>Ttg	p.L966L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	966					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCCCTCATCAGGATCTCCCGC	0.557000														231			33		0	0	0.00178596	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96523137	96523137	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:96523137C>T	uc002suz.1	-	29	2558	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T	ANKRD36C_uc002sva.1_Non-coding_Transcript					SubName: Full=Uncharacterized protein;											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GTCACATCAGCTTCTATCCTA	0.348000														43			16		0	0	0.000566183	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					76			16		0	0	0.000422831	0	0
SPAG17	200162	broad.mit.edu	37	1	118571014	118571014	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:118571014C>T	uc001ehk.2	-	25	3681	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1205						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)		TCTACTTCTTCTTCCTGTAAA	0.408000														78			24		0	0	0.000586117	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									69			25		0	0	0.00127121	0	0
KEL	3792	broad.mit.edu	37	7	142641823	142641823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:142641823C>T	uc003wcb.3	-	11	1530	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	440					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAATAATTTCATGGCCTGTG	0.592000														26			9		0	0	0.000978159	0	0
GABRA4	2557	broad.mit.edu	37	4	46979555	46979555	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:46979555C>T	uc003gxg.3	-	3	1349	c.366G>A	c.(364-366)atG>atA	p.M122I	GABRA4_uc021xnz.1_Missense_Mutation_p.M103I|GABRA4_uc021xoa.1_Missense_Mutation_p.M103I	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	122					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGTTACCATCATATTGTTCA	0.363000														56			12		0	0	0.000978159	0	0
OSM	5008	broad.mit.edu	37	22	30660099	30660099	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:30660099G>A	uc003ahb.3	-	2	573	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	178					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCAGGGGTGGGGGTGGGCGGC	0.642000														30			4		0	0	0.00024832	0	0
BCAS3	54828	broad.mit.edu	37	17	59067416	59067416	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:59067416C>T	uc002iyv.4	+	14	1415	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	BCAS3_uc010wow.1_Missense_Mutation_p.P223S|BCAS3_uc002iyu.4_Missense_Mutation_p.P436S|BCAS3_uc002iyw.4_Missense_Mutation_p.P432S|BCAS3_uc002iyx.1_Missense_Mutation_p.P251S|BCAS3_uc002iyy.4_Missense_Mutation_p.P207S|BCAS3_uc002iyz.4_5'UTR|BCAS3_uc002iza.4_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	436						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCCATCAACCCTTATGGTGG	0.498000														62			25		0	0	0.000720815	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458975	45458975	+	RNA	SNP	A	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:45458975A>T	uc001rol.3	-	0		c.220T>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AGATCCTTGTATTTCCCCAGC	0.428000														19			6		0	0	0.000157383	0	0
NPHS2	7827	broad.mit.edu	37	1	179521770	179521770	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:179521770C>T	uc001gmq.4	-	6	926	c.841G>A	c.(841-843)Gag>Aag	p.E281K	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.E213K|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	281					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTTCAGCCTCCACAGCCAGT	0.532000														36			12		0	0	0.00244969	0	0
DNAH11	8701	broad.mit.edu	37	7	21675610	21675610	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:21675610G>A	uc003svc.3	+	25	4668	c.4637G>A	c.(4636-4638)cGa>cAa	p.R1546Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1546	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGTCCAGCGAACTTGGTCT	0.388000									Kartagener syndrome					29			9		0	0	0.000442599	0	0
FAM59A	64762	broad.mit.edu	37	18	29848121	29848121	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:29848121G>A	uc002kxl.3	-	5	2400	c.2344C>T	c.(2344-2346)Cct>Tct	p.P782S	FAM59A_uc002kxk.2_Missense_Mutation_p.P781S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	782										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GATGAGAAAGGGTAGGAGGCA	0.552000														36			11		0	0	0.000673444	0	0
BAI1	575	broad.mit.edu	37	8	143565392	143565392	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:143565392G>A	uc003ywm.3	+	10	2368	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	729					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGACAAGTGGGAGGAGGCCCA	0.612000														124			28		0	0	0.00209593	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395946	47395946	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:47395946C>T	uc001cqp.4	-	11	1452	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	467					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L467L(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGCCACCTTCAGCTCGTTCA	0.537000														86			34		0	0	0.00111076	0	0
UNC5D	137970	broad.mit.edu	37	8	35579852	35579852	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:35579852C>T	uc003xjr.2	+	8	1570	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V	UNC5D_uc003xjs.2_Silent_p.V409V|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Silent_p.V172V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	414					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCGTGGACGTCATTGACTCTT	0.562000														171			57		0	0	0.000781405	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990330	39990330	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:39990330C>T	uc002xjy.1	-	3	2103	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	627						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACTTCGGCTTCCACCTTGCGT	0.617000														37			17		0	0	0.000422831	0	0
FAM5B	57795	broad.mit.edu	37	1	177249834	177249834	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:177249834G>A	uc001glf.3	+	7	1834	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	FAM5B_uc001glg.3_Missense_Mutation_p.D403N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	508						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						GCTGGAGACAGACTTGCAGGA	0.597000														41			16		0	0	0.000422831	0	0
COL6A3	1293	broad.mit.edu	37	2	238253335	238253335	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:238253335C>T	uc002vwl.2	-	35	7611	c.7326G>A	c.(7324-7326)ggG>ggA	p.G2442G	COL6A3_uc002vwo.2_Silent_p.G2236G|COL6A3_uc010znj.1_Silent_p.G1835G|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.G263G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2442	Nonhelical region.|VWFA 11.				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)		CCACCCGGGCCCCCCGTGGGC	0.562000														81			26		0	0	0.000720815	0	0
RGAG1	57529	broad.mit.edu	37	X	109694734	109694734	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:109694734C>T	uc004eor.2	+	2	1135	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	RGAG1_uc011msr.1_Missense_Mutation_p.P297S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	297										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATACCTACCCCGCTCATGTC	0.488000														51			53		0	0	0.000781405	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176211	63176211	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:63176211G>A	uc001nww.3	+	8	1729	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	487			M -> V (in a breast cancer sample; somatic mutation).		transmembrane transport	integral to membrane		p.M487V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCCCTCATGATGATCCTAA	0.478000														42			23		0	0	0.00047179	0	0
PPBP	5473	broad.mit.edu	37	4	74853797	74853797	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:74853797G>A	uc003hhj.3	-	0	111	c.24C>T	c.(22-24)acC>acT	p.T8T		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	8					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TACAGGAAGGGGTGGTATCAA	0.522000														103			36		0	0	0.00111076	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203837	23203837	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:23203837C>T	uc002dlm.1	+	3	922	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	261					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGACCTGCTTCTTTGATGGAG	0.512000														23			8		0	0	0.000274275	0	0
H6PD	9563	broad.mit.edu	37	1	9324543	9324543	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:9324543C>T	uc001apt.3	+	4	2264	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	664	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CGGCTCTGCGCCGAGGAGGAC	0.662000														96			14		0	0	0.00244969	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851499	102851499	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:102851499G>A	uc002tbs.3	+	10	1566	c.1440G>A	c.(1438-1440)ggG>ggA	p.G480G	IL1RL2_uc002tbt.3_Silent_p.G362G	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	480	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.D479D(1)|p.G480W(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCAGGACGGGATGAAGGTTA	0.507000														57			19		0	0	0.00074312	0	0
CPSF1	29894	broad.mit.edu	37	8	145622099	145622099	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:145622099C>T	uc003zcj.3	-	23	2713	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	880					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGCTGAGAGTCGTGGGGGAAG	0.607000														27			7		0	0	0.00198382	0	0
FCHO1	23149	broad.mit.edu	37	19	17877606	17877606	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:17877606A>C	uc002nhg.3	+	6	602	c.323A>C	c.(322-324)aAg>aCg	p.K108T	FCHO1_uc010ebb.2_Missense_Mutation_p.K108T|FCHO1_uc002nhh.2_Missense_Mutation_p.K108T|FCHO1_uc010xpw.1_Missense_Mutation_p.K58T|FCHO1_uc010ebc.1_Missense_Mutation_p.K115T	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	108										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAACAGCTCAAGACCCACAAG	0.607000														25			10		0	0	0.000978159	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673326	1673326	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:1673326C>T	uc002ftl.3	+	2	422	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	89					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGCCACGGCCCTCTCGGCCCT	0.632000														33			10		0	0	0.000442599	0	0
SLC30A4	7782	broad.mit.edu	37	15	45781073	45781073	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:45781073C>T	uc001zvj.3	-	4	1172	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	287					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TATTAGCACACCAACACTCTG	0.398000														78			26		0	0	0.00127121	0	0
CORIN	10699	broad.mit.edu	37	4	47746429	47746429	+	Silent	SNP	G	A	A	rs148119573	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:47746429G>A	uc003gxm.3	-	4	882	c.789C>T	c.(787-789)aaC>aaT	p.N263N	CORIN_uc011bzf.2_Silent_p.N124N|CORIN_uc011bzg.2_Silent_p.N196N|CORIN_uc011bzh.1_Silent_p.N263N|CORIN_uc011bzi.1_Silent_p.N263N|CORIN_uc003gxn.4_Silent_p.N263N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	263					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTGCTTTCCGTTTTCCTGCT	0.378000														103			32		0	0	0.00058488	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800909	18800909	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:18800909A>G	uc001rdt.3	+	31	4401	c.4285A>G	c.(4285-4287)Agt>Ggt	p.S1429G	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1470G|PIK3C2G_uc010sic.2_Missense_Mutation_p.S1248G	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1429					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCGACTCTGTAGTGTCCCACT	0.343000														33			9		0	0	0.000442599	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28217542	28217542	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:28217542G>A	uc003nks.1	-	1	738	c.494C>T	c.(493-495)tCt>tTt	p.S165F	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.S10F	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	165					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCTACTTTGAGACCCTTGAGT	0.483000														126			38		0	0	0.00148497	0	0
abParts	0	broad.mit.edu	37	14	106586347	106586347	+	RNA	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:106586347G>A	uc021ser.1	-	1811		c.33949C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TACTGAAGGTGAATCCAGAGG	0.567000														134			23		0	0	0.000586117	0	0
MTUS2	23281	broad.mit.edu	37	13	30072650	30072650	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:30072650G>A	uc001usl.4	+	11	3862	c.3804G>A	c.(3802-3804)aaG>aaA	p.K1268K	MTUS2_uc001usm.4_Silent_p.K237K|MTUS2_uc010aau.3_Silent_p.K147K|MTUS2_uc010tdq.2_Silent_p.K20K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1258						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAGAAAAGAAGATTCTTG	0.433000														48			16		0	0	0.000308642	0	0
DCDC2	51473	broad.mit.edu	37	6	24178596	24178596	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:24178596C>T	uc003ndx.3	-	8	1590	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	DCDC2_uc003ndy.3_Missense_Mutation_p.E430K|DCDC2_uc003ndw.3_Missense_Mutation_p.E181K	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	430					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTTCTTTCCTTGTCTAGG	0.478000														186			76		0	0	0.000781405	0	0
NAV2	89797	broad.mit.edu	37	11	20122559	20122559	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:20122559C>T	uc010rdm.2	+	33	6787	c.6426C>T	c.(6424-6426)tcC>tcT	p.S2142S	NAV2_uc001mpp.3_Silent_p.S2022S|NAV2_uc001mpr.4_Silent_p.S2086S|NAV2_uc021qew.1_Silent_p.S2089S|NAV2_uc009yhx.3_Silent_p.S1150S|NAV2_uc009yhz.3_Silent_p.S731S|NAV2_uc001mpu.3_Silent_p.S524S	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2145						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTACGTCTCCCTCCTGATAG	0.557000														94			38		0	0	0.00195071	0	0
KLKB1	3818	broad.mit.edu	37	4	187179291	187179291	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:187179291C>T	uc003iyy.3	+	14	1913	c.1842C>T	c.(1840-1842)gtC>gtT	p.V614V	KLKB1_uc011clc.2_Silent_p.V412V|KLKB1_uc011cld.2_3'UTR	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	614	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACACCAAAGTCGCTGAGTACA	0.507000														59			19		0	0	0.000958276	0	0
PRAME	23532	broad.mit.edu	37	22	22892343	22892343	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:22892343G>A	uc002zwf.3	-	3	914	c.758C>T	c.(757-759)tCt>tTt	p.S253F	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S237F|PRAME_uc010gtr.3_Missense_Mutation_p.S253F|PRAME_uc002zwg.3_Missense_Mutation_p.S253F|PRAME_uc002zwh.3_Missense_Mutation_p.S253F|PRAME_uc002zwi.3_Missense_Mutation_p.S253F|PRAME_uc002zwj.3_Missense_Mutation_p.S253F|PRAME_uc002zwk.3_Missense_Mutation_p.S253F	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	253					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTAAGGAGAAAATTTCGC	0.473000														72			23		0	0	0.00047179	0	0
DHX38	9785	broad.mit.edu	37	16	72132681	72132681	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:72132681G>A	uc002fcb.3	+	4	1109	c.754G>A	c.(754-756)Gat>Aat	p.D252N	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	252					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTCCACTCGAGATCGAGACAG	0.637000														34			7		0	0	0.000157383	0	0
EFR3A	23167	broad.mit.edu	37	8	132982757	132982757	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:132982757G>A	uc003yte.3	+	9	1230	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	342						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATACCCTTTTGAAACATCTGC	0.388000														40			14		0	0	0.00185496	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322395	4322395	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:4322395C>T	uc003ghu.3	+	7	1825	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	ZBTB49_uc003ghv.3_Silent_p.L33L|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Silent_p.L128L	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CAGGTGACCTCCGCAGGCATG	0.507000														60			19		0	0	0.000958276	0	0
DAB1	1600	broad.mit.edu	37	1	57489283	57489283	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:57489283G>A	uc009vzx.1	-	10	1136	c.816C>T	c.(814-816)atC>atT	p.I272I	DAB1_uc001cyt.1_Silent_p.I270I|DAB1_uc001cyq.1_Silent_p.I270I|DAB1_uc001cyr.1_Silent_p.I186I|DAB1_uc009vzw.1_Silent_p.I254I|DAB1_uc001cys.1_Silent_p.I272I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	305					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATGAAGATGGGATAAAGGCAT	0.537000														27			10		0	0	0.000978159	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578710	44578710	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:44578710G>A	uc003tlb.3	-	1	1342	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	NPC1L1_uc011kbw.2_Missense_Mutation_p.P429L|NPC1L1_uc003tlc.3_Missense_Mutation_p.P429L|NPC1L1_uc003tld.3_Missense_Mutation_p.P429L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	429					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAAGTTCTTGGGCCCCAGCAG	0.597000														56			13		0	0	0.00185496	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654046	43654046	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:43654046C>T	uc001zrk.1	-	4	1931	c.1784G>A	c.(1783-1785)aGg>aAg	p.R595K	ZSCAN29_uc001zrj.1_Missense_Mutation_p.R475K|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R205K|ZSCAN29_uc010bdf.1_Missense_Mutation_p.G524R|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	595					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGAATTTTCCTTTCAGATCT	0.418000														122			51		0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618821	77618821	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:77618821G>A	uc003yau.2	+	1	2885	c.2498G>A	c.(2497-2499)gGa>gAa	p.G833E	ZFHX4_uc003yat.1_Missense_Mutation_p.G833E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G833E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	833						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCCTGACCGGAATGAAGCTG	0.552000										HNSCC(33;0.089)				22			9		0	0	0.000274275	0	0
S1PR1	1901	broad.mit.edu	37	1	101705126	101705127	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:101705126_101705127CC>TT	uc021oqt.1	+	0	586_587	c.586_587CC>TT	c.(586-588)ccg>TTg	p.P196L	S1PR1_uc001dud.2_Missense_Mutation_p.P196L|S1PR1_uc009weg.2_Missense_Mutation_p.P196L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	196					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CACCGTGCTGCCGCTCTACCAC	0.564000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			29		0	0	6.4e-05	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958762	88958762	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:88958762C>T	uc002fmm.2	-	3	800	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	CBFA2T3_uc002fml.2_Missense_Mutation_p.A85T|CBFA2T3_uc010cif.1_Missense_Mutation_p.A110T|CBFA2T3_uc002fmn.2_Missense_Mutation_p.A146T	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	171	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGCTGCCGGGCCCCGCAGGCT	0.647000			T	RUNX1	AML									28			11		0	0	0.000978159	0	0
FOXP2	93986	broad.mit.edu	37	7	114298171	114298171	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:114298171C>T	uc003vhb.3	+	10	1691	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FOXP2_uc003vgu.3_Intron|FOXP2_uc003vgz.3_Silent_p.S464S|FOXP2_uc003vha.3_Silent_p.S347S|FOXP2_uc011kmv.2_Silent_p.S438S|FOXP2_uc011kmu.2_Silent_p.S456S|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Silent_p.S9S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	439					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGGAGACATCCCCACAGAGCT	0.522000														81			29		0	0	0.00178596	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060964	76060964	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:76060964G>A	uc002jud.2	+	4	3157	c.2557G>A	c.(2557-2559)Gtg>Atg	p.V853M	TNRC6C_uc002juf.2_Missense_Mutation_p.V850M|TNRC6C_uc002jue.2_Missense_Mutation_p.V850M	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	853	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding	p.P852P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGAGCCGCCGGTGGCATTTGG	0.597000														25			9		0	0	0.000274275	0	0
DSC1	1823	broad.mit.edu	37	18	28725728	28725728	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:28725728C>T	uc002kwn.3	-	6	1047	c.785G>A	c.(784-786)gGa>gAa	p.G262E	DSC1_uc002kwm.3_Missense_Mutation_p.G262E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	262	Cadherin 2.				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)			GGTCACTTTTCCCACTGAAGT	0.353000														65			27		0	0	0.00209593	0	0
ACOT11	26027	broad.mit.edu	37	1	55063063	55063063	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:55063063G>A	uc001cxm.2	+	6	915	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ACOT11_uc001cxj.2_Missense_Mutation_p.E125K|ACOT11_uc001cxk.3_Missense_Mutation_p.E213K|ACOT11_uc001cxl.2_Missense_Mutation_p.E247K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	247	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GGCCTGGATGGAGAATGTGGC	0.642000														21			4		0	0	0.00024832	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762778	31762778	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:31762778G>A	uc001wrf.4	-	35	6059	c.5874C>T	c.(5872-5874)tcC>tcT	p.S1958S	HEATR5A_uc010ami.3_Silent_p.S1488S	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1952							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCAAAAGGAAGGAAATGAGGA	0.378000														52			20		0	0	0.00121646	0	0
OR10G3	26533	broad.mit.edu	37	14	22038356	22038356	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:22038356G>A	uc010tmb.2	-	0	520	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TAATCCACCTGATTGGGCCCA	0.572000														75			39		0	0	0.00111076	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837191	12837191	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:12837191G>A	uc001aui.3	+	2	928	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	301										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTAATGACCGAATGCCTGCT	0.547000														146			41		0	0	0.000680045	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595018	140595018	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:140595018C>T	uc003lja.1	+	0	1510	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGATCGCCGATGTCA	0.552000														47			39		0	0	0.00111076	0	0
YSK4	80122	broad.mit.edu	37	2	135738822	135738822	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:135738822G>A	uc002tue.1	-	8	3520	c.3489C>T	c.(3487-3489)ttC>ttT	p.F1163F	YSK4_uc002tuf.1_Silent_p.F345F|YSK4_uc010fnc.1_Silent_p.F297F|YSK4_uc010fnd.1_Silent_p.F1050F|YSK4_uc010zbg.1_Silent_p.F295F|YSK4_uc021vpz.1_Silent_p.F24F|YSK4_uc002tuh.4_Silent_p.F891F|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1163	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATATTTACAGAACACCATCT	0.403000														87			31		0	0	0.00178596	0	0
KIF2B	84643	broad.mit.edu	37	17	51901905	51901905	+	Missense_Mutation	SNP	G	A	A	rs143245314	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:51901905G>A	uc002iua.2	+	0	1667	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	504					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R504W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGGTGCTCCGGGACTCCTTT	0.473000														45			13		0	0	0.00244969	0	0
OLFM4	10562	broad.mit.edu	37	13	53608491	53608491	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:53608491C>T	uc001vhl.3	+	1	309	c.213C>T	c.(211-213)tcC>tcT	p.S71S	OLFM4_uc001vhk.2_Silent_p.S71S	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	71	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGTTGTTTTCCAATTTCACCG	0.478000														79			24		0	0	0.000586117	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234136	61234136	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:61234136G>A	uc010xeo.2	+	6	1170	c.1170G>A	c.(1168-1170)agG>agA	p.R390R	SERPINB12_uc010xen.2_Silent_p.R370R	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	370					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.R370R(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTCGGAAAGGTCACTACGAT	0.453000														78			20		0	0	0.000958276	0	0
PARVG	64098	broad.mit.edu	37	22	44585106	44585107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:44585106_44585107GG>AA	uc011aqe.2	+	5	784_785	c.360_361GG>AA	c.(358-363)gaggag>gaAAag	p.E121K	PARVG_uc003bep.3_Missense_Mutation_p.E121K|PARVG_uc011aqf.2_Missense_Mutation_p.E121K|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	121	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGCAGCTGGAGGAGTGGCAGGC	0.634000														41			7		0	0	6.4e-05	0	0
LAMA3	3909	broad.mit.edu	37	18	21487794	21487794	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:21487794G>A	uc002kuq.3	+	53	6996	c.6910G>A	c.(6910-6912)Gat>Aat	p.D2304N	LAMA3_uc002kur.3_Missense_Mutation_p.D2248N|LAMA3_uc002kus.4_Missense_Mutation_p.D695N|LAMA3_uc002kut.4_Missense_Mutation_p.D639N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2304	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGTTCTGGATGGGCTCAA	0.458000														80			35		0	0	0.00058488	0	0
SNAPC1	6617	broad.mit.edu	37	14	62259558	62259558	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:62259558C>T	uc001xft.3	+	8	1114	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	337					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GAAGATAAACCTTTAAGTCTG	0.289000														94			42		0	0	0.00222228	0	0
TMEM11	8834	broad.mit.edu	37	17	21101819	21101819	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:21101819T>C	uc002gyp.2	-	1	840	c.397A>G	c.(397-399)Aag>Gag	p.K133E	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	Homo sapiens transmembrane protein 11 (TMEM11), transcript variant 1, mRNA.	133					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACTTGGTACTTGCAGCAAGGG	0.592000														72			24		0	0	0.00229938	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913198	29913198	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:29913198G>A	uc002dut.3	+	0	1052	c.906G>A	c.(904-906)gaG>gaA	p.E302E	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	302					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCCGGCTCGAGGGCCGCTGTG	0.637000														33			12		0	0	0.00244969	0	0
ATP13A4	84239	broad.mit.edu	37	3	193151704	193151704	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:193151704C>T	uc003ftd.3	-	24	2880	c.2772G>A	c.(2770-2772)gaG>gaA	p.E924E	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	924					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCTGTTTGTCTCCTGAAAAT	0.333000														78			8		0	0	0.000673444	0	0
BCL11A	53335	broad.mit.edu	37	2	60689097	60689097	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:60689097C>A	uc002sae.1	-	3	1178	c.950G>T	c.(949-951)aGg>aTg	p.R317M	BCL11A_uc002sab.3_Missense_Mutation_p.R317M|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.R283M|BCL11A_uc002sad.1_Missense_Mutation_p.R165M|BCL11A_uc002saf.1_Missense_Mutation_p.R283M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	317	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCTAAGTCTCCTAGAGAAATC	0.602000			T	IGH@	B-CLL									475			10		0.00136819	0.0062792	0.00136819	1	0
LAD1	3898	broad.mit.edu	37	1	201352246	201352246	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:201352246C>T	uc001gwm.3	-	6	1577	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	448						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCGCCAGTTCCTTCTCAAAG	0.592000														102			47		0	0	0.0025221	0	0
UBASH3A	53347	broad.mit.edu	37	21	43846841	43846841	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:43846841C>T	uc002zbe.3	+	7	1166	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	UBASH3A_uc002zbf.3_Missense_Mutation_p.S323F|UBASH3A_uc010gpe.3_Missense_Mutation_p.S323F|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	361						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GACCTGAACTCCAGAAAGGAT	0.517000														58			21		0	0	0.00229938	0	0
FRMPD1	22844	broad.mit.edu	37	9	37692733	37692733	+	Missense_Mutation	SNP	C	T	T	rs3747540		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:37692733C>T	uc004aag.1	+	1	139	c.95C>T	c.(94-96)tCg>tTg	p.S32L	FRMPD1_uc004aah.1_Missense_Mutation_p.S32L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	32						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CGGGACAGCTCGGCCCGGTAA	0.547000														29			14		0	0	0.00244969	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534972	96534972	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:96534972G>A	uc010qnz.2	+	1	326	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G87E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	109					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTAACAGAGGATTTGGTAGG	0.517000														89			21		0	0	0.00152264	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431313	38431313	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:38431313G>A	uc003jlc.2	+	14	2435	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E697K|EGFLAM_uc003jle.2_Missense_Mutation_p.E463K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E63K	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	697	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAACTGGCACGAGCTTCGTGT	0.448000														48			16		0	0	0.00074312	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079155	15079155	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:15079155C>T	uc002naa.1	-	2	515	c.508G>A	c.(508-510)Gag>Aag	p.E170K	SLC1A6_uc010dzu.1_Missense_Mutation_p.E170K|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Missense_Mutation_p.E170K|SLC1A6_uc002nac.3_Missense_Mutation_p.E170K|SLC1A6_uc002nad.1_Missense_Mutation_p.E170K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	170					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGGATGGTCTCGATCCGGCCC	0.522000														25			5		0	0	0.00116845	0	0
P2RX1	5023	broad.mit.edu	37	17	3802970	3802970	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:3802970C>T	uc002fww.3	-	7	1274	c.833G>A	c.(832-834)gGg>gAg	p.G278E		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	278					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TTCGTACAGCCCATGGAACTC	0.562000														46			21		0	0	0.00188189	0	0
GGCX	2677	broad.mit.edu	37	2	85782649	85782649	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:85782649G>A	uc002sps.3	-	5	789	c.683C>T	c.(682-684)tCc>tTc	p.S228F	GGCX_uc010yss.2_Missense_Mutation_p.S67F|GGCX_uc010yst.2_Missense_Mutation_p.S171F	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	228					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ATATTCCATGGAATAGCCTTC	0.463000														65			20		0	0	0.00152264	0	0
GUSB	2990	broad.mit.edu	37	7	65425996	65425997	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:65425996_65425997GG>AA	uc003tun.3	-	11	1974_1975	c.1843_1844CC>TT	c.(1843-1845)cca>TTa	p.P615L	GUSB_uc011kdt.2_Missense_Mutation_p.P469L	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	615					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCACTTTTTGGTTGTCTCTGC	0.441000														239			64		0	0	6.4e-05	0	0
TAOK3	51347	broad.mit.edu	37	12	118673365	118673365	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:118673365G>A	uc001twx.3	-	7	844	c.549C>T	c.(547-549)taC>taT	p.Y183Y	TAOK3_uc001tww.3_Silent_p.Y13Y|TAOK3_uc001twy.4_Silent_p.Y183Y	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	183	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTACATACCAGTAAGGTGTGC	0.418000														63			16		0	0	0.000958276	0	0
NLRP12	91662	broad.mit.edu	37	19	54327308	54327308	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:54327308C>T	uc002qcj.4	-	0	341	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	NLRP12_uc002qch.4_Missense_Mutation_p.G41S|NLRP12_uc002qci.4_Missense_Mutation_p.G41S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G41S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	41	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGATCTTGCCTTCTCCCAGC	0.602000														47			21		0	0	0.00188189	0	0
ZNF77	58492	broad.mit.edu	37	19	2933969	2933969	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:2933969C>A	uc002lws.4	-	3	1287	c.1156G>T	c.(1156-1158)Ggg>Tgg	p.G386W		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCTTCCCACACTGCTTG	0.502000														84			5		0.00198382	0.00908949	0.00198382	1	0
SCG2	7857	broad.mit.edu	37	2	224462908	224462908	+	Silent	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:224462908A>G	uc021vxk.1	-	0	1093	c.1093T>C	c.(1093-1095)Tta>Cta	p.L365L	SCG2_uc002vnm.3_Silent_p.L365L	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	365					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCTCAATTAAGTCTTCTGGG	0.468000														70			17		0	0	0.000422831	0	0
SEC23IP	11196	broad.mit.edu	37	10	121668556	121668556	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:121668556G>A	uc001leu.2	+	4	1315	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	SEC23IP_uc010qtc.2_Missense_Mutation_p.E158K	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	369					Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATTATAGGCTGAATATAAAAA	0.363000														38			11		0	0	0.00136819	0	0
ZFP42	132625	broad.mit.edu	37	4	188924208	188924208	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:188924208C>T	uc003izh.1	+	3	655	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	ZFP42_uc003izi.1_Nonsense_Mutation_p.Q83*|ZFP42_uc021xvm.1_Nonsense_Mutation_p.Q83*	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	83					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGAGTTTTCTCAACCCATCCT	0.463000														61			16		0	0	0.000422831	0	0
MUC5B	727897	broad.mit.edu	37	11	1161987	1161987	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:1161987C>T	uc021qbr.1	+	13	1625	c.1578C>T	c.(1576-1578)acC>acT	p.T526T				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	517	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAACGTCACCATCTTCAGAC	0.637000														58			14		0	0	0.000566183	0	0
GRM5	2915	broad.mit.edu	37	11	88780869	88780869	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:88780869C>T	uc001pcq.3	-	0	372	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	GRM5_uc009yvm.3_Missense_Mutation_p.G58R|GRM5_uc009yvn.2_Missense_Mutation_p.G58R	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	58					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGGACCGCCCCACACTTCCTC	0.522000														37			17		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	8969281	8969281	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:8969281C>T	uc002mkp.3	-	78	43267	c.43063G>A	c.(43063-43065)Gat>Aat	p.D14355N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D1155N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14451	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACCGCATCCTCAATATTC	0.473000														88			34		0	0	0.00058488	0	0
DNAH3	55567	broad.mit.edu	37	16	20976343	20976344	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:20976343_20976344CC>TT	uc010vbe.2	-	52	8862_8863	c.8862_8863GG>AA	c.(8860-8865)gaggaa>gaAAaa	p.E2955K	DNAH3_uc010vbd.2_Missense_Mutation_p.E390K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2955	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2954E(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAATGTTTTCCTCCAAGTCCT	0.510000														153			41		0	0	6.4e-05	0	0
THUMPD2	80745	broad.mit.edu	37	2	39998751	39998751	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:39998751G>A	uc002rru.2	-	1	193	c.156C>T	c.(154-156)ttC>ttT	p.F52F	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_5'UTR|THUMPD2_uc010ynu.1_Silent_p.F52F	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	52							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACAGGTGGTGAAAAAAACCT	0.289000														64			18		0	0	0.000566183	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834725	74834725	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:74834725C>T	uc001dge.2	+	15	1711	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	FPGT-TNNI3K_uc001dgc.2_Silent_p.L548L|FPGT-TNNI3K_uc001dgd.3_Silent_p.L548L|FPGT-TNNI3K_uc001dgf.2_Silent_p.L447L	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	447	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATATTCTCCTCCTAAGAGCTG	0.323000														31			9		0	0	0.00136819	0	0
CPN1	1369	broad.mit.edu	37	10	101829562	101829562	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:101829562T>C	uc001kql.2	-	2	745	c.485A>G	c.(484-486)aAc>aGc	p.N162S		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	162	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCAGGGAAGTTGCGGTTCAG	0.463000														100			25		0	0	0.000720815	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317817	30317817	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:30317817G>A	uc009xle.2	-	2	1397	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	KIAA1462_uc001iux.3_Silent_p.F420F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.F282F	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	420										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTACTGAACGAAGCCGTCAT	0.522000														82			32		0	0	0.00178596	0	0
DAXX	1616	broad.mit.edu	37	6	33287991	33287991	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:33287991C>T	uc003oec.3	-	4	1466	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.G421E|DAXX_uc021ywo.1_Missense_Mutation_p.G421E|DAXX_uc011dre.2_Missense_Mutation_p.G433E|DAXX_uc003oed.3_Missense_Mutation_p.G421E|DAXX_uc011drd.2_Missense_Mutation_p.G346E|DAXX_uc010juw.2_3'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	421	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGATGCCATTCCACTAGGGCC	0.537000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									81			24		0	0	0.001512	0	0
ZNF831	128611	broad.mit.edu	37	20	57768629	57768629	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:57768629C>T	uc002yan.3	+	0	2555	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	852						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGCCTGCCTCTTTGTCATCC	0.642000														53			19		0	0	0.00152264	0	0
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:56380724G>A	uc001nja.1	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448000														110			26		0	0	0.000586117	0	0
POU6F1	5463	broad.mit.edu	37	12	51584204	51584204	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:51584204C>T	uc001rxy.3	-	4	924	c.732G>A	c.(730-732)caG>caA	p.Q244Q	POU6F1_uc001rxz.3_Silent_p.Q244Q|POU6F1_uc001rya.3_Silent_p.Q244Q	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	244					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.Q244fs*3(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCTCTATGGCCTGGGGGGTGA	0.557000														123			31		0	0	0.00209593	0	0
CARD10	29775	broad.mit.edu	37	22	37906324	37906324	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:37906324C>T	uc003asx.1	-	3	821	c.804G>A	c.(802-804)aaG>aaA	p.K268K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Silent_p.K268K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	268					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					tctccttctccttctccttct	0.617000														29			14		0	0	0.00185496	0	0
NCAN	1463	broad.mit.edu	37	19	19359601	19359601	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:19359601T>G	uc002nlz.3	+	13	3829	c.3730T>G	c.(3730-3732)Tgc>Ggc	p.C1244G	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1244	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AAGGTACCAGTGCAATGAAGG	0.562000														53			16		0	0	0.000308642	0	0
ZNF831	128611	broad.mit.edu	37	20	57769536	57769536	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:57769536C>T	uc002yan.3	+	0	3462	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1154						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTTGTCTTCCCACTCAGGGA	0.682000														50			22		0	0	0.00278032	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161159	48161159	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:48161159C>T	uc001ngp.4	+	10	2629	c.2274C>T	c.(2272-2274)gcC>gcT	p.A758A	PTPRJ_uc010rhr.1_Silent_p.A203A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	758	Fibronectin type-III 8.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGTGGAGCCTGGAACAATG	0.537000														48			19		0	0	0.00229938	0	0
DNAH8	1769	broad.mit.edu	37	6	38709588	38709588	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:38709588C>T	uc021yzh.1	+	7	1327	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	DNAH8_uc003ooe.2_Silent_p.I189I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAACTATATCATTGAGCAGA	0.388000														44			15		0	0	0.000422831	0	0
TTLL10	254173	broad.mit.edu	37	1	1120465	1120465	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:1120465G>A	uc001acy.2	+	12	1528	c.1377G>A	c.(1375-1377)aaG>aaA	p.K459K	TTLL10_uc010nyg.1_Silent_p.K459K|TTLL10_uc001acz.2_Silent_p.K386K	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	459	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTCGCCAAGGACTGGGTCT	0.637000														22			6		0	0	0.00116845	0	0
FAM196A	642938	broad.mit.edu	37	10	128973494	128973494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:128973494C>T	uc001lju.1	-	0	1207	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.G389E|FAM196A_uc001ljv.1_Missense_Mutation_p.G389E|FAM196A_uc009yap.1_Missense_Mutation_p.G389E	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	389										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATGGGCCTCTCCTTTTTCCAA	0.488000														148			40		0	0	0.000680045	0	0
N4BP2	55728	broad.mit.edu	37	4	40104765	40104765	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:40104765A>C	uc003guy.4	+	3	1638	c.1300A>C	c.(1300-1302)Aag>Cag	p.K434Q	N4BP2_uc010ifq.3_Missense_Mutation_p.K354Q|N4BP2_uc010ifr.3_Missense_Mutation_p.K354Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	434						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTAAGAAAGAAGACATCTTA	0.378000														92			4		0	0	0.00198382	0	0
CCDC37	348807	broad.mit.edu	37	3	126137359	126137359	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:126137359C>T	uc010hsg.1	+	4	539	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CCDC37_uc003eiu.1_Silent_p.F159F	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	159										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCAAATGTTCCTCCTCCAGG	0.612000														22			7		0	0	0.000157383	0	0
RSF1	51773	broad.mit.edu	37	11	77378461	77378461	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:77378461C>T	uc001oyn.3	-	15	3947	c.3827G>A	c.(3826-3828)cGa>cAa	p.R1276Q	RSF1_uc001oym.3_Missense_Mutation_p.R1024Q	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1276					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R1276*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTCTGTGCTTCGGCCCCGCTT	0.493000														75			29		0	0	0.0024448	0	0
USP26	83844	broad.mit.edu	37	X	132160255	132160255	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:132160255G>A	uc011mvf.2	-	0	2046	c.1994C>T	c.(1993-1995)tCa>tTa	p.S665L	USP26_uc010nrm.1_Missense_Mutation_p.S665L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	665					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGACAAAGTGAGGTATCTTC	0.428000														31			32		0	0	0.00283554	0	0
PPP1R10	5514	broad.mit.edu	37	6	30577733	30577733	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:30577733C>T	uc003nqn.1	-	3	542	c.-10_splice	c.e3-1		PPP1R10_uc010jsc.1_Splice_Site	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.						protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATGGTGGTTTCTATGGTAAGA	0.468000														50			22		0	0	0.00229938	0	0
MUC17	140453	broad.mit.edu	37	7	100684970	100684970	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:100684970G>A	uc003uxp.1	+	2	10326	c.10273G>A	c.(10273-10275)Gac>Aac	p.D3425N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3425	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V3424V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTGGACTCCAACAC	0.502000														196			65		0	0	0.000781405	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769601	15769601	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:15769601C>T	uc010xok.2	+	11	1429	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	CYP4F3_uc010xol.2_Missense_Mutation_p.P460L|CYP4F3_uc002nbj.3_Missense_Mutation_p.P460L|CYP4F3_uc010xom.2_Missense_Mutation_p.P311L|CYP4F3_uc002nbk.3_Missense_Mutation_p.P460L|CYP4F3_uc010xon.2_Missense_Mutation_p.P170L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	460					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTTTTATTCCCTTCTCAGCA	0.582000														115			35		0	0	0.000953801	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877250	53877250	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:53877250C>T	uc001sdn.2	-	9	1767	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	MAP3K12_uc001sdm.2_Missense_Mutation_p.R466Q	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	466					JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGGGCACCTCCGCTCTAAAGC	0.572000														69			19		0	0	0.00121646	0	0
HMCN1	83872	broad.mit.edu	37	1	186043883	186043883	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:186043883C>T	uc001grq.1	+	52	8379	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2717	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCTTAAATCCGATGATCAT	0.353000														38			11		0	0	0.00136819	0	0
TOR3A	64222	broad.mit.edu	37	1	179064332	179064332	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:179064332G>A	uc001gmd.3	+	5	1325	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	TOR3A_uc010pnd.2_Silent_p.R175R	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	Homo sapiens torsin family 3, member A (TOR3A), mRNA.	391					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTCCCAGAGGATTAACTACT	0.488000														151			46		0	0	0.000781405	0	0
BCL11B	64919	broad.mit.edu	37	14	99723868	99723868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:99723868C>T	uc001yga.3	-	1	634	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BCL11B_uc001ygb.3_Missense_Mutation_p.E123K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	123						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGTCATCTTCGTCGGGGGTG	0.607000			T	TLX3	T-ALL									118			7		0	0	0.00198382	0	0
ABCA13	154664	broad.mit.edu	37	7	48273685	48273685	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:48273685C>T	uc003toq.2	+	7	858	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	278					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCTCAAATCCCAGTTTGGCT	0.463000														51			25		0	0	0.000586117	0	0
CD96	10225	broad.mit.edu	37	3	111263901	111263901	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:111263901G>A	uc003dxw.3	+	1	240	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	CD96_uc003dxv.3_Missense_Mutation_p.E24K|CD96_uc003dxx.3_Missense_Mutation_p.E24K|CD96_uc010hpy.1_Missense_Mutation_p.E24K	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.E24K(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGAGTTTGGGAAAAAACAGT	0.403000									Opitz Trigonocephaly syndrome					96			21		0	0	0.00188189	0	0
RGS11	8786	broad.mit.edu	37	16	320597	320597	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:320597G>A	uc002cgj.1	-	14	1134	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.T356T|RGS11_uc010bqs.1_Silent_p.T366T|RGS11_uc002cgk.1_Silent_p.T193T	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	377	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCTCCAGGGTCTGCTCCA	0.657000														11			7		0	0	0.000157383	0	0
FAM82A2	55177	broad.mit.edu	37	15	41044348	41044348	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:41044348C>T	uc001zmp.1	-	2	401	c.216G>A	c.(214-216)ggG>ggA	p.G72G	FAM82A2_uc001zmo.1_Silent_p.G72G|FAM82A2_uc001zmq.1_Silent_p.G72G	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	72					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CATCTCCAGCCCCACCTGGGA	0.607000														19			9		0	0	0.000978159	0	0
MAP1A	4130	broad.mit.edu	37	15	43816125	43816125	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:43816125C>T	uc001zrt.3	+	3	2921	c.2454C>T	c.(2452-2454)gcC>gcT	p.A818A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	818						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TAGTGGCTGCCCCTTTGGCTG	0.522000														34			16		0	0	0.000566183	0	0
SLC16A8	23539	broad.mit.edu	37	22	38474436	38474436	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:38474436C>T	uc003auu.3	-	4	1604	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K		NM_013356	NP_037488	O95907	MOT3_HUMAN	Homo sapiens solute carrier family 16, member 8 (monocarboxylic acid transporter 3) (SLC16A8), mRNA.	492					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	GCCTCTATTTCTGGTTCTGTG	0.632000														64			29		0	0	0.00106085	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676798	7676798	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:7676798C>T	uc002mgu.4	+	12	1601	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	CAMSAP3_uc002mgv.4_Silent_p.L473L|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	473	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCCCCGGCTCCTCCCAGATG	0.716000														15			12		0	0	0.00185496	0	0
PARD3	56288	broad.mit.edu	37	10	34400253	34400253	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:34400253C>A	uc010qej.2	-	24	4245	c.3915G>T	c.(3913-3915)gaG>gaT	p.E1305D	PARD3_uc010qep.2_Missense_Mutation_p.E1215D|PARD3_uc010qeq.2_Missense_Mutation_p.E1193D|PARD3_uc010qek.2_Missense_Mutation_p.E1302D|PARD3_uc010qel.2_Missense_Mutation_p.E1268D|PARD3_uc010qem.2_Missense_Mutation_p.E1289D|PARD3_uc010qen.2_Missense_Mutation_p.E1259D|PARD3_uc010qeo.2_Missense_Mutation_p.E1222D	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1305					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGCTGGGCCCCTCGGAAGGAG	0.602000														52			17		0.000566183	0.00260275	0.000566183	1	0
JAG1	182	broad.mit.edu	37	20	10653613	10653614	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:10653613_10653614GG>AA	uc002wnw.2	-	1	638_639	c.122_123CC>TT	c.(121-123)tcc>tTT	p.S41F		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	41					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CGTTCTGCATGGACAGGATCTC	0.619000									Alagille Syndrome					48			7		0	0	6.4e-05	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886630	9886630	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:9886630C>T	uc002koi.4	+	1	603	c.154C>T	c.(154-156)Cta>Tta	p.L52L	TXNDC2_uc002koh.4_5'UTR|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	52					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCTCCTGGCCCTAGAGTTCTT	0.438000														66			15		0	0	0.00074312	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513354	76513354	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:76513354G>A	uc002fex.1	+	10	1949	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G600R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G465R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G528R|CNTNAP4_uc002few.2_Missense_Mutation_p.G576R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	601	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAGCACAGAGGAAATACTTC	0.333000														177			50		0	0	0.000781405	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229154	38229154	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:38229154G>A	uc001zjw.3	+	2	349	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TMCO5A_uc001zjv.1_Missense_Mutation_p.E83K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E83K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	83						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGAGCTGGAGGAAGAAACAGC	0.478000														36			12		0	0	0.000308642	0	0
MTMR2	8898	broad.mit.edu	37	11	95590720	95590721	+	Nonsense_Mutation	DNP	CT	TA	TA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:95590720_95590721CT>TA	uc001pfu.3	-	6	902_903	c.649_650AG>TA	c.(649-651)agg>TAg	p.R217*	MTMR2_uc001pfv.3_Nonsense_Mutation_p.R145*|MTMR2_uc001pfs.3_Nonsense_Mutation_p.R145*|MTMR2_uc001pft.3_Nonsense_Mutation_p.R145*|MTMR2_uc010ruj.1_Nonsense_Mutation_p.R200*	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	217	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATACCTGCCTTCTATACTCT	0.342000														42			13		0	0	6.4e-05	0	0
MAP1A	4130	broad.mit.edu	37	15	43819889	43819889	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:43819889C>T	uc001zrt.3	+	3	6685	c.6218C>T	c.(6217-6219)cCa>cTa	p.P2073L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2073						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAAAGGCCCAAGCCCCCCT	0.617000														21			5		0	0	0.00116845	0	0
DAGLA	747	broad.mit.edu	37	11	61503251	61503251	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:61503251C>T	uc001nsa.3	+	11	1369	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	418					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGCGCCTCCCCGTGGAGGGG	0.662000														13			9		0	0	0.000442599	0	0
HCN2	610	broad.mit.edu	37	19	590557	590557	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:590557C>T	uc002lpe.3	+	0	665	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	204	Involved in subunit assembly (By similarity).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGATCATCCACCCGTACA	0.731000														14			10		0	0	0.000442599	0	0
STX6	10228	broad.mit.edu	37	1	180974451	180974451	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:180974451C>T	uc021pfr.1	-	1	421	c.184G>A	c.(184-186)Gag>Aag	p.E62K	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	62					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTCCTCTAGATCCCAC	0.473000														143			42		0	0	0.000781405	0	0
GRIN1	2902	broad.mit.edu	37	9	140040228	140040228	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:140040228C>T	uc004clk.3	+	2	774	c.444C>T	c.(442-444)tcC>tcT	p.S148S	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Silent_p.S145S|GRIN1_uc004cln.3_Silent_p.S148S|GRIN1_uc004clo.3_Silent_p.S148S|GRIN1_uc004clm.3_Silent_p.S148S|GRIN1_uc004cll.3_Silent_p.S148S	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	148					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCACCAGTCCAGCGTGTGGT	0.677000														33			7		0	0	0.000157383	0	0
COL4A4	1286	broad.mit.edu	37	2	227915811	227915811	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227915811C>T	uc021vxr.1	-	31	3133	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1011E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1011	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTGTGAAATCCAGGTGGTCC	0.547000														116			39		0	0	0.00111076	0	0
OR13C5	138799	broad.mit.edu	37	9	107361685	107361685	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:107361685C>T	uc011lvp.2	-	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTGGTTTTCCCATTCCATT	0.363000														41			25		0	0	0.00127121	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671263	7671263	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:7671263T>A	uc002mgu.4	+	2	610	c.509T>A	c.(508-510)cTt>cAt	p.L170H	CAMSAP3_uc002mgv.4_Missense_Mutation_p.L170H	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	170	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACAAGCTGCTTTTCTGGGTG	0.627000														55			11		0	0	0.00136819	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285056	42285056	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:42285056G>A	uc021sjp.1	-	12	1349	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.S74F	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	438	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGGAACAGGGAGGGTAGCTT	0.562000														31			11		0	0	0.000978159	0	0
DMBT1	1755	broad.mit.edu	37	10	124402817	124402817	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:124402817C>T	uc001lgk.1	+	52	7251	c.7145C>T	c.(7144-7146)tCg>tTg	p.S2382L	DMBT1_uc001lgl.1_Missense_Mutation_p.S2372L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1754L|DMBT1_uc021qaf.1_Missense_Mutation_p.S2382L|DMBT1_uc021qag.1_Missense_Mutation_p.S2372L|DMBT1_uc021qah.1_Missense_Mutation_p.S1754L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2381L|DMBT1_uc010qtx.1_Missense_Mutation_p.S1102L|DMBT1_uc009yab.1_Missense_Mutation_p.S1085L|DMBT1_uc009yac.1_Missense_Mutation_p.S676L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2382					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGTTGAGGTCGAAGAGGGAT	0.607000														70			22		0	0	0.00047179	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520981	175520981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:175520981G>A	uc003fit.3	+	13	2465	c.2378G>A	c.(2377-2379)gGg>gAg	p.G793E		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	793					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTCTTGGATGGGAAGAATTGA	0.378000														37			20		0	0	0.000958276	0	0
MORN1	79906	broad.mit.edu	37	1	2290117	2290117	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:2290117G>A	uc001ajb.1	-	8	804	c.783C>T	c.(781-783)gtC>gtT	p.V261V	MORN1_uc009vld.3_Silent_p.V237V|MORN1_uc001ajd.1_Silent_p.V261V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	261										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCACGTATCTGACGCCCGCTG	0.587000														18			7		0	0	0.00198382	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433138	204433138	+	Splice_Site	SNP	A	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:204433138A>C	uc001haw.3	-	6	1789	c.1310_splice	c.e6+1	p.N437_splice	PIK3C2B_uc010pqv.2_Splice_Site_p.N437_splice|PIK3C2B_uc001hax.1_Splice_Site_p.N437_splice|PIK3C2B_uc009xbd.1_Splice_Site	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	437					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCATTCACTCACTTCTGCAGG	0.582000														79			22		0	0	0.00047179	0	0
SYT9	143425	broad.mit.edu	37	11	7324553	7324553	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:7324553G>A	uc001mfe.3	+	1	666	c.429G>A	c.(427-429)ggG>ggA	p.G143G	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	143						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G143E(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCAGACGGGGATCCAGGAGA	0.597000														10			8		0	0	0.000157383	0	0
VEGFA	7422	broad.mit.edu	37	6	43749694	43749694	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:43749694C>T	uc003owh.3	+	7	1584	c.1086_splice	c.e7-1	p.H362_splice	VEGFA_uc003owd.3_Splice_Site_p.N321_splice|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Splice_Site_p.V345_splice|VEGFA_uc003owg.3_Splice_Site_p.R339_splice|VEGFA_uc003owe.3_Splice_Site_p.N321_splice|VEGFA_uc021yzu.1_Intron|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Splice_Site_p.N321_splice|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	182					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TTTTTGCAGTCCCTGTGGGCC	0.483000														39			16		0	0	0.00074312	0	0
LMNB2	84823	broad.mit.edu	37	19	2456692	2456692	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:2456692C>T	uc002lvy.3	-	0	267	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	60	Coil 1A.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTCCTTCTCTGAGATCT	0.741000														25			6		0	0	0.00116845	0	0
MLL2	8085	broad.mit.edu	37	12	49445649	49445649	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:49445649G>A	uc001rta.4	-	9	1817	c.1817C>T	c.(1816-1818)tCt>tTt	p.S606F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	606	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGACAGAGGAGACTCTTCAAA	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				65			20		0	0	0.00121646	0	0
ZNF683	257101	broad.mit.edu	37	1	26694985	26694985	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:26694985G>A	uc001bmg.1	-	1	196	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ZNF683_uc001bmh.1_Silent_p.S26S|ZNF683_uc009vsj.1_Silent_p.S26S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCAGGCTGGGGGACAGGGAGC	0.537000														85			33		0	0	0.00283554	0	0
FBXL5	26234	broad.mit.edu	37	4	15614011	15614012	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:15614011_15614012GG>AA	uc003goc.2	-	9	2001_2002	c.1876_1877CC>TT	c.(1876-1878)cct>TTt	p.P626F	FBXL5_uc010idw.2_Missense_Mutation_p.P539F|FBXL5_uc003gob.2_Missense_Mutation_p.P488F|FBXL5_uc010idx.2_Missense_Mutation_p.P625F|FBXL5_uc003god.2_Missense_Mutation_p.P609F|FBXL5_uc010idy.2_Missense_Mutation_p.P626F	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	626					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCCAAATAAGGCAGCCCTCCT	0.386000														37			16		0	0	6.4e-05	0	0
FGL2	10875	broad.mit.edu	37	7	76828570	76828570	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:76828570T>C	uc003ugb.3	-	0	581	c.541A>G	c.(541-543)Aca>Gca	p.T181A	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	181					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACAACAAATGTTAGATTTGCC	0.358000														71			24		0	0	0.00278032	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366132	37366132	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:37366132G>A	uc003cgv.3	+	13	3115	c.2755G>A	c.(2755-2757)Gga>Aga	p.G919R	GOLGA4_uc010hgr.2_Missense_Mutation_p.G480R|GOLGA4_uc003cgw.3_Missense_Mutation_p.G941R|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.G800R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	919	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AATGAGAGAAGGACAGAAGAA	0.343000														47			15		0	0	0.000308642	0	0
KRBA1	84626	broad.mit.edu	37	7	149430494	149430494	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:149430494C>T	uc003wfz.3	+	17	2847	c.2448C>T	c.(2446-2448)ctC>ctT	p.L816L	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.L424L	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	817										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGATCGGCTCGCCACAGCGC	0.692000														13			7		0	0	0.00198382	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757098	56757098	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:56757098C>T	uc010rjp.2	+	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AGGAAAAAATCCTTCTCAACA	0.418000														84			28		0	0	0.00106085	0	0
ABCA13	154664	broad.mit.edu	37	7	48312792	48312792	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:48312792C>T	uc003toq.2	+	16	3553	c.3529C>T	c.(3529-3531)Cat>Tat	p.H1177Y	ABCA13_uc010kyr.2_Missense_Mutation_p.H680Y|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1177					transport	integral to membrane	ATP binding|ATPase activity	p.L1176P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCTCTTCATCATGGTTTCAC	0.378000														57			27		0	0	0.000586117	0	0
ODZ1	10178	broad.mit.edu	37	X	123805602	123805602	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:123805602C>T	uc010nqy.3	-	5	1163	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	ODZ1_uc011muj.2_Missense_Mutation_p.G366R|ODZ1_uc004euj.3_Missense_Mutation_p.G367R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	367					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GACTCGGTCCCCCTGTTCCCT	0.438000														52			61		0	0	0.000781405	0	0
TMEM104	54868	broad.mit.edu	37	17	72832595	72832595	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:72832595C>T	uc002jls.4	+	9	1422	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.S420S	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	420						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCTGGAGTCCCTGGTGGGCA	0.677000														44			6		0	0	0.00116845	0	0
BRE	9577	broad.mit.edu	37	2	28467657	28467657	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:28467657G>A	uc002rls.3	+	9	1114	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	BRE_uc002rlp.1_Missense_Mutation_p.E288K|BRE_uc002rlq.3_Missense_Mutation_p.E288K|BRE_uc002rlr.3_Missense_Mutation_p.E288K|BRE_uc002rlt.3_Missense_Mutation_p.E288K|BRE_uc002rlu.3_Missense_Mutation_p.E288K|BRE_uc002rlv.3_Missense_Mutation_p.E150K	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	288	UEV-like 2.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGGTGTCGTGGAATATGATGC	0.333000														61			34		0	0	0.00111076	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303501	5303501	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:5303501C>T	uc003jdl.3	+	18	3048	c.2910C>T	c.(2908-2910)tgC>tgT	p.C970C	ADAMTS16_uc003jdk.1_Silent_p.C970C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	970	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGCCTGTGCCCTCAGCCTG	0.706000														17			6		0	0	0.00116845	0	0
TTC23	64927	broad.mit.edu	37	15	99678314	99678314	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:99678314C>T	uc002bur.3	-	12	1776	c.1245G>A	c.(1243-1245)tcG>tcA	p.S415S	TTC23_uc002bus.3_Silent_p.S415S|TTC23_uc002but.3_Silent_p.S415S|TTC23_uc002buu.3_Silent_p.S415S|TTC23_uc002buv.3_Silent_p.S415S|TTC23_uc002bux.3_Silent_p.S415S|TTC23_uc002buw.3_Silent_p.S415S|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.S415S|TTC23_uc010bor.3_Silent_p.S415S	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	415							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCCTTGGCTTCGAAGCAACCT	0.642000														49			11		0	0	0.000673444	0	0
MYO7A	4647	broad.mit.edu	37	11	76903100	76903100	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:76903100C>T	uc001oyb.2	+	30	4201	c.3929C>T	c.(3928-3930)tCc>tTc	p.S1310F	MYO7A_uc010rsm.1_Missense_Mutation_p.S1299F|MYO7A_uc001oyc.2_Missense_Mutation_p.S1310F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.S521F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1310	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACAGGTGTCCTCCCTGGGC	0.652000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			12		0	0	0.000978159	0	0
MATN2	4147	broad.mit.edu	37	8	98973703	98973703	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:98973703C>T	uc003yic.3	+	4	1134	c.903C>T	c.(901-903)ttC>ttT	p.F301F	MATN2_uc003yib.1_Silent_p.F301F|MATN2_uc010mbh.1_Silent_p.F301F|MATN2_uc003yid.3_Silent_p.F301F|MATN2_uc003yie.1_Silent_p.F301F|MATN2_uc010mbi.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	301	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding	p.F301L(3)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGGGCTCCTTCGTCTGCCAGT	0.557000														73			16		0	0	0.000422831	0	0
SLC2A3	6515	broad.mit.edu	37	12	8085617	8085617	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:8085617A>T	uc001qtr.3	-	2	497	c.235T>A	c.(235-237)Ttt>Att	p.F79I		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	79					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCGACGGAAAAGGAGCCGATC	0.542000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			22		0	0	0.00229938	0	0
HYAL4	23553	broad.mit.edu	37	7	123514836	123514836	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:123514836G>A	uc003vlc.3	+	3	1614	c.976G>A	c.(976-978)Gga>Aga	p.G326R	HYAL4_uc011knz.2_Missense_Mutation_p.G326R	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	326					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAGCACCATAGGAGAAAGTGC	0.438000														62			13		0	0	0.00185496	0	0
PSG9	5678	broad.mit.edu	37	19	43763161	43763161	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:43763161C>T	uc002owd.4	-	3	935	c.836G>A	c.(835-837)aGc>aAc	p.S279N	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.S186N|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	279	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S279R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GACGGGGAGGCTCTGACCGTT	0.463000														222			74		0	0	0.000781405	0	0
MFSD12	126321	broad.mit.edu	37	19	3546112	3546112	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:3546112C>G	uc002lxw.3	-	7	1419	c.1249G>C	c.(1249-1251)Ggg>Cgg	p.G417R	MFSD12_uc002lxx.3_Missense_Mutation_p.G417R|MFSD12_uc002lxy.3_Missense_Mutation_p.G408R|MFSD12_uc002lxz.3_Missense_Mutation_p.G417R	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	417					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ACTGCCAGCCCATTGGCCACC	0.572000														66			23		0	0	0.00278032	0	0
SEMA3G	56920	broad.mit.edu	37	3	52474028	52474028	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:52474028G>A	uc003dea.1	-	10	1230	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	410	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGAGGGGGTGGGCTCGGGCAA	0.647000														82			27		0	0	0.001512	0	0
TAB1	10454	broad.mit.edu	37	22	39770497	39770497	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:39770497C>T	uc003axq.4	+	1	338	c.276C>T	c.(274-276)ttC>ttT	p.F92F	TAB1_uc003axo.4_Silent_p.F92F|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.F93F	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACGTGTACTTCCCGCAGATCA	0.637000														59			25		0	0	0.000586117	0	0
PDC	5132	broad.mit.edu	37	1	186413597	186413597	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:186413597C>T	uc001gsa.3	-	3	328	c.255G>A	c.(253-255)gaG>gaA	p.E85E	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Silent_p.E33E	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	85					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGTTTTCATCCTCTTTCTCTT	0.358000														47			12		0	0	0.000978159	0	0
PRR14	78994	broad.mit.edu	37	16	30666149	30666149	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:30666149C>T	uc002dyy.3	+	7	1116	c.858C>T	c.(856-858)atC>atT	p.I286I	PRR14_uc002dyz.3_Silent_p.I131I|PRR14_uc002dza.3_Silent_p.I286I|PRR14_uc002dzb.1_Silent_p.I100I	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	286	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGTTGAAGATCGCCATCTCAG	0.632000														17			11		0	0	0.000673444	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884007	228884007	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:228884007C>T	uc002vpq.2	-	6	1610	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	SPHKAP_uc002vpp.2_Missense_Mutation_p.M521I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M521I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	521						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCACTTGCTCCATTTTGAGTC	0.517000														46			12		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179656915	179656915	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179656915C>T	uc021vsy.1	-	9	1771	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	TTN_uc021vsz.1_Missense_Mutation_p.E516K|TTN_uc021vta.1_Missense_Mutation_p.E516K|TTN_uc021vtb.1_Missense_Mutation_p.E516K|TTN_uc002unb.2_Missense_Mutation_p.E516K|TTN_uc010frg.1_Missense_Mutation_p.E190K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	516							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAGTTTCTTTTCTTATC	0.279000														39			11		0	0	0.000978159	0	0
LAMA3	3909	broad.mit.edu	37	18	21438687	21438687	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:21438687G>A	uc002kuq.3	+	33	4402	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	LAMA3_uc002kur.3_Missense_Mutation_p.R1439Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1439	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGTGTGTCGAGAAGGCTCA	0.408000														80			30		0	0	0.00283554	0	0
LOC646214	646214	broad.mit.edu	37	15	21937625	21937625	+	RNA	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:21937625C>T	uc010tzj.1	-	0		c.3115G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCGTCCTCCTCCTCTGTCACT	0.498000														95			10		0	0	0.000442599	0	0
XIRP2	129446	broad.mit.edu	37	2	167992545	167992545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:167992545G>A	uc002udx.3	+	2	624	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	XIRP2_uc010fpn.3_Missense_Mutation_p.E179K|XIRP2_uc010fpo.3_Missense_Mutation_p.E179K|XIRP2_uc002udy.3_Missense_Mutation_p.E4K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	4					actin cytoskeleton organization	cell junction	actin binding	p.P178H(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTCACCTGAAAGTGGTCA	0.403000														73			20		0	0	0.00229938	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925877	131925877	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:131925877C>T	uc003vra.4	-	4	1781	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	518	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAAGGCACTCGCCGCAGCTC	0.597000														49			15		0	0	0.000422831	0	0
TULP4	56995	broad.mit.edu	37	6	158923521	158923521	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:158923521C>T	uc003qrf.3	+	12	4183	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	942					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCAGTGCCACCCTGAACCGCC	0.687000														41			21		0	0	0.00152264	0	0
NELL1	4745	broad.mit.edu	37	11	20949958	20949958	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:20949958C>T	uc009yid.3	+	9	1167	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	NELL1_uc010rdp.2_Silent_p.P70P|NELL1_uc001mqe.3_Silent_p.P310P|NELL1_uc001mqf.3_Silent_p.P310P|NELL1_uc010rdo.2_Silent_p.P253P	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	310	VWFC 2.				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						TGTCCTGTCCCCCTCTCAATT	0.532000														52			12		0	0	0.00244969	0	0
DUSP8	1850	broad.mit.edu	37	11	1578765	1578765	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:1578765G>A	uc001lts.2	-	6	989	c.861C>T	c.(859-861)ttC>ttT	p.F287F	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	287	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCAGGAAGTTGAAGTTGGGCG	0.726000														17			4		0	0	0.000602214	0	0
OR2M5	127059	broad.mit.edu	37	1	248308467	248308467	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:248308467G>A	uc010pze.2	+	0	18	c.18G>A	c.(16-18)caG>caA	p.Q6Q		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGGAGAATCAGACCTTCAACT	0.428000														241			67		0	0	0.000781405	0	0
ZNF155	7711	broad.mit.edu	37	19	44500360	44500360	+	Silent	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:44500360T>C	uc010xwt.1	+	5	568	c.384T>C	c.(382-384)tcT>tcC	p.S128S	ZNF155_uc002oxy.1_Silent_p.S117S|ZNF155_uc002oxz.1_Silent_p.S117S	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	117						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CTCAGGACTCTATCATAAATA	0.468000														79			9		0	0	0.000442599	0	0
ASTN1	460	broad.mit.edu	37	1	177001974	177001974	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:177001974G>A	uc001glc.3	-	2	695	c.483C>T	c.(481-483)atC>atT	p.I161I	ASTN1_uc001glb.1_Silent_p.I161I|ASTN1_uc001gld.1_Silent_p.I161I|ASTN1_uc009wwx.1_Silent_p.I161I|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	161					cell migration|neuron cell-cell adhesion	integral to membrane		p.M160T(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGCAGAGCGATCATGCCAC	0.582000														44			18		0	0	0.00152264	0	0
TRIM28	10155	broad.mit.edu	37	19	59060795	59060795	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:59060795C>T	uc002qtg.1	+	12	2049	c.1760C>T	c.(1759-1761)gCt>gTt	p.A587V	TRIM28_uc010eut.1_Missense_Mutation_p.A505V|TRIM28_uc002qth.1_Missense_Mutation_p.A202V	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	587					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGTCCTGGTGCTGAGGGTCCC	0.667000														91			26		0	0	0.00127121	0	0
KALRN	8997	broad.mit.edu	37	3	124103806	124103806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:124103806C>T	uc003ehg.3	+	10	2006	c.1879C>T	c.(1879-1881)Caa>Taa	p.Q627*	KALRN_uc010hrv.1_Nonsense_Mutation_p.Q627*|KALRN_uc003ehf.1_Nonsense_Mutation_p.Q627*|KALRN_uc011bjy.1_Nonsense_Mutation_p.Q627*|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	627					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTGCGCATCCAAGACTTCGT	0.577000														41			17		0	0	0.000566183	0	0
MLLT10	8028	broad.mit.edu	37	10	22029049	22029050	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:22029049_22029050CC>TT	uc021pny.1	+	20	3046_3047	c.3046_3047CC>TT	c.(3046-3048)cca>TTa	p.P1016L	MLLT10_uc001iqs.3_Intron|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.P1016L|MLLT10_uc001ira.3_Missense_Mutation_p.P473L|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	0					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATCCCTGGACCAACACAAATA	0.475000			T	"""MLL, PICALM, CDK6"""	AL									40			18		0	0	6.4e-05	0	0
SDK2	54549	broad.mit.edu	37	17	71395316	71395316	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:71395316C>T	uc010dfm.3	-	21	3084	c.3084G>A	c.(3082-3084)gtG>gtA	p.V1028V	SDK2_uc002jjt.4_Silent_p.V187V|SDK2_uc010dfn.2_Silent_p.V707V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1028	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGGGCTTCCACCAGCCAGC	0.627000														40			15		0	0	0.00074312	0	0
PADI3	51702	broad.mit.edu	37	1	17609436	17609436	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:17609436C>T	uc001bai.3	+	15	1897	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	619					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGTGCGGTCCCTGCTGGAGC	0.597000														29			9		0	0	0.000274275	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567378	86567378	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:86567378C>T	uc003ydl.1	-	0	528	c.441G>A	c.(439-441)ttG>ttA	p.L147L		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	504						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						TCTCACAGTCCAAGGCGTAGA	0.602000														130			6		0	0	0.000274275	0	0
DNMT3B	1789	broad.mit.edu	37	20	31389145	31389145	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:31389145G>A	uc002wyc.3	+	18	2379	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	DNMT3B_uc002wyd.3_Silent_p.E666E|DNMT3B_uc002wye.3_Silent_p.E666E|DNMT3B_uc010ztz.2_Silent_p.E624E|DNMT3B_uc010zua.2_Silent_p.E590E|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.E678E|DNMT3B_uc002wyg.3_Silent_p.E385E|DNMT3B_uc010geg.3_5'UTR|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	686					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCAAGGAGGGTGATGACC	0.517000														55			22		0	0	0.00188189	0	0
COL28A1	340267	broad.mit.edu	37	7	7546791	7546791	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:7546791C>T	uc003src.1	-	10	1045	c.928_splice	c.e10-1	p.G310_splice	COL28A1_uc011jxe.1_Splice_Site|COL28A1_uc003srd.3_Splice_Site	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	310	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G310E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCTGGGGATCCCTGTGGAAT	0.408000														101			29		0	0	0.00178596	0	0
CRTAP	10491	broad.mit.edu	37	3	33171484	33171484	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:33171484C>T	uc003cfl.4	+	3	967	c.847C>T	c.(847-849)Cca>Tca	p.P283S	CRTAP_uc010hfz.3_Intron|CRTAP_uc003cfn.3_Missense_Mutation_p.P104S	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	283						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GAACCTCACCCCAGTTATAGG	0.368000														82			24		0	0	0.000720815	0	0
PCLO	27445	broad.mit.edu	37	7	82430905	82430905	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:82430905C>T	uc003uhx.2	-	21	15225	c.14936G>A	c.(14935-14937)gGg>gAg	p.G4979E		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4902	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCCATCTTCCCTCTGTTTAG	0.338000														54			20		0	0	0.00188189	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473809	74473809	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:74473809G>A	uc002jrq.2	-	6	1112	c.818C>T	c.(817-819)gCc>gTc	p.A273V	RHBDF2_uc021udh.1_Missense_Mutation_p.A244V|RHBDF2_uc002jrr.1_Missense_Mutation_p.A125V|RHBDF2_uc010wtf.1_Missense_Mutation_p.A244V|RHBDF2_uc002jrs.1_Missense_Mutation_p.A268V	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	273					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTCGGGAAGGCAAAGCTGCG	0.622000														80			31		0	0	0.00058488	0	0
DNAH5	1767	broad.mit.edu	37	5	13885338	13885338	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:13885338C>T	uc003jfd.2	-	19	2786	c.2744_splice	c.e19-1	p.A915_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	915	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCTTTTTGCTGTTACAAGA	0.373000									Kartagener syndrome					33			13		0	0	0.00185496	0	0
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:202131505C>T	uc002uxr.1	+	2	505	c.296C>T	c.(295-297)tCt>tTt	p.S99F	CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc021vuy.1_Missense_Mutation_p.S99F|CASP8_uc021vuz.1_Missense_Mutation_p.S99F|CASP8_uc021vva.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	99					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493000										HNSCC(4;0.00038)				32			13		0	0	0.00185496	0	0
ABCB1	5243	broad.mit.edu	37	7	87214929	87214930	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:87214929_87214930CC>TT	uc003uiz.2	-	4	677_678	c.184_185GG>AA	c.(184-186)ggg>AAg	p.G62K	ABCB1_uc011khc.2_Missense_Mutation_p.G62K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	62	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G62R(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAGTCCAGCCCCATGGATGATG	0.391000														53			15		0	0	6.4e-05	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43568681	43568681	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:43568681G>A	uc002lbp.4	-	13	1096	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	PSTPIP2_uc002lbq.4_Silent_p.I301I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	334						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGATTTTACTGATAGAGCAAA	0.323000														63			24		0	0	0.000878237	0	0
IL37	27178	broad.mit.edu	37	2	113675270	113675270	+	Silent	SNP	G	A	A	rs150018952	by1000genomes	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:113675270G>A	uc002tij.3	+	3	366	c.324G>A	c.(322-324)ccG>ccA	p.P108P	IL37_uc002tim.3_Silent_p.P47P|IL37_uc002tik.3_Silent_p.P87P|IL37_uc002til.3_Silent_p.P68P|IL37_uc002tin.3_Silent_p.P82P	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	108			P -> L (in dbSNP:rs2723187).		immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAGGAAGTCCGATTCTCCTGG	0.483000														162			56		0	0	0.000781405	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														38			8		0	0	0.00136819	0	0
ZNF710	374655	broad.mit.edu	37	15	90611734	90611734	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:90611734C>T	uc002bov.2	+	1	1488	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACCACATGCTCAAGCACCAGA	0.597000														69			23		0	0	0.000586117	0	0
AKAP3	10566	broad.mit.edu	37	12	4737889	4737889	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:4737889C>T	uc001qnb.4	-	3	423	c.179G>A	c.(178-180)cGg>cAg	p.R60Q		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGTTTGAACCGAACATCTTG	0.502000														51			16		0	0	0.000308642	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275455	77275455	+	Missense_Mutation	SNP	G	A	A	rs143581712		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:77275455G>A	uc001xsv.3	-	1	709	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCCCTCAAAGGGCCAGATGGA	0.602000														27			5		0	0	0.00116845	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243795	1243795	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:1243795C>T	uc003jby.2	+	8	1380	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	419					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)			CGACCATGTTCGGGACCGTGG	0.652000														67			23		0	0	0.00229938	0	0
STARD13	90627	broad.mit.edu	37	13	33739502	33739502	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:33739502C>T	uc001uuw.3	-	2	421	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	STARD13_uc001uuu.3_Missense_Mutation_p.E91K|STARD13_uc001uuv.3_5'UTR|STARD13_uc001uux.3_Missense_Mutation_p.E64K|STARD13_uc010abh.1_Missense_Mutation_p.E84K|STARD13_uc021rhz.1_Missense_Mutation_p.E91K|STARD13_uc021ria.1_5'UTR	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	99	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGTCCTTTTCAAGAAAATCA	0.378000														64			21		0	0	0.00188189	0	0
OR2H1	26716	broad.mit.edu	37	6	29430419	29430419	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:29430419G>A	uc003nmi.3	+	2	1316	c.873G>A	c.(871-873)agG>agA	p.R291R	OR2H1_uc003nmj.1_Silent_p.R291R|OR2H1_uc010jri.2_Silent_p.R213R|OR2H1_uc021ytr.1_Silent_p.R291R	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACACCCTGAGGAACAAGGAGA	0.483000														61			14		0	0	0.000308642	0	0
TRMT11	60487	broad.mit.edu	37	6	126359912	126359912	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:126359912C>T	uc003qam.3	+	12	1443	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Missense_Mutation_p.S436F	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	441					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GGTCATAATTCCTTCCGTGAG	0.333000														104			32		0	0	0.00209593	0	0
VPS13D	55187	broad.mit.edu	37	1	12438576	12438576	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:12438576C>T	uc001atv.3	+	55	11153	c.11012C>T	c.(11011-11013)tCa>tTa	p.S3671L	VPS13D_uc001atw.3_Missense_Mutation_p.S3646L|VPS13D_uc001atx.3_Missense_Mutation_p.S2858L|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3670					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATAAGCCCTCAGCCGCCCGC	0.522000														46			14		0	0	0.00244969	0	0
GDF3	9573	broad.mit.edu	37	12	7843004	7843004	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:7843004C>T	uc001qte.3	-	1	601	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	189					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.K188N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCATTCCAATCCTTAGCTACA	0.498000														93			29		0	0	0.00178596	0	0
TLR8	51311	broad.mit.edu	37	X	12937885	12937885	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:12937885C>A	uc004cvd.3	+	2	950	c.780C>A	c.(778-780)ttC>ttA	p.F260L	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.F242L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	242					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGAAGATTTCAAGGGATTGA	0.433000														22			21		1.87028e-06	8.65513e-06	0.00188189	1	0
AIFM2	84883	broad.mit.edu	37	10	71880966	71880966	+	Splice_Site	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:71880966G>A	uc010qjg.2	-	3	311	c.295_splice	c.e3-1	p.A99_splice	AIFM2_uc021psi.1_Splice_Site_p.A99_splice|AIFM2_uc001jqp.2_Splice_Site_p.A99_splice	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	99					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GAAGGGCAGGGCCTGAGAGAA	0.537000														25			4		0	0	0.00024832	0	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	T	T	rs11554273		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:57484420C>T	uc002xzw.3	+	7	2815	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R169C|GNAS_uc010gjq.3_Missense_Mutation_p.R142C|GNAS_uc002xzx.3_Missense_Mutation_p.R142C|GNAS_uc021wfn.1_Missense_Mutation_p.R201C|GNAS_uc021wfo.1_Missense_Mutation_p.R202C|GNAS_uc002yaa.3_Missense_Mutation_p.R186C|GNAS_uc021wfp.1_Missense_Mutation_p.R187C|GNAS_uc002yad.3_Missense_Mutation_p.R92C|GNAS_uc002yae.3_Missense_Mutation_p.R126C	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	201					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				72			20		0	0	0.00278032	0	0
PCDH15	65217	broad.mit.edu	37	10	55755466	55755466	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:55755466C>T	uc010qhy.1	-	21	3221	c.2826G>A	c.(2824-2826)ccG>ccA	p.P942P	PCDH15_uc010qhq.2_Silent_p.P942P|PCDH15_uc010qhr.2_Silent_p.P937P|PCDH15_uc021pqv.1_Silent_p.P937P|PCDH15_uc021pqw.1_Silent_p.P949P|PCDH15_uc010qht.2_Silent_p.P944P|PCDH15_uc021pqx.1_Silent_p.P937P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P937P|PCDH15_uc021pqz.1_Silent_p.P915P|PCDH15_uc010qhv.1_Silent_p.P937P|PCDH15_uc010qhw.1_Silent_p.P900P|PCDH15_uc010qhx.1_Silent_p.P866P|PCDH15_uc010qhz.1_Silent_p.P937P|PCDH15_uc010qia.1_Silent_p.P915P|PCDH15_uc001jju.1_Silent_p.P937P|PCDH15_uc010qib.1_Silent_p.P915P|PCDH15_uc001jjw.3_Silent_p.P937P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	937	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGACTGCATCCGGAGCCACCA	0.393000										HNSCC(58;0.16)				52			21		0	0	0.00152264	0	0
DNAH7	56171	broad.mit.edu	37	2	196774837	196774837	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:196774837C>T	uc002utj.4	-	24	4119	c.4018G>A	c.(4018-4020)Gat>Aat	p.D1340N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1340	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCCAAATCCTTGGTAGTT	0.423000														30			8		0	0	0.000157383	0	0
SERTM1	400120	broad.mit.edu	37	13	37269359	37269359	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:37269359C>T	uc001uvt.4	+	1	590	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SERTM1_uc021rii.1_Silent_p.F48F	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	48						integral to membrane											TGTCCATATTCCTCAGCCTTT	0.478000														170			42		0	0	0.0025221	0	0
DNAH5	1767	broad.mit.edu	37	5	13885212	13885212	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:13885212C>T	uc003jfd.2	-	18	2911	c.2869G>A	c.(2869-2871)Gag>Aag	p.E957K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	957	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E957*(2)|p.R956R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGAGTAACTCGCGGGCTTCT	0.448000									Kartagener syndrome					69			29		0	0	0.00106085	0	0
CD48	962	broad.mit.edu	37	1	160651006	160651006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:160651006G>A	uc001fwo.1	-	2	670	c.638C>T	c.(637-639)cCa>cTa	p.P213L	CD48_uc001fwn.3_Missense_Mutation_p.P213L	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	213					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTACAGGGTGGACTGAGGCA	0.517000														54			22		0	0	0.00047179	0	0
STT3B	201595	broad.mit.edu	37	3	31670893	31670893	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:31670893G>A	uc011axe.2	+	13	2177	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E		NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	726					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TACAGATTTGGAGAAATGCAG	0.323000														33			6		0	0	0.00198382	0	0
ANK3	288	broad.mit.edu	37	10	61830618	61830618	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:61830618C>T	uc001jky.3	-	36	10359	c.10021G>A	c.(10021-10023)Gat>Aat	p.D3341N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3341					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D3341Y(2)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGTTCATCGTCCACTTCC	0.408000														111			43		0	0	0.0025221	0	0
PER2	8864	broad.mit.edu	37	2	239161888	239161888	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:239161888G>A	uc002vyc.3	-	18	3013	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S	PER2_uc010znv.1_Missense_Mutation_p.P926S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	926	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCTGGCTGGGGAAGAAGGCC	0.637000														68			25		0	0	0.00278032	0	0
ABHD11	83451	broad.mit.edu	37	7	73151395	73151395	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:73151395C>T	uc003tzb.3	-	4	742	c.679G>A	c.(679-681)Gac>Aac	p.D227N	ABHD11_uc003tza.3_Missense_Mutation_p.D114N|ABHD11_uc011kfb.2_Missense_Mutation_p.D170N|ABHD11_uc003tzc.3_Missense_Mutation_p.D220N	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AAGCGCCCGTCTACCTCTACC	0.622000														58			25		0	0	0.00178596	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559780	11559780	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11559780C>T	uc010xlz.2	+	14	1674	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	PRKCSH_uc002mrt.3_Silent_p.L439L|PRKCSH_uc002mru.3_Silent_p.L436L|PRKCSH_uc010dyb.3_Silent_p.L436L	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	439	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AACCCAAACTCGGGGGCTCTC	0.647000														87			23		0	0	0.00106085	0	0
TRAK1	22906	broad.mit.edu	37	3	42244110	42244110	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:42244110C>T	uc003cky.3	+	12	1826	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	TRAK1_uc011azh.2_Missense_Mutation_p.S537F|TRAK1_uc011azi.2_Missense_Mutation_p.S537F|TRAK1_uc003ckz.4_Missense_Mutation_p.S463F|TRAK1_uc011azj.2_Missense_Mutation_p.S463F|TRAK1_uc003cla.3_Missense_Mutation_p.S479F	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	537					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGCAGCGGCTCCCTCACACCC	0.632000														65			15		0	0	0.000566183	0	0
NEK10	152110	broad.mit.edu	37	3	27346402	27346402	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:27346402C>T	uc003cdt.2	-	12	1138	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	288							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTCATAGAGCTTCACCTGCT	0.547000														29			7		0	0	0.000157383	0	0
PDC	5132	broad.mit.edu	37	1	186413470	186413470	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:186413470C>T	uc001gsa.3	-	3	455	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.E76K	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	128					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGTTCCTTTTCAATTGTTTCT	0.398000														109			34		0	0	0.000692331	0	0
CHML	1122	broad.mit.edu	37	1	241797947	241797947	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:241797947G>A	uc001hzd.3	-	0	1286	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	374					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GAAATAAAAAGGGGGTGTTGC	0.413000														59			15		0	0	0.000308642	0	0
COL1A1	1277	broad.mit.edu	37	17	48267720	48267720	+	Missense_Mutation	SNP	G	A	A	rs74315133		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:48267720G>A	uc002iqm.3	-	34	2545	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	807	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGCCGGGGGGACCAGGCTCA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							63			29		0	0	0.00178596	0	0
ENTPD4	9583	broad.mit.edu	37	8	23299548	23299548	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:23299548G>A	uc003xdl.3	-	6	971	c.699C>T	c.(697-699)gtC>gtT	p.V233V	ENTPD4_uc011kzu.1_Silent_p.V233V|ENTPD4_uc003xdm.3_Silent_p.V233V|ENTPD4_uc011kzv.1_Silent_p.V233V	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	233					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATCGTCCAAGGACAAAATTAA	0.358000														46			14		0	0	0.000422831	0	0
CH25H	9023	broad.mit.edu	37	10	90966606	90966606	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:90966606C>T	uc001kfz.3	-	0	466	c.444G>A	c.(442-444)aaG>aaA	p.K148K		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	148					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GCCAGGGCACCTTGTGGTGCA	0.582000														75			19		0	0	0.00074312	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370661	60370661	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:60370661G>A	uc001czq.3	-	6	1078	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	358					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GTAGGGCATGGACTCCCGGGC	0.517000														91			30		0	0	0.0024448	0	0
ADAM28	10863	broad.mit.edu	37	8	24192998	24192998	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:24192998G>A	uc003xdy.3	+	13	1494	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	ADAM28_uc003xdx.3_Missense_Mutation_p.E471K|ADAM28_uc011kzz.2_Missense_Mutation_p.E238K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E158K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	471	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D470N(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGCAAAAGATGAGTGCGACCT	0.438000														36			10		0	0	0.000978159	0	0
GK2	2712	broad.mit.edu	37	4	80329214	80329214	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:80329214G>A	uc003hlu.3	-	0	159	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	47					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTCTTTTGGGAACTCTTGTG	0.438000														99			35		0	0	0.00283554	0	0
SPEG	10290	broad.mit.edu	37	2	220344734	220344735	+	Missense_Mutation	DNP	GA	TC	TC			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:220344734_220344735GA>TC	uc010fwg.3	+	24	5214_5215	c.5214_5215GA>TC	c.(5212-5217)cggatc>cgTCtc	p.I1739L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1739	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGGTGCGGATCTGTGACTT	0.579000														51			16		0	0	6.4e-05	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347620	38347620	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38347620G>A	uc003cib.2	+	0	176	c.103G>A	c.(103-105)Gag>Aag	p.E35K	SLC22A14_uc010hhc.1_Missense_Mutation_p.E35K|SLC22A14_uc003cia.2_Missense_Mutation_p.E35K|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	35						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGGTCTCTGGAGATGCTGTT	0.542000														91			28		0	0	0.00178596	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664155	169664155	+	RNA	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:169664155G>A	uc011bpp.2	-	1		c.3648C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		AGTTGCTACAGGTGAAGCGGT	0.498000														20			11		0	0	0.000978159	0	0
COL4A4	1286	broad.mit.edu	37	2	227945185	227945185	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227945185C>T	uc021vxr.1	-	22	1878	c.1777G>A	c.(1777-1779)Gga>Aga	p.G593R	COL4A4_uc021vxs.1_Missense_Mutation_p.G593R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	593	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTTTCTCCAGCATGTCCA	0.463000														138			37		0	0	0.00170553	0	0
ADAM18	8749	broad.mit.edu	37	8	39502860	39502860	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:39502860C>T	uc003xni.3	+	10	968	c.913C>T	c.(913-915)Cca>Tca	p.P305S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P281S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	305	Peptidase M12B.				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)			ATTTTAGTATCCAGATGCAAT	0.284000														56			16		0	0	0.000566183	0	0
EFR3A	23167	broad.mit.edu	37	8	132996523	132996523	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:132996523C>T	uc003yte.3	+	14	1917	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	571						plasma membrane	binding	p.D570H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTATTGATCTCATTCGACTGG	0.348000														120			37		0	0	0.00128727	0	0
DLL1	28514	broad.mit.edu	37	6	170594737	170594737	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:170594737G>A	uc003qxm.3	-	5	1252	c.782C>T	c.(781-783)cCa>cTa	p.P261L		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	261	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GAGACAGCCTGGATAGCGGAT	0.592000														55			18		0	0	0.000566183	0	0
FCN1	2219	broad.mit.edu	37	9	137803030	137803030	+	Missense_Mutation	SNP	C	T	T	rs140102154		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:137803030C>T	uc004cfi.3	-	7	771	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	228	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTCTGCCTCGTCAGCCACC	0.547000														187			63		0	0	0.000781405	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815545	30815545	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:30815545C>T	uc002hhn.3	+	1	1128	c.907C>T	c.(907-909)Cta>Tta	p.L303L	CDK5R1_uc010wca.1_Silent_p.L303L|CDK5R1_uc021tux.1_Silent_p.L303L|CDK5R1_uc010ctc.3_Silent_p.L67L	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1), mRNA.	303					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GCGGCTCCTCCTAGGCCTGGA	0.473000														72			22		0	0	0.00188189	0	0
PCLO	27445	broad.mit.edu	37	7	82582045	82582045	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:82582045C>T	uc003uhx.2	-	4	8513	c.8224G>A	c.(8224-8226)Gat>Aat	p.D2742N	PCLO_uc003uhv.2_Missense_Mutation_p.D2742N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2673					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACATTTATCAGTTGTTTTA	0.353000														38			16		0	0	0.000422831	0	0
APEX1	328	broad.mit.edu	37	14	20923850	20923850	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:20923850G>A	uc001vxg.3	+	1	378	c.46G>A	c.(46-48)Gag>Aag	p.E16K	OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Missense_Mutation_p.E16K|APEX1_uc001vxi.3_Missense_Mutation_p.E16K|APEX1_uc021rnr.1_Missense_Mutation_p.E16K	NM_001641	NP_001632	P27695	APEX1_HUMAN	Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA.	16	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AGACGGGGATGAGCTCAGGAC	0.572000								Other BER factors						61			19		0	0	0.00152264	0	0
MMP16	4325	broad.mit.edu	37	8	89068426	89068426	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:89068426G>A	uc003yeb.4	-	7	1585	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	435	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATGAGGGGGAATTCCACTT	0.423000														53			19		0	0	0.00152264	0	0
ETV6	2120	broad.mit.edu	37	12	11905391	11905391	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:11905391G>A	uc001qzz.3	+	1	315	c.41G>A	c.(40-42)cGa>cAa	p.R14Q		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	14						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGCAGGAACGAATTTCATAT	0.532000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									70			23		0	0	0.00278032	0	0
SPATA21	374955	broad.mit.edu	37	1	16736461	16736461	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:16736461C>T	uc001ayn.3	-	5	705	c.222G>A	c.(220-222)ggG>ggA	p.G74G	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.G51G	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	74							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCTCTGTGTCCCTGCAGCCA	0.657000														41			8		0	0	0.000157383	0	0
TOX4	9878	broad.mit.edu	37	14	21960666	21960667	+	Splice_Site	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:21960666_21960667GG>AA	uc001waz.3	+	7	995	c.892_splice	c.e7-1	p.A298_splice	TOX4_uc001way.3_Splice_Site_p.A168_splice|TOX4_uc010tlu.2_Splice_Site_p.A275_splice|TOX4_uc010tlv.2_Splice_Site_p.A168_splice	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	298						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTTCTTTTAGGCCACTGTGGA	0.411000														86			23		0	0	6.4e-05	0	0
HHLA3	11147	broad.mit.edu	37	1	70820748	70820748	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:70820748G>A	uc001dfc.3	+	0	256	c.114G>A	c.(112-114)agG>agA	p.R38R	ANKRD13C_uc001dex.4_5'Flank|ANKRD13C_uc009wbk.3_5'Flank|ANKRD13C_uc001dey.4_5'Flank|HHLA3_uc010oqp.2_Non-coding_Transcript|HHLA3_uc001dfb.3_Silent_p.R38R|HHLA3_uc001dfa.3_Silent_p.R38R	NM_001031693	NP_001026863	Q9XRX5	HHLA3_HUMAN	Homo sapiens HERV-H LTR-associating 3 (HHLA3), transcript variant 1, mRNA.	38							protein binding			large_intestine(3)|lung(1)	4						AGATGCAGAGGATactcagtc	0.493000														36			7		0	0	0.00198382	0	0
IP6K3	117283	broad.mit.edu	37	6	33694609	33694609	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:33694609C>T	uc010jvf.2	-	4	1024	c.488G>A	c.(487-489)gGa>gAa	p.G163E	IP6K3_uc003ofb.2_Missense_Mutation_p.G163E	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	163					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AACCTGGTTTCCGTTGGTGTC	0.637000														74			22		0	0	0.00188189	0	0
JRKL	8690	broad.mit.edu	37	11	96124993	96124993	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:96124993G>A	uc009ywu.3	+	1	1432	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	JRKL_uc021qpa.1_Intron|CCDC82_uc001pfx.4_5'Flank|CCDC82_uc009ywr.3_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.E394K	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	Homo sapiens jerky homolog-like (mouse) (JRKL), mRNA.	394					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TATGGTAGAGGAGAAAGAGAG	0.408000														87			21		0	0	0.00229938	0	0
PRSS36	146547	broad.mit.edu	37	16	31157121	31157121	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:31157121C>T	uc002ebd.3	-	5	768	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PRSS36_uc010vff.2_Missense_Mutation_p.D12N|PRSS36_uc010vfg.2_Missense_Mutation_p.D237N|PRSS36_uc010vfh.2_Missense_Mutation_p.D237N	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	237	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCAGGTGTCCCTGCGGCCC	0.597000														96			34		0	0	0.000953801	0	0
GPR37L1	9283	broad.mit.edu	37	1	202096983	202096983	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:202096983C>T	uc001gxj.3	+	1	808	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	249						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAATCCATCCTGGCCAAGTT	0.647000														44			10		0	0	0.000442599	0	0
TPH2	121278	broad.mit.edu	37	12	72372731	72372731	+	Splice_Site	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:72372731G>A	uc009zrw.1	+	7	947	c.806_splice	c.e7-1	p.E269_splice	TPH2_uc001swy.2_Splice_Site_p.E179_splice	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	269					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGCCTTTTTAGAAAGGTCTGG	0.483000														97			28		0	0	0.001512	0	0
OR51G1	79324	broad.mit.edu	37	11	4945077	4945077	+	Silent	SNP	G	A	A	rs143975651		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:4945077G>A	uc010qyr.2	-	0	493	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCGCTTCAGGAGGAATGGC	0.512000														32			16		0	0	0.000308642	0	0
ALPPL2	251	broad.mit.edu	37	2	233272069	233272069	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:233272069C>T	uc002vss.4	+	2	311	c.258C>T	c.(256-258)acC>acT	p.T86T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	86					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGCCTGAGACCTTCCTGGCCA	0.567000														32			9		0	0	0.000442599	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800874	18800874	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:18800874C>T	uc001rdt.3	+	31	4366	c.4250C>T	c.(4249-4251)aCt>aTt	p.T1417I	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T1458I|PIK3C2G_uc010sic.2_Missense_Mutation_p.T1236I	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1417	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAGAGTAAAACTGTATTTGTG	0.343000														33			10		0	0	0.000442599	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028067	170028067	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:170028067G>A	uc003isa.1	-	10	2764	c.2429C>T	c.(2428-2430)cCa>cTa	p.P810L		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	810						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCGAGGAGGTGGAGCGATGGG	0.562000														82			27		0	0	0.001512	0	0
CHID1	66005	broad.mit.edu	37	11	903030	903030	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:903030G>A	uc010qwu.1	-	2	396	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	CHID1_uc010qwv.2_Missense_Mutation_p.R126C|CHID1_uc001lsn.3_Missense_Mutation_p.R90C|CHID1_uc001lso.3_Missense_Mutation_p.R65C|CHID1_uc001lsm.3_Missense_Mutation_p.R65C|CHID1_uc001lsp.3_Missense_Mutation_p.R65C|CHID1_uc010qww.2_Missense_Mutation_p.R65C	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	65					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CAGTAGCTGCGATGCTCAAGA	0.547000														41			23		0	0	0.00188189	0	0
OR56B4	196335	broad.mit.edu	37	11	6129055	6129055	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:6129055C>T	uc010qzx.2	+	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAGATTTCCCAGTTCATC	0.502000														54			13		0	0	0.00136819	0	0
ZNF687	57592	broad.mit.edu	37	1	151261703	151261704	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:151261703_151261704CC>TT	uc001exq.3	+	3	2525_2526	c.2427_2428CC>TT	c.(2425-2430)gcccac>gcTTac	p.H810Y	ZNF687_uc009wmo.3_Missense_Mutation_p.H810Y|ZNF687_uc009wmp.3_Missense_Mutation_p.H810Y	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCCCATGCCCACCTCTACTC	0.649000														37			10		0	0	6.4e-05	0	0
CCP110	9738	broad.mit.edu	37	16	19547582	19547582	+	Silent	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:19547582A>G	uc002dgl.4	+	3	838	c.591A>G	c.(589-591)gaA>gaG	p.E197E	CCP110_uc002dgk.4_Silent_p.E197E	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	197	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCCCACAAGAAACTCTTATTT	0.388000														133			24		0	0	0.00047179	0	0
ALPK2	115701	broad.mit.edu	37	18	56246704	56246704	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:56246704G>T	uc002lhj.4	-	3	1518	c.1304C>A	c.(1303-1305)cCt>cAt	p.P435H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	435							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCCTGGTGAGGTCCCAAAAT	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			33		2.08457e-15	9.66291e-15	0.00209593	1	0
F13A1	2162	broad.mit.edu	37	6	6222389	6222390	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:6222389_6222390CC>TT	uc003mwv.3	-	7	1111_1112	c.988_989GG>AA	c.(988-990)gga>AAa	p.G330K	F13A1_uc011dib.2_Missense_Mutation_p.G267K	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	330					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G330V(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCTGGTATTCCAAGGCATCGT	0.406000														25			11		0	0	6.4e-05	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:82670747G>A	uc003ycl.3	+	4	844	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGAGGATGATGATATCAAACA	0.318000														59			21		0	0	0.000586117	0	0
GALNT13	114805	broad.mit.edu	37	2	155099242	155099242	+	Silent	SNP	G	A	A	rs142707218		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:155099242G>A	uc002tyt.4	+	3	614	c.510G>A	c.(508-510)gtG>gtA	p.V170V	GALNT13_uc002tyr.4_Silent_p.V170V|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	170	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y169Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAATTACGTGAAAAATTTAG	0.353000														35			15		0	0	0.000308642	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24532357	24532357	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:24532357G>A	uc003nef.3	+	9	1421	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	ALDH5A1_uc003neg.3_Missense_Mutation_p.E452K	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	452					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTTCGATACAGAGGAGGAGGC	0.408000														40			16		0	0	0.000422831	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376702	8376702	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:8376702C>T	uc001qui.2	-	4	792	c.233G>A	c.(232-234)gGg>gAg	p.G78E	FAM90A1_uc001quh.2_Missense_Mutation_p.G78E	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	78							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTTTTCCTTCCCTTCCTTTTC	0.547000														184			19		0	0	0.00152264	0	0
TCP11	6954	broad.mit.edu	37	6	35088211	35088211	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:35088211G>A	uc003okd.2	-	6	1148	c.967C>T	c.(967-969)Cct>Tct	p.P323S	TCP11_uc003ojz.1_Missense_Mutation_p.P248S|TCP11_uc003oka.2_Missense_Mutation_p.P248S|TCP11_uc003okb.2_Missense_Mutation_p.P247S|TCP11_uc011dsu.1_Missense_Mutation_p.P305S|TCP11_uc003okc.2_Missense_Mutation_p.P247S|TCP11_uc011dsv.1_Missense_Mutation_p.P272S|TCP11_uc011dsw.1_Missense_Mutation_p.P277S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	310					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCTACCTCAGGGAACTCTTCA	0.557000														64			25		0	0	0.00127121	0	0
CPXM2	119587	broad.mit.edu	37	10	125528188	125528188	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:125528188C>T	uc001lhk.1	-	8	1478	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	385					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGCTCCCGGCCCAGCACCTCA	0.597000														95			23		0	0	0.00047179	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102549592	102549592	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:102549592G>A	uc001yku.4	-	8	1724	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	HSP90AA1_uc001ykv.4_Missense_Mutation_p.R634W|HSP90AA1_uc001ykw.1_Missense_Mutation_p.R333W|HSP90AA1_uc001ykx.1_Missense_Mutation_p.R501W	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	512					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CCATGTTTCCGAAGACGTTCC	0.418000														98			37		0	0	0.000814825	0	0
CCDC132	55610	broad.mit.edu	37	7	92970742	92970742	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:92970742G>C	uc003umo.3	+	22	2190	c.2062G>C	c.(2062-2064)Gtt>Ctt	p.V688L	CCDC132_uc003ump.3_Missense_Mutation_p.V658L|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.V408L	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	688										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGGAAGTTTCAGCTGA	0.378000														20			6		0	0	0.00116845	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011947	73011947	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:73011947G>A	uc003tyn.1	-	8	1216	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.P390S|MLXIPL_uc003tym.1_Missense_Mutation_p.P390S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P390S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.P297S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P132S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	390	Poly-Pro.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGGTACAGGAGGGGGTGGG	0.672000														11			4		0	0	0.00024832	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988399	135988399	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:135988399C>T	uc002tum.3	-	12	1755	c.1638G>A	c.(1636-1638)cgG>cgA	p.R546R	ZRANB3_uc002tuk.3_Silent_p.R89R|ZRANB3_uc002tul.3_Silent_p.R546R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	546			R -> Q (in dbSNP:rs7608121).			intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TATTTTCCTCCCGGAATCTCT	0.363000														86			18		0	0	0.00074312	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243504406	243504406	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:243504406G>A	uc001hzw.3	+	10	1456	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	SDCCAG8_uc010pyk.2_Silent_p.K284K|SDCCAG8_uc010pyl.2_Silent_p.K241K|SDCCAG8_uc001hzx.3_Silent_p.K241K	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	429	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAAGGAAAAGATTTCAGCTA	0.388000														57			12		0	0	0.00136819	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080618	79080618	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:79080618T>A	uc002jzg.2	+	11	1519	c.1411T>A	c.(1411-1413)Tac>Aac	p.Y471N	BAIAP2_uc002jyz.4_Missense_Mutation_p.Y471N|BAIAP2_uc002jza.2_Missense_Mutation_p.Y471N|BAIAP2_uc002jzc.2_Missense_Mutation_p.Y472N|BAIAP2_uc002jzb.2_Missense_Mutation_p.Y228N|BAIAP2_uc010wuh.1_Missense_Mutation_p.Y393N|BAIAP2_uc002jzd.2_Missense_Mutation_p.Y471N|BAIAP2_uc002jzf.2_Missense_Mutation_p.Y471N|BAIAP2_uc002jze.2_Missense_Mutation_p.Y504N|BAIAP2_uc002jzh.2_Missense_Mutation_p.Y472N|BAIAP2_uc010wui.2_Missense_Mutation_p.Y334N	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	471					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCCCCGATTACGGCGCCGC	0.697000														33			6		0	0	0.00116845	0	0
ABCA13	154664	broad.mit.edu	37	7	48314850	48314850	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:48314850C>T	uc003toq.2	+	16	5611	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y	ABCA13_uc010kyr.2_Missense_Mutation_p.H1366Y|ABCA13_uc022acp.1_Missense_Mutation_p.H362Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1863					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGATCATTTCCACCTGTCTCC	0.428000														70			27		0	0	0.000586117	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147192	26147192	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:26147192C>T	uc002dof.3	+	1	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	332					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552000														165			52		0	0	0.000781405	0	0
WBP11	51729	broad.mit.edu	37	12	14940385	14940385	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:14940385G>A	uc001rci.3	-	11	1701	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	514	Pro-rich.				RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGTCCAAGGGGAGGCACCAAA	0.517000														96			38		0	0	0.00128727	0	0
DOCK11	139818	broad.mit.edu	37	X	117744354	117744354	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:117744354G>A	uc004eqp.2	+	27	3132	c.3069G>A	c.(3067-3069)gtG>gtA	p.V1023V	DOCK11_uc004eqq.2_Silent_p.V789V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1023					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAGAAATGTGAACTATAGTT	0.423000														25			22		0	0	0.000586117	0	0
DSG1	1828	broad.mit.edu	37	18	28918295	28918295	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:28918295A>T	uc002kwp.3	+	9	1495	c.1283A>T	c.(1282-1284)aAt>aTt	p.N428I		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	428	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGAAATAATCCAGCTGAC	0.303000														49			19		0	0	0.00152264	0	0
LRRC27	80313	broad.mit.edu	37	10	134147123	134147123	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:134147123C>T	uc010quw.1	+	1	290	c.95C>T	c.(94-96)tCc>tTc	p.S32F	STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Missense_Mutation_p.S32F|LRRC27_uc010quv.1_Missense_Mutation_p.S32F|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.S32F|LRRC27_uc001llj.2_5'Flank	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	32										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCCACCCCCTCCAAAGATGTT	0.537000														56			16		0	0	0.000308642	0	0
GPR98	84059	broad.mit.edu	37	5	90070010	90070010	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:90070010C>T	uc003kju.3	+	59	12389	c.12293C>T	c.(12292-12294)tCc>tTc	p.S4098F	GPR98_uc003kjt.3_Missense_Mutation_p.S1804F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4098	Calx-beta 27.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGACTGAGTCCCAGAAGACC	0.403000														24			14		0	0	0.000308642	0	0
REG3G	130120	broad.mit.edu	37	2	79254185	79254185	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:79254185G>A	uc002snw.3	+	3	306	c.221G>A	c.(220-222)gGa>gAa	p.G74E	REG3G_uc002snx.3_Missense_Mutation_p.G74E|REG3G_uc010ffu.3_Intron	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	74	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGCCCTCTGGAAAACTGGTG	0.557000														108			28		0	0	0.00283554	0	0
PDE4C	5143	broad.mit.edu	37	19	18322736	18322736	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:18322736C>T	uc010xqc.2	-	13	2104	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	PDE4C_uc002nik.4_Missense_Mutation_p.V542M|PDE4C_uc002nil.4_Missense_Mutation_p.V542M|PDE4C_uc002nig.4_Missense_Mutation_p.V257M|PDE4C_uc002nih.4_Missense_Mutation_p.V312M|PDE4C_uc010ebk.3_Missense_Mutation_p.V436M|PDE4C_uc002nii.4_Missense_Mutation_p.V510M|PDE4C_uc002nif.4_Missense_Mutation_p.V311M|PDE4C_uc010ebl.3_Missense_Mutation_p.V256M	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	542					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCACAGTGCACCAGGTTCTGC	0.637000														28			6		0	0	0.00116845	0	0
CDC20B	166979	broad.mit.edu	37	5	54420693	54420693	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:54420693C>T	uc003jpo.2	-	8	1330	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	CDC20B_uc003jpn.2_Missense_Mutation_p.D385N|CDC20B_uc010ivu.2_Missense_Mutation_p.D385N|CDC20B_uc010ivv.2_3'UTR	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	385										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GCACCTGGATCGTGGGGCCAT	0.537000														50			23		0	0	0.00188189	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687591	3687591	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:3687591G>C	uc001lyf.3	-	4	1171	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	CHRNA10_uc010qxt.2_Missense_Mutation_p.P161A|CHRNA10_uc010qxu.2_Missense_Mutation_p.P161A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	367					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TGGGGGCTAGGAGATAACTCA	0.692000														62			24		0	0	0.000586117	0	0
NYAP2	57624	broad.mit.edu	37	2	226447216	226447216	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:226447216G>A	uc002voe.2	+	3	1258	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.T131T	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	361	Pro-rich.																TGGAGGTCACGAAGCTTCCCG	0.642000														11			9		0	0	0.000442599	0	0
GLRB	2743	broad.mit.edu	37	4	158057783	158057783	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:158057783C>T	uc003ipj.2	+	4	662	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_uc021xtp.1_Missense_Mutation_p.H154Y|GLRB_uc021xtq.1_Missense_Mutation_p.H154Y	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	154					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.H154Y(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCCAATTTTCATGATGTGAC	0.353000														125			49		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13850790	13850790	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:13850790C>T	uc003jfd.2	-	30	5127	c.5085G>A	c.(5083-5085)caG>caA	p.Q1695Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1695	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1694V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATATTTCCAACTGGTCCAGCA	0.498000									Kartagener syndrome					44			11		0	0	0.000978159	0	0
LCT	3938	broad.mit.edu	37	2	136566094	136566094	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:136566094C>T	uc002tuu.1	-	7	3834	c.3823G>A	c.(3823-3825)Gga>Aga	p.G1275R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1275	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCCACTCCGTTTTCGGTG	0.502000														116			43		0	0	0.00195071	0	0
RGPD4	285190	broad.mit.edu	37	2	108488404	108488404	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:108488404C>T	uc010ywk.2	+	19	4026	c.3944C>T	c.(3943-3945)tCa>tTa	p.S1315L	RGPD4_uc002tdu.3_Missense_Mutation_p.S502L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1315					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGTGGGACTTCAGTTGGCACT	0.403000														179			50		0	0	0.000781405	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163811	32163811	+	RNA	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:32163811G>A	uc002ecx.3	-	0		c.64C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GTGATGGAGCGGAGCTGGGAG	0.522000														78			13		0	0	0.00121646	0	0
FAM131C	348487	broad.mit.edu	37	1	16386002	16386002	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:16386002G>A	uc001axz.4	-	5	739	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	183										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCTGGACGATGCCTTGGG	0.642000														15			7		0	0	0.000274275	0	0
LPHN1	22859	broad.mit.edu	37	19	14269363	14269364	+	Splice_Site	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:14269363_14269364CC>TT	uc010xnn.2	-	13	2461	c.2165_splice	c.e13-1	p.G722_splice	LPHN1_uc010xno.2_Splice_Site_p.G717_splice|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	722					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGACCACCCCTGGTGAGAA	0.619000														32			5		0	0	6.4e-05	0	0
TIMM22	29928	broad.mit.edu	37	17	900385	900385	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:900385G>A	uc002fsc.3	+	0	29	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	1					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGACTGTCATGGCGGCGGCCG	0.667000														18			11		0	0	0.00136819	0	0
CNGA4	1262	broad.mit.edu	37	11	6261744	6261744	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:6261744G>A	uc001mco.3	+	3	835	c.720G>A	c.(718-720)agG>agA	p.R240R	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Silent_p.R200R	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	240					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCCAGCCAGGGAAGAAGAGT	0.562000														64			27		0	0	0.000586117	0	0
NPHS1	4868	broad.mit.edu	37	19	36334407	36334407	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:36334407G>A	uc002oby.3	-	16	2457	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	767	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.N766Y(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGAGGATGGGATTGGCAT	0.577000														121			34		0	0	0.00283554	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688978	3688978	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:3688978G>A	uc001lyf.3	-	3	451	c.379C>T	c.(379-381)Cca>Tca	p.P127S	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	127					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCGGAACCTGGAGGCTGCGCG	0.741000														10			8		0	0	0.000274275	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232606	81232606	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:81232606C>T	uc002fgh.1	-	6	1204	c.1204G>A	c.(1204-1206)Ggc>Agc	p.G402S	PKD1L2_uc002fgj.3_Missense_Mutation_p.G402S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	402					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTAGCGAGCCCTTTTGGGTG	0.527000														70			29		0	0	0.00209593	0	0
IL7R	3575	broad.mit.edu	37	5	35871316	35871316	+	Splice_Site	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:35871316G>A	uc003jjs.3	+	4	626	c.537_splice	c.e4+1	p.T179_splice	IL7R_uc011coo.2_Splice_Site_p.T179_splice|IL7R_uc011cop.2_Splice_Site	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	179	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAATGGACGGTATGTAGTTC	0.358000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							27			14		0	0	0.000308642	0	0
TECPR2	9895	broad.mit.edu	37	14	102910032	102910033	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:102910032_102910033CC>TT	uc001ylw.2	+	11	3027_3028	c.2801_2802CC>TT	c.(2800-2802)ccc>cTT	p.P934L	TECPR2_uc010awl.3_Missense_Mutation_p.P934L|TECPR2_uc010txx.2_Missense_Mutation_p.P97L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	934							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTGGACTGTCCCTACCCGCTGT	0.614000														19			11		0	0	6.4e-05	0	0
SHKBP1	92799	broad.mit.edu	37	19	41088278	41088278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:41088278C>T	uc002oob.3	+	9	915	c.866C>T	c.(865-867)cCt>cTt	p.P289L	SHKBP1_uc002ooc.3_Intron|SHKBP1_uc010xvl.1_Missense_Mutation_p.P212L|SHKBP1_uc002ooe.3_Missense_Mutation_p.P126L|SHKBP1_uc010xvm.2_Missense_Mutation_p.P126L|SHKBP1_uc010xvn.2_Missense_Mutation_p.P167L	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	289						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGGTGCCTGTGGAGGCC	0.597000														86			30		0	0	0.00283554	0	0
ACAA1	30	broad.mit.edu	37	3	38169329	38169329	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38169329A>G	uc003cht.3	-	6	781	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	ACAA1_uc003chu.3_Missense_Mutation_p.F159L	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	192					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAATGCCAAACCGCTCAGCC	0.522000														51			22		0	0	0.00278032	0	0
CNNM1	26507	broad.mit.edu	37	10	101122106	101122106	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:101122106C>T	uc010qpi.2	+	3	2270	c.1981C>T	c.(1981-1983)Ctc>Ttc	p.L661F	CNNM1_uc009xwe.3_Missense_Mutation_p.L661F|CNNM1_uc001kpp.4_Missense_Mutation_p.L661F|CNNM1_uc009xwf.3_Missense_Mutation_p.L661F|CNNM1_uc009xwg.3_Missense_Mutation_p.L61F	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	661					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGAACACTACCTCTACCAGCG	0.547000														33			8		0	0	0.000673444	0	0
CYP1A2	1544	broad.mit.edu	37	15	75043542	75043542	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:75043542G>A	uc002ayr.1	+	2	908	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	282					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGTGTCCGGGACATCACGGG	0.572000														34			18		0	0	0.00152264	0	0
PLEC	5339	broad.mit.edu	37	8	144991362	144991362	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:144991362G>A	uc003zaf.1	-	31	13208	c.13038C>T	c.(13036-13038)atC>atT	p.I4346I	PLEC_uc003zab.1_Silent_p.I4209I|PLEC_uc003zac.1_Silent_p.I4213I|PLEC_uc003zad.2_Silent_p.I4209I|PLEC_uc003zae.1_Silent_p.I4177I|PLEC_uc003zag.1_Silent_p.I4187I|PLEC_uc003zah.2_Silent_p.I4195I|PLEC_uc003zaj.2_Silent_p.I4236I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4346	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTTCTTGGCGATGGCATCAT	0.642000														45			10		0	0	0.000442599	0	0
EDC4	23644	broad.mit.edu	37	16	67910401	67910401	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:67910401G>A	uc002eur.3	+	2	489	c.250G>A	c.(250-252)Gga>Aga	p.G84R	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.G16R|EDC4_uc002eus.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	84					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGTCTCTCAGGAGATGATAG	0.542000														49			14		0	0	0.00185496	0	0
SLC25A31	83447	broad.mit.edu	37	4	128689940	128689940	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:128689940C>T	uc003ifl.3	+	4	813	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	223					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.L223I(2)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AACTCCATTTCTTGTCTCCTT	0.323000														52			18		0	0	0.00074312	0	0
TRMT1L	81627	broad.mit.edu	37	1	185114617	185114617	+	Silent	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:185114617A>G	uc001grf.4	-	4	881	c.609T>C	c.(607-609)gtT>gtC	p.V203V	TRMT1L_uc010pon.2_Silent_p.V47V	NM_030934	NP_001189352	Q7Z2T5	TRM1L_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA.	203						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGGCGCCTAACATGTCCTA	0.338000														88			19		0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179403769	179403769	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179403769C>T	uc021vsy.1	-	301	91414	c.91189G>A	c.(91189-91191)Gat>Aat	p.D30397N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D24092N|TTN_uc021vta.1_Missense_Mutation_p.D24025N|TTN_uc021vtb.1_Missense_Mutation_p.D23900N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31324	Ig-like 137.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCAGCATCGGGAACAAGC	0.483000														60			20		0	0	0.00152264	0	0
FAT2	2196	broad.mit.edu	37	5	150946893	150946893	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:150946893T>C	uc003lue.4	-	0	1613	c.1600A>G	c.(1600-1602)Aga>Gga	p.R534G	FAT2_uc010jhx.1_Missense_Mutation_p.R534G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	534	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGATGCTCTTACCCGGAAG	0.453000														55			21		0	0	0.00229938	0	0
LZTR1	8216	broad.mit.edu	37	22	21329027	21329027	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:21329027G>A	uc002ztj.2	+	7	860	c.642G>A	c.(640-642)cgG>cgA	p.R214R	LZTR1_uc002ztk.2_Silent_p.R214R|LZTR1_uc002ztl.2_Silent_p.R220R|LZTR1_uc011ahx.1_Silent_p.R202R	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACACTGCGGCAGGAGGGCT	0.652000														46			24		0	0	0.000878237	0	0
PRKX	5613	broad.mit.edu	37	X	3539349	3539349	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:3539349A>T	uc010nde.3	-	5	1205	c.824T>A	c.(823-825)aTt>aAt	p.I275N		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	275	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGTTTCTTAATGAGGTCTCT	0.423000														13			25		0	0	0.000720815	0	0
ZNF439	90594	broad.mit.edu	37	19	11978400	11978400	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11978400C>T	uc002mss.3	+	2	644	c.516C>T	c.(514-516)tcC>tcT	p.S172S	ZNF439_uc002msr.3_Silent_p.S36S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATCACCCCTCCTTGAGAACAC	0.413000														88			29		0	0	0.000878237	0	0
OR52M1	119772	broad.mit.edu	37	11	4567089	4567089	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:4567089G>A	uc010qyf.2	+	0	669	c.669G>A	c.(667-669)atG>atA	p.M223I		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATGTGATGATTTTCAGGG	0.512000														156			44		0	0	0.000781405	0	0
HSPB7	27129	broad.mit.edu	37	1	16342188	16342188	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:16342188G>A	uc001axr.2	-	2	1242	c.679C>T	c.(679-681)Ccg>Tcg	p.P227S	HSPB7_uc001axo.2_Missense_Mutation_p.P134S|HSPB7_uc001axp.2_Missense_Mutation_p.P217S|HSPB7_uc001axq.2_Missense_Mutation_p.P226S|HSPB7_uc001axs.2_Missense_Mutation_p.P209S	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	134					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGACGTCGGGTCCACGTCC	0.672000														47			21		0	0	0.00278032	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413224	1413224	+	Missense_Mutation	SNP	G	A	A	rs147844397		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:1413224G>A	uc010nct.2	+	8	972	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R217Q|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R217Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.R217Q|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.R84Q|CSF2RA_uc004cpp.2_Missense_Mutation_p.R217Q|CSF2RA_uc010ncv.2_Missense_Mutation_p.R217Q|CSF2RA_uc004cpr.2_Missense_Mutation_p.R217Q	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	217						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTTACAGAACGATTCAACCCT	0.582000														198			63		0	0	0.000781405	0	0
PLB1	151056	broad.mit.edu	37	2	28748147	28748147	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:28748147G>A	uc002rmb.2	+	4	301	c.257G>A	c.(256-258)gGg>gAg	p.G86E	PLB1_uc010ezj.2_Missense_Mutation_p.G86E	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	86	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAGACCCAGGGACGGGCGAT	0.507000														25			11		0	0	0.00185496	0	0
PTPRB	5787	broad.mit.edu	37	12	70986324	70986324	+	Splice_Site	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:70986324G>A	uc001swb.4	-	5	893	c.863_splice	c.e5-1	p.A288_splice	PTPRB_uc010sto.2_Splice_Site_p.A288_splice|PTPRB_uc010stp.2_Splice_Site_p.A288_splice|PTPRB_uc001swc.4_Splice_Site_p.A506_splice|PTPRB_uc001swa.4_Splice_Site_p.A506_splice|PTPRB_uc001swd.4_Splice_Site_p.A505_splice|PTPRB_uc009zrr.2_Splice_Site_p.A385_splice|PTPRB_uc001swe.3_Splice_Site_p.A506_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	288	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCCATGGGGGCTAATCAGG	0.403000														43			13		0	0	0.00185496	0	0
MME	4311	broad.mit.edu	37	3	154832934	154832934	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:154832934C>T	uc010hvr.1	+	3	559	c.348C>T	c.(346-348)gtC>gtT	p.V116V	MME_uc003fab.1_Silent_p.V116V|MME_uc003fac.1_Silent_p.V116V|MME_uc003fad.1_Silent_p.V116V|MME_uc003fae.1_Silent_p.V116V	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	116					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AACTAGAAGTCGTTTTGAAAG	0.363000														68			21		0	0	0.00229938	0	0
TSEN2	80746	broad.mit.edu	37	3	12545273	12545273	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:12545273C>A	uc003bxc.3	+	4	1208	c.821C>A	c.(820-822)cCa>cAa	p.P274Q	TSEN2_uc003bwz.3_Missense_Mutation_p.P215Q|TSEN2_uc003bxa.3_Missense_Mutation_p.P274Q|TSEN2_uc011auq.1_Missense_Mutation_p.P274Q|TSEN2_uc003bxb.3_Missense_Mutation_p.P274Q|TSEN2_uc011aur.1_Missense_Mutation_p.P183Q	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	274					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAGGCTGCCCCAAATGAGGAA	0.547000														324			8		0.000274275	0.00126504	0.000274275	1	0
COL4A4	1286	broad.mit.edu	37	2	227886845	227886846	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227886845_227886846GG>AA	uc021vxr.1	-	42	4235_4236	c.4134_4135CC>TT	c.(4132-4137)atccca>atTTca	p.P1379S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1376S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P1379Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAAGGCCTGGGATTCGGGGAC	0.579000														216			26		0	0	6.4e-05	0	0
CCDC170	80129	broad.mit.edu	37	6	151939261	151939261	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:151939261C>T	uc003qol.3	+	10	2216	c.2127C>T	c.(2125-2127)ggC>ggT	p.G709G	U6_uc021zgw.1_5'Flank	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	709																	ACCCACAAGGCCATTTACAGC	0.443000														57			17		0	0	0.000566183	0	0
DCTN1	1639	broad.mit.edu	37	2	74589260	74589260	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:74589260G>A	uc002skx.3	-	30	3936	c.3618C>T	c.(3616-3618)gtC>gtT	p.V1206V	SLC4A5_uc002skl.3_Non-coding_Transcript|DCTN1_uc002skt.2_Silent_p.V140V|DCTN1_uc002skv.3_Silent_p.V1072V|DCTN1_uc002sku.3_Silent_p.V1067V|DCTN1_uc002skw.2_Silent_p.V1199V|DCTN1_uc010ffd.3_Silent_p.V1181V|DCTN1_uc002sky.3_Silent_p.V1164V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	1206					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTCCTTGAGGACCTCATCCT	0.557000														34			9		0	0	0.000442599	0	0
MPLKIP	136647	broad.mit.edu	37	7	40172752	40172752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:40172752C>T	uc003thl.4	-	1	531	c.446G>A	c.(445-447)tGg>tAg	p.W149*	C7orf10_uc022acd.1_5'Flank|C7orf10_uc003thn.2_5'Flank|C7orf10_uc003tho.2_5'Flank	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN	Homo sapiens chromosome 7 open reading frame 11 (C7orf11), mRNA.	149					cell division|mitosis	microtubule organizing center|nucleus											TAGGCCAGCCCAAGGATCTTC	0.383000														89			32		0	0	0.00178596	0	0
APOBR	55911	broad.mit.edu	37	16	28506027	28506027	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:28506027C>T	uc002dqb.2	+	0	58	c.25C>T	c.(25-27)Cct>Tct	p.P9S	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_5'Flank|CLN3_uc002dpo.3_5'Flank|CLN3_uc002dpm.3_5'Flank|CLN3_uc010vcu.2_5'Flank|CLN3_uc010vcv.2_5'Flank|CLN3_uc002dpp.3_5'Flank|CLN3_uc002dpt.1_5'Flank|CLN3_uc002dpq.1_5'Flank|CLN3_uc010bye.1_5'Flank|CLN3_uc002dpr.1_5'Flank|CLN3_uc010byf.1_5'Flank|CLN3_uc002dps.1_5'Flank|CLN3_uc002dpu.1_5'Flank|CLN3_uc002dpw.1_5'Flank|CLN3_uc010vcw.1_5'Flank|CLN3_uc002dqa.2_5'Flank|CLN3_uc010vcx.1_5'Flank|CLN3_uc002dpx.1_5'Flank|CLN3_uc002dpy.1_5'Flank|CLN3_uc002dpz.1_5'Flank|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	9					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCTATACCTCCCTGGGCTGCA	0.607000														76			16		0	0	0.000308642	0	0
CXCL9	4283	broad.mit.edu	37	4	76927422	76927422	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:76927422G>A	uc003hjh.1	-	1	109	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	24					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCACTACTGGGGTTCCTGAG	0.428000														107			34		0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179399545	179399545	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179399545G>C	uc021vsy.1	-	306	94318	c.94093C>G	c.(94093-94095)Cat>Gat	p.H31365D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H25060D|TTN_uc021vta.1_Missense_Mutation_p.H24993D|TTN_uc021vtb.1_Missense_Mutation_p.H24868D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32292	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAATATTATGACTGTGTAAA	0.353000														105			24		0	0	0.000720815	0	0
ANAPC11	51529	broad.mit.edu	37	17	79857225	79857225	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:79857225C>T	uc002kby.1	+	2	369	c.217C>T	c.(217-219)Cca>Tca	p.P73S	ANAPC11_uc002kbv.1_Intron|ANAPC11_uc002kbw.1_Intron|ANAPC11_uc002kbx.1_Intron|ANAPC11_uc002kbz.1_Intron|ANAPC11_uc002kca.1_Intron|ANAPC11_uc002kcb.1_Intron|ANAPC11_uc002kcc.1_Intron|ANAPC11_uc010dih.1_Intron|NPB_uc002kcd.3_5'Flank	NM_001002244	NP_001002244	Q9NYG5	APC11_HUMAN	Homo sapiens anaphase promoting complex subunit 11 (ANAPC11), transcript variant 1, mRNA.	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACAGCTTCCCCAACGCCTGG	0.602000														32			11		0	0	0.000673444	0	0
MS4A13	503497	broad.mit.edu	37	11	60292761	60292761	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:60292761C>T	uc001nps.3	+	4	591	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	MS4A13_uc009ync.3_Intron|MS4A13_uc009ynd.3_Intron	NM_001012417	NP_001012417	Q5J8X5	M4A13_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 13 (MS4A13), transcript variant 1, mRNA.	90						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						AGAGTTGTCTCATTTTAATTC	0.279000														20			6		0	0	0.00198382	0	0
TTC12	54970	broad.mit.edu	37	11	113222880	113222880	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:113222880G>A	uc001pnv.3	+	15	1520	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K	TTC12_uc001pnu.3_Missense_Mutation_p.R466K|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.R316K	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	466							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACTACCCGAAGACACATGGCG	0.498000														52			17		0	0	0.00074312	0	0
MUC17	140453	broad.mit.edu	37	7	100686264	100686264	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:100686264C>T	uc003uxp.1	+	2	11620	c.11567C>T	c.(11566-11568)tCc>tTc	p.S3856F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3856						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTTCATTCTCCATACCTGCT	0.463000														82			15		0	0	0.00244969	0	0
HTR5A	3361	broad.mit.edu	37	7	154863008	154863008	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:154863008G>A	uc003wlu.1	+	0	463	c.399G>A	c.(397-399)acG>acA	p.T133T	LOC100128264_uc003wlt.2_Silent_p.A2A|LOC100128264_uc011kvt.1_Silent_p.A2A	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	133						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGAACGTGACGGCCATAGCCC	0.647000														32			13		0	0	0.00185496	0	0
SCN10A	6336	broad.mit.edu	37	3	38835370	38835370	+	Silent	SNP	C	T	T	rs138739418		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38835370C>T	uc003ciq.3	-	0	132	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	44					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTGGTCCTTCTGCTCCCTAT	0.542000														113			37		0	0	0.00128727	0	0
NFIA	4774	broad.mit.edu	37	1	61798192	61798192	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:61798192G>A	uc010oos.2	+	4	851	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	NFIA_uc001czy.3_Missense_Mutation_p.G204S|NFIA_uc001czw.3_Missense_Mutation_p.G212S|NFIA_uc001czv.3_Missense_Mutation_p.G212S	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	212					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AGGACATTTGGGCTTCCAGGA	0.338000														69			22		0	0	0.00229938	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371677	81371677	+	Silent	SNP	C	T	T	rs148741681		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:81371677C>T	uc009xry.3	+	2	223	c.141C>T	c.(139-141)atC>atT	p.I47I	SFTPA1_uc001kap.3_Silent_p.I32I|SFTPA1_uc001kar.3_Silent_p.I32I|SFTPA1_uc001kaq.3_Silent_p.I32I|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Intron|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	32	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCCCTGGTATCCCCGGCACTC	0.622000														105			29		0	0	0.00106085	0	0
TDRKH	11022	broad.mit.edu	37	1	151751698	151751698	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:151751698G>A	uc009wnb.1	-	4	624	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.R144C|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Missense_Mutation_p.R148C|TDRKH_uc001ezd.4_Missense_Mutation_p.R148C|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	148	KH 2.						RNA binding	p.R148C(2)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGATAGAACGAATTGTCTCG	0.398000														50			17		0	0	0.000958276	0	0
MMP26	56547	broad.mit.edu	37	11	5013318	5013318	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:5013318C>T	uc001lzv.3	+	4	738	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	240					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTTCCAGCTCAGTGCCGATG	0.478000														51			19		0	0	0.00229938	0	0
RIT2	6014	broad.mit.edu	37	18	40323474	40323474	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:40323474C>T	uc002lav.3	-	4	811	c.638G>A	c.(637-639)aGa>aAa	p.R213K	RIT2_uc010dnf.3_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	213					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATATTTTCTCTCTTCTTCTT	0.373000														73			34		0	0	0.00058488	0	0
NLRP5	126206	broad.mit.edu	37	19	56538654	56538654	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:56538654C>T	uc002qmj.3	+	6	1055	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	NLRP5_uc002qmi.3_Missense_Mutation_p.S333F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	352	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGATCATGTCCCGACCAGAA	0.547000														22			14		0	0	0.000422831	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153532	193153532	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:193153532C>T	uc003ftd.3	-	24	2781	c.2673_splice	c.e24-1	p.K891_splice	ATP13A4_uc010hzi.3_Splice_Site	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	891					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACGTCCTTCCCTGTGTAAG	0.403000														75			24		0	0	0.00278032	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857436	9857436	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:9857436C>T	uc010uym.2	-	13	4275	c.3965G>A	c.(3964-3966)gGa>gAa	p.G1322E	GRIN2A_uc002czo.4_Missense_Mutation_p.G1322E|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1322					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAAAAATTTCCCTCCAGAAG	0.527000														114			25		0	0	0.000720815	0	0
PM20D2	135293	broad.mit.edu	37	6	89855983	89855983	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:89855983C>T	uc003pmz.3	+	0	215	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	40							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GGCTGGGGGCCCTGAGCCGCG	0.731000														14			9		0	0	0.000442599	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175339	143175339	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:143175339G>A	uc003wdc.1	+	0	374	c.374G>A	c.(373-375)aGg>aAg	p.R125K	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	125					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGAAGTGGAGGTTCCCAGGG	0.512000														50			22		0	0	0.00229938	0	0
AOAH	313	broad.mit.edu	37	7	36588237	36588237	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:36588237C>T	uc022abu.1	-	14	1515	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	AOAH_uc003tfh.4_Missense_Mutation_p.G372R|AOAH_uc011kba.2_Missense_Mutation_p.G340R	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	372					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCATTTCCAATCATGGCA	0.443000														57			13		0	0	0.00244969	0	0
CDH6	1004	broad.mit.edu	37	5	31297434	31297434	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:31297434G>A	uc003jhe.2	+	3	922	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CDH6_uc003jhd.2_Missense_Mutation_p.D188N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D188N(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGATGCAGATGATCCAACATA	0.378000														69			20		0	0	0.00152264	0	0
OR8K5	219453	broad.mit.edu	37	11	55927605	55927605	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:55927605G>A	uc010rja.2	-	0	189	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCAAATGTCTGATAGAAAAGT	0.388000														67			26		0	0	0.00047179	0	0
SGSM1	129049	broad.mit.edu	37	22	25270513	25270513	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:25270513C>T	uc003abg.2	+	12	1580	c.1423C>T	c.(1423-1425)Ctc>Ttc	p.L475F	SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Missense_Mutation_p.L475F|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	475						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGACACTACTCTCCCCACGCC	0.642000														10			5		0	0	0.00198382	0	0
RRP12	23223	broad.mit.edu	37	10	99148021	99148021	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:99148021G>A	uc001knf.3	-	7	1144	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	RRP12_uc009xvm.3_Intron|RRP12_uc010qou.2_Silent_p.T274T|RRP12_uc009xvn.3_Silent_p.T235T	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	335						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATGGCTCAAGGTCATGACCC	0.597000														45			18		0	0	0.000566183	0	0
GPHN	10243	broad.mit.edu	37	14	67431951	67431951	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:67431951G>A	uc001xiy.3	+	7	1894	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	GPHN_uc001xiw.3_Missense_Mutation_p.R273Q|GPHN_uc001xix.3_Missense_Mutation_p.R291Q|GPHN_uc010tss.2_Missense_Mutation_p.R271Q|GPHN_uc010tst.2_Missense_Mutation_p.R227Q|GPHN_uc010tsu.2_Missense_Mutation_p.R181Q	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	258	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GTGCTCCCACGAGACACAGCC	0.468000			T	MLL	AL									67			33		0	0	0.000814825	0	0
DNAH2	146754	broad.mit.edu	37	17	7701129	7701129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:7701129C>T	uc002giu.1	+	51	8226	c.8212C>T	c.(8212-8214)Cga>Tga	p.R2738*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2738	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTGCTCTTCCGAGAGGCTAT	0.527000														60			29		0	0	0.00178596	0	0
KIAA1524	57650	broad.mit.edu	37	3	108288297	108288297	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:108288297G>A	uc003dxb.4	-	8	1321	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	KIAA1524_uc010hpv.1_5'Flank|KIAA1524_uc003dxc.1_Missense_Mutation_p.P192L|KIAA1524_uc010hpw.1_Missense_Mutation_p.P192L	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	351						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCGTCCAAAGGTTGGCTTAA	0.428000														31			11		0	0	0.000673444	0	0
SCTR	6344	broad.mit.edu	37	2	120221710	120221710	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:120221710C>T	uc002tma.3	-	5	851	c.625G>A	c.(625-627)Gat>Aat	p.D209N	SCTR_uc002tlz.3_Missense_Mutation_p.D31N	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	209					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGTGGGCATCGCAGTAGGTG	0.572000														89			28		0	0	0.001512	0	0
ZNF383	163087	broad.mit.edu	37	19	37734132	37734132	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:37734132C>T	uc002oft.1	+	7	1574	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	ZNF383_uc002ofs.1_Missense_Mutation_p.H267Y|ZNF383_uc002ofu.1_Missense_Mutation_p.H332Y	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.H332R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATACTGGTGA	0.433000														76			24		0	0	0.00106085	0	0
RRAGD	58528	broad.mit.edu	37	6	90097304	90097305	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:90097304_90097305CC>GT	uc003pnd.4	-	1	436_437	c.153_154GG>AC	c.(151-156)ctggac>ctACac	p.D52H	RRAGD_uc010kcc.3_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Homo sapiens Ras-related GTP binding D (RRAGD), mRNA.	52					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCACTGAAGTCCAGAACTGGAG	0.446000														204			58		0	0	6.4e-05	0	0
CCDC170	80129	broad.mit.edu	37	6	151907184	151907184	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:151907184G>A	uc003qol.3	+	6	1342	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	418																	CTGGTTTCTGGAGGTGTTTTG	0.463000														61			14		0	0	0.000308642	0	0
CUTC	51076	broad.mit.edu	37	10	101507035	101507035	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:101507035C>T	uc001kqd.4	+	5	609	c.461C>T	c.(460-462)cCa>cTa	p.P154L	CUTC_uc010qpk.2_Missense_Mutation_p.P154L|CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	154					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTTCATGATCCAATGGCAGCT	0.423000														95			22		0	0	0.00229938	0	0
SLC6A13	6540	broad.mit.edu	37	12	347111	347111	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:347111G>A	uc001qic.2	-	4	634	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P182S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P90S|SLC6A13_uc010sdm.1_Missense_Mutation_p.P63S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	182					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCGATGACAGGAGAGGTGGCA	0.532000														99			40		0	0	0.00148497	0	0
FBXL2	25827	broad.mit.edu	37	3	33418781	33418781	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:33418781C>T	uc003cfp.3	+	10	876	c.805C>T	c.(805-807)Cga>Tga	p.R269*	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Nonsense_Mutation_p.R185*|FBXL2_uc021wuy.1_Nonsense_Mutation_p.R201*|FBXL2_uc011axo.2_Nonsense_Mutation_p.R164*|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	269					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGGCTGCCCGATGCTCCCA	0.408000														87			41		0	0	0.000781405	0	0
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:2209550G>A	uc004cqf.4	-	3	430	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	127							binding|oxidoreductase activity	p.I127I(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443000														186			57		0	0	0.000781405	0	0
VWA3A	146177	broad.mit.edu	37	16	22144410	22144410	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:22144410G>C	uc010vbq.2	+	19	2158	c.2062G>C	c.(2062-2064)Gac>Cac	p.D688H	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.D696H	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	688	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGGTTTGGAGACACAGGTAC	0.562000														17			4		0	0	0.00024832	0	0
TACC2	10579	broad.mit.edu	37	10	123987465	123987465	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:123987465C>T	uc001lfv.3	+	13	8198	c.7838C>T	c.(7837-7839)tCc>tTc	p.S2613F	TACC2_uc001lfw.3_Missense_Mutation_p.S759F|TACC2_uc009xzx.3_Missense_Mutation_p.S2568F|TACC2_uc010qtv.2_Missense_Mutation_p.S2617F|TACC2_uc001lfx.3_Missense_Mutation_p.S317F|TACC2_uc001lfy.3_Missense_Mutation_p.S313F|TACC2_uc001lfz.3_Missense_Mutation_p.S691F|TACC2_uc001lga.3_Missense_Mutation_p.S691F|TACC2_uc009xzy.3_Missense_Mutation_p.S703F|TACC2_uc001lgb.3_Missense_Mutation_p.S648F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2613						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAGAAATCCTCCCAGAAG	0.562000														88			24		0	0	0.000878237	0	0
MYO3A	53904	broad.mit.edu	37	10	26455097	26455097	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:26455097G>A	uc001isn.2	+	26	3461	c.3101G>A	c.(3100-3102)gGa>gAa	p.G1034E	MYO3A_uc009xko.1_Missense_Mutation_p.G1034E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1034	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGGCTCTTGGAAAAACAAAA	0.398000														101			35		0	0	0.0024448	0	0
TECTA	7007	broad.mit.edu	37	11	120984327	120984327	+	Silent	SNP	C	T	T	rs34605023	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:120984327C>T	uc010rzo.2	+	4	690	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	230	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCCCGAGATCGTGAATATCC	0.493000														49			25		0	0	0.00047179	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357047	104357047	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:104357047G>A	uc004bbr.3	-	0	237	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	53	EF-hand 2.						calcium ion binding	p.P56S(2)|p.P56P(1)|p.P56L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CGCACCAACGGGTTGTGGCGC	0.557000														49			20		0	0	0.00152264	0	0
ZFP30	22835	broad.mit.edu	37	19	38125950	38125950	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:38125950C>T	uc002ogv.1	-	5	2008	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	ZFP30_uc002ogw.1_Missense_Mutation_p.E498K|ZFP30_uc002ogx.1_Missense_Mutation_p.E498K|ZFP30_uc010xtt.1_Missense_Mutation_p.E497K	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E498K(2)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTACATTCCTTACATTTG	0.338000														56			27		0	0	0.000586117	0	0
PRR13	54458	broad.mit.edu	37	12	53837387	53837387	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:53837387C>T	uc001scz.4	+	2	396	c.232C>T	c.(232-234)Cct>Tct	p.P78S	PRR13_uc001scy.4_Missense_Mutation_p.P28S|PCBP2_uc010soh.1_5'UTR|PRR13_uc001sda.4_Missense_Mutation_p.P78S	NM_018457	NP_060927	Q9NZ81	PRR13_HUMAN	Homo sapiens proline rich 13 (PRR13), transcript variant 2, mRNA.	78	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						GGGTCCCTACCCTCCTCCATA	0.607000														27			7		0	0	0.00244969	0	0
GNAQ	2776	broad.mit.edu	37	9	80336301	80336301	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:80336301C>G	uc004akw.3	-	6	1086	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L	GNAQ_uc011lso.2_Missense_Mutation_p.V138L|GNAQ_uc004akv.2_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	340					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCAGCAAAGACAAAGCGGATA	0.507000			Mis		uveal melanoma									29			12		0	0	0.00136819	0	0
ADO	84890	broad.mit.edu	37	10	64564987	64564988	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:64564987_64564988CC>TT	uc001jmg.3	+	0	472_473	c.168_169CC>TT	c.(166-171)agcctc>agTTtc	p.L57F		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	57							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCTGAAGAGCCTCCTGACCCA	0.708000														16			6		0	0	6.4e-05	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170463	90170463	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:90170463G>A	uc003hsm.1	-	1	1318	c.799C>T	c.(799-801)Cca>Tca	p.P267S	GPRIN3_uc021xqb.1_Missense_Mutation_p.P267S	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	267										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGGGGGGTTGGTTGAGGTGTC	0.557000														98			30		0	0	0.001512	0	0
TREML5P	221438	broad.mit.edu	37	6	41217168	41217168	+	RNA	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:41217168G>A	uc003oqe.1	+	0		c.54G>A								Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA.																		ACCGCATGGAGGGCAAGGTTT	0.567000														109			31		0	0	0.00283554	0	0
CASD1	64921	broad.mit.edu	37	7	94174935	94174935	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:94174935C>T	uc003uni.4	+	11	1782	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	CASD1_uc003unj.4_Missense_Mutation_p.P519S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	519						integral to membrane		p.P519S(2)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTTTGTCCCCTTGGTCAC	0.328000														73			7		0	0	0.000157383	0	0
EEA1	8411	broad.mit.edu	37	12	93244958	93244959	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:93244958_93244959CC>AT	uc001tck.3	-	8	991_992	c.726_727GG>AT	c.(724-729)ttggaa>ttATaa	p.E243*		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	243					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CGCTCACGTTCCAAGGTCATGT	0.381000														43			21		0	0	6.4e-05	0	0
MYH4	4622	broad.mit.edu	37	17	10346726	10346726	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:10346726C>T	uc002gmn.3	-	39	5897	c.5786G>A	c.(5785-5787)cGg>cAg	p.R1929Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1929					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAACCTCCCGACTCTTCAC	0.463000														87			25		0	0	0.00127121	0	0
MTMR7	9108	broad.mit.edu	37	8	17198909	17198909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:17198909C>T	uc003wxm.3	-	5	934	c.695G>A	c.(694-696)gGa>gAa	p.G232E	MTMR7_uc003wxn.3_Missense_Mutation_p.G11E	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	232	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAGTCACTTCCTGGATTGGC	0.557000														39			14		0	0	0.000422831	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919724	45919724	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:45919724G>A	uc001nbr.3	+	1	515	c.190G>A	c.(190-192)Gac>Aac	p.D64N	MAPK8IP1_uc010rgp.1_Missense_Mutation_p.D48N	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	64					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACAGTGCAAAGACACCCTGTC	0.562000														25			10		0	0	0.000442599	0	0
OGDHL	55753	broad.mit.edu	37	10	50964955	50964955	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:50964955G>A	uc009xog.3	-	1	357	c.323C>T	c.(322-324)gCc>gTc	p.A108V	OGDHL_uc001jie.3_Missense_Mutation_p.A81V|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	81					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCAGAAAAGGCTTCCTCGCT	0.597000														60			18		0	0	0.000958276	0	0
XIRP2	129446	broad.mit.edu	37	2	168100347	168100347	+	Silent	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:168100347A>G	uc002udx.3	+	8	2534	c.2445A>G	c.(2443-2445)caA>caG	p.Q815Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q640Q|XIRP2_uc010fpq.3_Silent_p.Q593Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	640					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAAACCCAACCTTTGGAGA	0.373000														89			34		0	0	0.000692331	0	0
INO80D	54891	broad.mit.edu	37	2	206921399	206921399	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:206921399C>T	uc002vaz.4	-	3	892	c.487G>A	c.(487-489)Ggg>Agg	p.G163R		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	163					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACAGTTGCCCCTTTCTTTAGG	0.498000														15			6		0	0	0.00198382	0	0
TRIM51	84767	broad.mit.edu	37	11	55659052	55659052	+	Missense_Mutation	SNP	C	T	T	rs148245438	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:55659052C>T	uc010rip.2	+	6	1395	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	TRIM51_uc010riq.2_Missense_Mutation_p.P292S	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	435	B30.2/SPRY.					intracellular	zinc ion binding	p.P435T(1)|p.P276T(1)									ATACACCATCCCCAATTGCTC	0.458000														116			38		0	0	0.00148497	0	0
ASMT	438	broad.mit.edu	37	X	1742187	1742187	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:1742187G>A	uc004cqd.3	+	2	441	c.225G>A	c.(223-225)gtG>gtA	p.V75V	ASMT_uc010ncy.3_Silent_p.V75V|ASMT_uc004cqe.3_Silent_p.V75V	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	75					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTGAAAGTGGAGACGAGGG	0.577000														48			18		0	0	0.000958276	0	0
WDR17	116966	broad.mit.edu	37	4	177100723	177100723	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:177100723C>T	uc003iuj.3	+	30	4265	c.3962C>T	c.(3961-3963)cCa>cTa	p.P1321L	WDR17_uc003ium.4_Missense_Mutation_p.P1282L|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.P532L	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1321										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGACTCAATCCATTCTGATAG	0.383000														70			17		0	0	0.00074312	0	0
TJP3	27134	broad.mit.edu	37	19	3734327	3734327	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:3734327A>T	uc010xhv.2	+	6	979	c.979A>T	c.(979-981)Atc>Ttc	p.I327F	TJP3_uc010xhs.2_Missense_Mutation_p.I294F|TJP3_uc010xht.2_Missense_Mutation_p.I258F|TJP3_uc010xhu.2_Missense_Mutation_p.I303F|TJP3_uc010xhw.2_Missense_Mutation_p.I313F	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	308						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCAGACATCTCGGACCT	0.612000														42			16		0	0	0.000566183	0	0
ACPL2	92370	broad.mit.edu	37	3	141011495	141011495	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:141011495C>T	uc003etu.3	+	7	1190	c.891C>T	c.(889-891)tcC>tcT	p.S297S	ACPL2_uc003etv.3_Silent_p.S297S|ACPL2_uc011bna.2_Silent_p.S259S|ACPL2_uc011bnb.2_Silent_p.S280S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	297						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CCATAGACTCCATGCTCTGCC	0.512000														50			13		0	0	0.00136819	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543247	21543247	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:21543247A>G	uc001vzp.3	+	2	1387	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	ARHGEF40_uc001vzn.1_Missense_Mutation_p.E453G|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	453					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAGCAGGCGAGAAAGAGCCT	0.562000														47			20		0	0	0.00152264	0	0
DOCK6	57572	broad.mit.edu	37	19	11327937	11327937	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11327937G>A	uc002mqs.4	-	28	3722	c.3681C>T	c.(3679-3681)tcC>tcT	p.S1227S	DOCK6_uc010xlq.2_Silent_p.S566S	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1227					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGCTGGCCCGGGAGCCAGGGG	0.572000														21			6		0	0	0.00116845	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	A	A	rs143537709		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38888526G>A	uc021wvy.1	-	25	5234	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(2)|p.R1679H(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000														64			18		0	0	0.00074312	0	0
LPA	4018	broad.mit.edu	37	6	161020674	161020674	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:161020674G>A	uc003qtl.3	-	20	3265	c.3145C>T	c.(3145-3147)Ccc>Tcc	p.P1049S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3557	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTACCCCGGGGGTTTCCTCA	0.423000														94			28		0	0	0.000720815	0	0
CASQ1	844	broad.mit.edu	37	1	160171137	160171137	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:160171137G>A	uc010pja.2	+	10	1419	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	388	Asp-rich.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATCAACACAGAGGACGATGA	0.537000														26			9		0	0	0.000442599	0	0
GRIK3	2899	broad.mit.edu	37	1	37271852	37271852	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:37271852C>T	uc001caz.2	-	13	2302	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	GRIK3_uc001cba.1_Missense_Mutation_p.E723K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	723					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGCCCTCCTCGTTGTTCTTC	0.592000														47			18		0	0	0.00152264	0	0
AP2A1	160	broad.mit.edu	37	19	50306388	50306388	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:50306388C>T	uc002ppn.3	+	17	2473	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.V732V|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.3_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	754					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACAACGGGGTCCTGTTCGAGA	0.632000														44			11		0	0	0.00185496	0	0
THBS3	7059	broad.mit.edu	37	1	155166937	155166937	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:155166937G>A	uc001fix.3	-	20	2672	c.2567C>T	c.(2566-2568)cCt>cTt	p.P856L	THBS3_uc021pat.1_Missense_Mutation_p.P253L|THBS3_uc010pfu.2_Missense_Mutation_p.P736L|THBS3_uc009wqi.3_Missense_Mutation_p.P847L|THBS3_uc001fiy.3_Missense_Mutation_p.P385L	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	856	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACCTGATCAGGGGTGTGGCC	0.582000														72			24		0	0	0.000586117	0	0
IQCH	64799	broad.mit.edu	37	15	67768157	67768157	+	Splice_Site	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:67768157G>A	uc002aqo.2	+	18	2896	c.2799_splice	c.e18+1	p.E933_splice	IQCH_uc002aqp.2_Splice_Site_p.E594_splice|IQCH_uc002aqq.2_Splice_Site_p.E590_splice|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	933										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGATGTTGAGGTATGAAGGGT	0.463000														44			13		0	0	0.000308642	0	0
THOC5	8563	broad.mit.edu	37	22	29921844	29921844	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:29921844G>A	uc003afr.3	-	12	1493	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	THOC5_uc003afq.3_Silent_p.I47I|THOC5_uc003afs.3_Silent_p.I386I|THOC5_uc003aft.3_Silent_p.I386I|THOC5_uc003afu.3_Silent_p.I386I	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	386					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding	p.L385L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGATGGGGGTGATCAGCTCCA	0.547000														78			27		0	0	0.00209593	0	0
OR4A5	81318	broad.mit.edu	37	11	51411595	51411595	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:51411595G>A	uc001nhi.2	-	0	854	c.801C>T	c.(799-801)ttC>ttT	p.F267F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACACAGTCATGAACTTATCAG	0.368000														45			7		0	0	0.00198382	0	0
CWH43	80157	broad.mit.edu	37	4	49046821	49046821	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:49046821C>T	uc003gyv.3	+	13	2004	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	CWH43_uc011bzl.2_Missense_Mutation_p.H581Y	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	608	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAGCACTGATCATGACAGATG	0.373000														74			19		0	0	0.000958276	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356754	37356754	+	Silent	SNP	C	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:37356754C>G	uc002xjc.3	+	1	1313	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	350					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.L350F(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCGTGCTCAAGGGCCTCT	0.617000														50			3		0	0	6.4e-05	0	0
SIK1	150094	broad.mit.edu	37	21	44839834	44839834	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:44839834G>A	uc002zdf.2	-	8	1151	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	342	UBA.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						AGCCGCTCAAGGAGGAGGTAA	0.612000														16			4		0	0	0.00024832	0	0
HDAC3	8841	broad.mit.edu	37	5	141008874	141008874	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:141008874C>T	uc003llf.2	-	7	543	c.477_splice	c.e7-1	p.K159_splice	HDAC3_uc003lle.1_Splice_Site_p.K102_splice|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	159	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	AGGGTGGTACCTAGAGGGAAG	0.547000														37			10		0	0	0.000673444	0	0
KSR2	283455	broad.mit.edu	37	12	117962858	117962858	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:117962858C>T	uc001two.2	-	13	1986	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	673					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGCCCTTTCCAATGAGCTC	0.622000														49			6		0	0	0.00198382	0	0
KCNK18	338567	broad.mit.edu	37	10	118957018	118957018	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:118957018C>T	uc010qsr.2	+	0	19	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	7						integral to membrane|plasma membrane		p.P7A(2)|p.P7P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCGGGGCACCCCCAGGCCAG	0.632000														57			26		0	0	0.00106085	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796660	42796660	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:42796660C>T	uc003osn.1	+	5	740	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	KIAA0240_uc003osm.1_Missense_Mutation_p.P197S|KIAA0240_uc011duw.1_Missense_Mutation_p.P197S|KIAA0240_uc003oso.1_Missense_Mutation_p.P197S|KIAA0240_uc003osp.1_Missense_Mutation_p.P197S	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	197										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GATCAGTGTTCCCAGCCAGCA	0.438000														109			42		0	0	0.000781405	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710258	31710258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:31710258C>T	uc021wuu.1	-	9	2643	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	OSBPL10_uc003ceu.1_Missense_Mutation_p.E415K|OSBPL10_uc011axf.2_Missense_Mutation_p.E594K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	658					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCATTCCATTCCCCATGGGCT	0.423000														118			15		0	0	0.000308642	0	0
R3HDM1	23518	broad.mit.edu	37	2	136479539	136479539	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:136479539C>T	uc002tuo.3	+	23	3192	c.2822C>T	c.(2821-2823)cCt>cTt	p.P941L	R3HDM1_uc010fni.3_Missense_Mutation_p.P940L|R3HDM1_uc002tup.3_Missense_Mutation_p.P886L|R3HDM1_uc010zbh.2_Missense_Mutation_p.P689L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	941							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAGTACAATCCTCCTGCTGTT	0.458000														60			13		0	0	0.00074312	0	0
FMN1	342184	broad.mit.edu	37	15	33194231	33194231	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:33194231C>T	uc001zhf.4	-	8	2719	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1130	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGGCTAACTCATGTAAAAAT	0.378000														60			19		0	0	0.00152264	0	0
IDE	3416	broad.mit.edu	37	10	94250265	94250266	+	Missense_Mutation	DNP	CG	AT	AT	rs150132183	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:94250265_94250266CG>AT	uc001kia.3	-	11	1593_1594	c.1517_1518CG>AT	c.(1516-1518)ccg>cAT	p.P506H	IDE_uc010qnp.2_5'UTR|IDE_uc001khz.3_5'UTR	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	506					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGACTTCATCCGGTATAGCTTC	0.421000														567			7		0	0	6.4e-05	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572532	101572532	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:101572532C>T	uc003dvp.3	+	4	1277	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	NFKBIZ_uc003dvo.3_Missense_Mutation_p.H288Y|NFKBIZ_uc010hpo.3_Missense_Mutation_p.H288Y|NFKBIZ_uc003dvq.3_Missense_Mutation_p.H266Y	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	388	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATGGTGGGGCACGAGATGGC	0.498000														90			24		0	0	0.00278032	0	0
EMBP1	647121	broad.mit.edu	37	1	121298784	121298784	+	RNA	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:121298784G>A	uc001eiu.1	+	2		c.591G>A								Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		CTTCTGAGAGGAAAAAGAACG	0.313000														8			3		0	0	6.4e-05	0	0
FPR3	2359	broad.mit.edu	37	19	52327351	52327352	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:52327351_52327352CC>TT	uc002pxt.1	+	1	534_535	c.350_351CC>TT	c.(349-351)acc>aTT	p.T117I	FPR3_uc021uyq.1_Missense_Mutation_p.T117I	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	117					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACCTGATCACCATCATTGCTC	0.490000														58			21		0	0	6.4e-05	0	0
PADI6	353238	broad.mit.edu	37	1	17723567	17723567	+	Splice_Site	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:17723567G>A	uc001bak.1	+	15	1619	c.1619_splice	c.e15-1	p.G540_splice		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	532					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTCCTACAGGAAGGGAAGCC	0.597000														16			5		0	0	0.00116845	0	0
FAM108A1	81926	broad.mit.edu	37	19	1877619	1877619	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:1877619G>A	uc002luf.3	-	4	1154	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	FAM108A1_uc002lud.3_Silent_p.T167T|FAM108A1_uc002lue.3_Silent_p.L199L|FAM108A1_uc002lug.3_Silent_p.L199L	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	199						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGAGGCCAGGTCCACGGTG	0.692000														25			5		0	0	0.00198382	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973485	31973485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:31973485G>A	uc011add.2	+	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R	KRTAP6-2_uc011adc.2_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	Homo sapiens keratin associated protein 22-1 (KRTAP22-1), mRNA.	16						intermediate filament		p.G16*(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						CTATGCCAAAGGAGGCCTGGG	0.483000														111			47		0	0	0.000781405	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703825	187703825	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:187703825G>A	uc002upu.1	-	3	395	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	119					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTGGTTGGGGAGTTTGAACT	0.393000														195			50		0	0	0.000781405	0	0
KLHL36	79786	broad.mit.edu	37	16	84691333	84691333	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:84691333G>A	uc002fig.3	+	2	1061	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	KLHL36_uc010chl.3_Missense_Mutation_p.R306Q	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	307										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTCTCCGAGCGGTGTCTGGAG	0.677000														16			10		0	0	0.000442599	0	0
ATP2A3	489	broad.mit.edu	37	17	3851089	3851089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:3851089C>T	uc002fwy.2	-	7	864	c.691G>A	c.(691-693)Gag>Aag	p.E231K	ATP2A3_uc002fwz.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E231K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E231K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	231					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TTGCCCAGCTCCGTGTGCAGG	0.667000														49			18		0	0	0.00188189	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045118	204045118	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:204045118G>A	uc002uzt.3	+	41	6724	c.6391G>A	c.(6391-6393)Gat>Aat	p.D2131N	NBEAL1_uc021vvj.1_Missense_Mutation_p.D834N	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2131	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGACTGTGCAGATCGACAGTT	0.348000														353			120		0	0	0.000781405	0	0
C19orf66	55337	broad.mit.edu	37	19	10202783	10202783	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:10202783G>A	uc002mmu.4	+	7	979	c.681G>A	c.(679-681)aaG>aaA	p.K227K	C19orf66_uc002mmv.4_Silent_p.K191K|C19orf66_uc002mmw.4_Silent_p.K176K	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	227										large_intestine(3)|skin(1)	4						CTCACCCCAAGAGCCGGAAGC	0.642000														65			13		0	0	0.000566183	0	0
AZU1	566	broad.mit.edu	37	19	831808	831808	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:831808C>T	uc002lpz.1	+	4	703	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	229	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	p.F228F(1)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACTTCTTCACCCGAGTGG	0.706000														45			8		0	0	0.000442599	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906293	906293	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:906293C>T	uc001ace.3	+	4	674	c.639C>T	c.(637-639)ccC>ccT	p.P213P	PLEKHN1_uc001acd.3_Silent_p.P173P|PLEKHN1_uc001acf.3_Silent_p.P173P	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	213	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTCTGCCCCAGCCGGGCCG	0.721000														31			9		0	0	0.000673444	0	0
TTC22	55001	broad.mit.edu	37	1	55253402	55253402	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:55253402C>T	uc009vzt.1	-	2	826	c.721G>A	c.(721-723)Gag>Aag	p.E241K	TTC22_uc001cxz.4_Missense_Mutation_p.E241K	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	241							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CGGGGGTCCTCGGACTTCAGC	0.652000														14			6		0	0	0.000157383	0	0
CBL	867	broad.mit.edu	37	11	119144732	119144732	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:119144732C>T	uc001pwe.3	+	3	883	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	249	Cbl-PTB.|SH2-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Q249E(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCGACTCTTTCAGGTAGGACA	0.368000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					98			8		0	0	0.000442599	0	0
RELN	5649	broad.mit.edu	37	7	103275910	103275910	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:103275910G>A	uc022ajr.1	-	18	2587	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	RELN_uc022ajq.1_Silent_p.L809L|RELN_uc010liz.3_Silent_p.L809L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	809					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATGCTCCAGGAGTTTCCAAG	0.428000														64			26		0	0	0.000720815	0	0
UNC5B	219699	broad.mit.edu	37	10	73053200	73053200	+	Missense_Mutation	SNP	C	T	T	rs145494820	by1000genomes	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:73053200C>T	uc001jro.3	+	11	2262	c.1811C>T	c.(1810-1812)tCg>tTg	p.S604L	UNC5B_uc001jrp.3_Missense_Mutation_p.S593L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	604	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTGAGCCCCTCGGTGACCTGT	0.622000														74			30		0	0	0.00209593	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43482359	43482359	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:43482359G>A	uc002iix.3	-	2	605	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ARHGAP27_uc010dak.3_Silent_p.P52P|ARHGAP27_uc010wjl.1_Silent_p.P193P	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	393	SH3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCAGCCGGGGGGTGTGGTCA	0.622000														57			17		0	0	0.000422831	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594448	140594448	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:140594448G>A	uc003lja.1	+	0	940	c.753G>A	c.(751-753)caG>caA	p.Q251Q		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	251	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGAGTGCAGATCTCTGAGG	0.512000														101			58		0	0	0.000781405	0	0
P2RX7	5027	broad.mit.edu	37	12	121603926	121603927	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:121603926_121603927CC>AA	uc001tzm.3	+	6	832_833	c.680_681CC>AA	c.(679-681)ccc>cAA	p.P227Q	P2RX7_uc001tzn.3_Missense_Mutation_p.P137Q|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Missense_Mutation_p.P57Q	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	227						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACAGTGTCCCATTTTCCGAC	0.436000														544			9		0	0	6.4e-05	0	0
LGI1	9211	broad.mit.edu	37	10	95553011	95553011	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:95553011G>T	uc001kjc.4	+	6	1078	c.742G>T	c.(742-744)Gag>Tag	p.E248*	LGI1_uc021pwk.1_Nonsense_Mutation_p.E248*|LGI1_uc010qnv.2_Nonsense_Mutation_p.E200*|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	248					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTTGAATGATGAGTATGTAGT	0.358000														74			25		3.6726e-16	1.70527e-15	0.000586117	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133670117	133670117	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:133670117C>T	uc003eqa.4	-	5	1070	c.796G>A	c.(796-798)Gct>Act	p.A266T	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.A98T	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	266					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACCAATAAAGCTGAAGAAATG	0.498000														55			25		0	0	0.00278032	0	0
MYOF	26509	broad.mit.edu	37	10	95083084	95083084	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:95083084G>A	uc001kin.3	-	46	5426	c.5303C>T	c.(5302-5304)cCc>cTc	p.P1768L	MYOF_uc001kio.3_Missense_Mutation_p.P1755L|MYOF_uc009xue.3_Intron	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1768					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.P1768L(2)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAAACTCTTGGGGAAAACATC	0.458000														82			24		0	0	0.00278032	0	0
SIK1	150094	broad.mit.edu	37	21	44838407	44838407	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:44838407G>A	uc002zdf.2	-	11	1604	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	493					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GTGGTGGAGGGGGAGACGACT	0.637000														25			8		0	0	0.000442599	0	0
TLR8	51311	broad.mit.edu	37	X	12939014	12939014	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:12939014C>T	uc004cvd.3	+	2	2079	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.R619C	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	619					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGGCAATCGCCTTGACAT	0.363000														22			31		0	0	0.00283554	0	0
GRIN1	2902	broad.mit.edu	37	9	140043520	140043520	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:140043520G>A	uc004clk.3	+	3	960	c.630G>A	c.(628-630)gaG>gaA	p.E210E	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Silent_p.E207E|GRIN1_uc004cln.3_Silent_p.E231E|GRIN1_uc004clo.3_Silent_p.E231E|GRIN1_uc004clm.3_Silent_p.E210E|GRIN1_uc004cll.3_Silent_p.E210E	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	210					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGCTGATGGAGGCGAAAGAGC	0.622000														13			6		0	0	0.000157383	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059214	152059214	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:152059214G>A	uc001ezo.1	-	2	1009	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	315							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTCTGAGATGGTGACCTGGC	0.453000														219			62		0	0	0.000781405	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217062	16217062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:16217062G>A	uc003car.4	+	0	879	c.404G>A	c.(403-405)tGg>tAg	p.W135*	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	135						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A137fs*2(1)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AAGAGGGACTGGGGGGCTGAT	0.642000														27			10		0	0	0.000673444	0	0
MEP1A	4224	broad.mit.edu	37	6	46787310	46787310	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:46787310C>T	uc011dwh.1	+	5	517	c.509C>T	c.(508-510)tCc>tTc	p.S170F	MEP1A_uc010jzh.1_Missense_Mutation_p.S142F|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.S42F	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	142	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.T170T(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAACATTTCCATTGGCCAA	0.448000														88			21		0	0	0.00121646	0	0
MYH1	4619	broad.mit.edu	37	17	10408281	10408281	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:10408281C>T	uc002gmo.3	-	21	2631	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	846						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCTCTGCACTTTTGAGGAG	0.463000														72			32		0	0	0.00209593	0	0
OR6N2	81442	broad.mit.edu	37	1	158747395	158747395	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:158747395C>T	uc010pir.2	-	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AACACAAATTCAGCCAGGCTT	0.463000														36			13		0	0	0.00136819	0	0
SYT2	127833	broad.mit.edu	37	1	202566006	202566006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:202566006G>A	uc001gye.3	-	8	1332	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SYT2_uc010pqb.2_Missense_Mutation_p.A380V|SYT2_uc009xaf.3_Missense_Mutation_p.A210V	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	380					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGTGCCCGTGGCATTGCTGCC	0.602000														62			14		0	0	0.00185496	0	0
CACNG5	27091	broad.mit.edu	37	17	64876763	64876763	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:64876763C>T	uc010wqi.2	+	3	610	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	CACNG5_uc010wqj.2_Missense_Mutation_p.P125S	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	125					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.R124R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ACACATCCGTCCCCACCGGAC	0.453000														143			46		0	0	0.000781405	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448123	121448123	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:121448123G>A	uc010hrc.3	-	3	440	c.314C>T	c.(313-315)aCt>aTt	p.T105I	GOLGB1_uc003eei.4_Missense_Mutation_p.T105I|GOLGB1_uc003eej.4_Missense_Mutation_p.T66I|GOLGB1_uc021xcy.1_Missense_Mutation_p.T66I|GOLGB1_uc011bjm.1_Missense_Mutation_p.T66I|GOLGB1_uc010hrd.1_Missense_Mutation_p.T105I	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	105					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTCAAAGAAGTTAATTTGGC	0.368000														72			30		0	0	0.00127121	0	0
LRP1B	53353	broad.mit.edu	37	2	141819768	141819768	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:141819768C>T	uc002tvj.1	-	7	2060	c.1088G>A	c.(1087-1089)aGg>aAg	p.R363K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	363					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R363S(1)|p.R363R(1)		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)		ATCAATTATCCTTGTTCGGTT	0.408000										TSP Lung(27;0.18)				57			19		0	0	0.00152264	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064434	78064434	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:78064434C>T	uc002ffh.4	+	2	371	c.290C>T	c.(289-291)tCc>tTc	p.S97F	CLEC3A_uc021tlr.1_Missense_Mutation_p.S45F	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTGCATTTCCAAAGGAGGA	0.473000														49			22		0	0	0.00229938	0	0
ZNF652	22834	broad.mit.edu	37	17	47390188	47390188	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:47390188G>A	uc002iov.4	-	2	1384	c.920C>T	c.(919-921)tCg>tTg	p.S307L	ZNF652_uc002iow.3_Missense_Mutation_p.S307L|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTTCTTGAACGATTTGTTACA	0.393000														90			27		0	0	0.00127121	0	0
WIPI2	26100	broad.mit.edu	37	7	5269331	5269331	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:5269331G>A	uc003snv.3	+	11	1430	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	WIPI2_uc003snw.3_Missense_Mutation_p.G405E|WIPI2_uc003snx.3_Missense_Mutation_p.G387E|WIPI2_uc003sny.3_Missense_Mutation_p.G387E|WIPI2_uc010ksv.3_Missense_Mutation_p.G261E|WIPI2_uc003soa.3_Missense_Mutation_p.G346E	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	405					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGCTGCAGGAAAAGGTACT	0.567000														31			7		0	0	0.000157383	0	0
RFWD2	64326	broad.mit.edu	37	1	175956239	175956239	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:175956239C>T	uc001gku.1	-	18	2229	c.1973_splice	c.e18-1	p.G658_splice	RFWD2_uc001gkv.1_Splice_Site_p.G634_splice|RFWD2_uc001gkw.1_Splice_Site_p.G418_splice|RFWD2_uc009wwv.2_Splice_Site_p.G457_splice|RFWD2_uc001gkt.1_Splice_Site_p.G497_splice	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	658					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTTCACTTCCTGAAAACAA	0.303000														34			9		0	0	0.000442599	0	0
MYT1L	23040	broad.mit.edu	37	2	1795710	1795710	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:1795710G>A	uc002qxe.3	-	24	4317	c.3490C>T	c.(3490-3492)Cgt>Tgt	p.R1164C	MYT1L_uc002qxd.3_Missense_Mutation_p.R1162C|MYT1L_uc010ewk.3_Missense_Mutation_p.R162C	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1164					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCTGATAACGATCTTGATTT	0.363000														56			26		0	0	0.000586117	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729993	37729993	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:37729993G>A	uc003xkm.2	-	3	2383	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P105L|RAB11FIP1_uc003xko.1_Missense_Mutation_p.P105L|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	776					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGCTCCCATGGGAAGAGGGGG	0.557000														69			15		0	0	0.000566183	0	0
TTLL3	26140	broad.mit.edu	37	3	9839372	9839372	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:9839372C>T	uc003btd.4	+	1	607	c.33C>T	c.(31-33)gcC>gcT	p.A11A	TTLL3_uc003btb.2_5'UTR|TTLL3_uc003bta.2_5'UTR|TTLL3_uc003bsz.2_Silent_p.A11A|TTLL3_uc003btc.2_5'UTR|TTLL3_uc021wsu.1_Silent_p.A30A	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN	Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.	0					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACCTGAGTGCCGTGCGGGCCA	0.552000														72			25		0	0	0.00106085	0	0
USP6	9098	broad.mit.edu	37	17	5048111	5048111	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:5048111G>A	uc002gau.1	+	25	4175	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	USP6_uc002gav.1_Missense_Mutation_p.E649K|USP6_uc010ckz.1_Missense_Mutation_p.E332K	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	649					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCATATGTGGAACTGAAGGA	0.443000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									81			32		0	0	0.00209593	0	0
ALLC	55821	broad.mit.edu	37	2	3749980	3749980	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:3749980G>A	uc010ewt.3	+	11	1164	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ALLC_uc002qyf.3_Missense_Mutation_p.D106N	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	354							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCATCTGTTCGATAGCCTGAC	0.592000										HNSCC(21;0.051)				17			9		0	0	0.000442599	0	0
RFC2	5982	broad.mit.edu	37	7	73653299	73653299	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:73653299G>A	uc003uaj.3	-	7	738	c.713C>T	c.(712-714)tCc>tTc	p.S238F	RFC2_uc003uak.3_Missense_Mutation_p.S204F	NM_181471	NP_852136	P35250	RFC2_HUMAN	Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA.	238					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGAGAAGGTGGACTGCAGGTT	0.468000														39			11		0	0	0.00136819	0	0
RP1	6101	broad.mit.edu	37	8	55534763	55534763	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:55534763C>T	uc003xsd.1	+	2	850	c.702C>T	c.(700-702)atC>atT	p.I234I	RP1_uc011ldy.1_Silent_p.I234I	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	234					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTATGACATCCAAAAATACT	0.478000														48			19		0	0	0.00074312	0	0
TRIML1	339976	broad.mit.edu	37	4	189063519	189063519	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:189063519G>A	uc003izm.1	+	2	733	c.618G>A	c.(616-618)gaG>gaA	p.E206E	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	206					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448000														59			20		0	0	0.00121646	0	0
MCHR2	84539	broad.mit.edu	37	6	100382356	100382356	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:100382356G>A	uc003pqh.1	-	4	940	c.625C>T	c.(625-627)Cct>Tct	p.P209S	MCHR2_uc003pqi.1_Missense_Mutation_p.P209S	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGGGTAGAGGGAAAAAAAAA	0.338000														71			29		0	0	0.00127121	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715719	77715719	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:77715719C>T	uc001xtf.2	+	20	2168	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	TMEM63C_uc010asq.1_Silent_p.I652I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	652						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACGAGCAGATCCACATGGCTG	0.547000														57			30		0	0	0.00178596	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	G	G	rs112443847		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:72821618A>G	uc002fck.3	-	9	11230	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.G2605G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(6)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000														23			3		0	0	0.00024832	0	0
C3orf25	90288	broad.mit.edu	37	3	129140317	129140317	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:129140317C>T	uc003emg.3	-	1	542	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						GGCTTGTTCTCCAGCCACCTC	0.567000														60			23		0	0	0.00188189	0	0
HECW2	57520	broad.mit.edu	37	2	197185159	197185159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:197185159G>A	uc002utm.1	-	7	1072	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	297					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGAGCATTTGATCACTGCAA	0.507000														23			8		0	0	0.000442599	0	0
SMEK2	57223	broad.mit.edu	37	2	55808763	55808763	+	Silent	SNP	A	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:55808763A>T	uc002rzc.3	-	7	1997	c.1305T>A	c.(1303-1305)gtT>gtA	p.V435V	SMEK2_uc002rzb.3_Silent_p.V435V|SMEK2_uc002rzd.3_Silent_p.V435V|SMEK2_uc002rza.3_Silent_p.V311V	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	435						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCATTAACTGAACAGCGCCTC	0.368000														73			30		0	0	0.001512	0	0
ACTA1	58	broad.mit.edu	37	1	229567343	229567343	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:229567343G>A	uc001htm.3	-	6	1142	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	346					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGCCAGGATGGAGCCGCCGAT	0.637000														83			28		0	0	0.00283554	0	0
CDH6	1004	broad.mit.edu	37	5	31299677	31299677	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:31299677G>A	uc003jhe.2	+	4	1110	c.750G>A	c.(748-750)ggG>ggA	p.G250G	CDH6_uc003jhd.2_Silent_p.G250G	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	250	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATTATCTGGGACCACCACCG	0.483000														59			21		0	0	0.00121646	0	0
PRB3	5544	broad.mit.edu	37	12	11420800	11420800	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:11420800C>T	uc001qzs.3	-	2	421	c.383G>A	c.(382-384)gGa>gAa	p.G128E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	128	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.642000														105			53		0	0	0.000781405	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537935	90537935	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:90537935C>T	uc010mqi.3	+	3	3142	c.3113C>T	c.(3112-3114)aCt>aTt	p.T1038I	FAM75C1_uc004apq.4_Missense_Mutation_p.T1021I|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCACCAGTCACTGCTGAGAGC	0.443000														30			26		0	0	0.000878237	0	0
COL9A1	1297	broad.mit.edu	37	6	70966489	70966489	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:70966489C>T	uc003pfg.4	-	20	1644	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	COL9A1_uc003pfe.4_Silent_p.Q68Q|COL9A1_uc003pff.4_Silent_p.Q252Q	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	495	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGAAGACCCTGAGGCCCAG	0.403000														46			11		0	0	0.000978159	0	0
CAMK2B	816	broad.mit.edu	37	7	44266118	44266118	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:44266118G>A	uc003tkq.2	-	19	1804	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Missense_Mutation_p.P165S	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	532					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TACTTACATGGGGTGGGCAGG	0.711000														15			6		0	0	0.00198382	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														45			16		0	0	0.000566183	0	0
TP63	8626	broad.mit.edu	37	3	189526267	189526267	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:189526267C>T	uc003fry.2	+	3	620	c.531C>T	c.(529-531)ttC>ttT	p.F177F	TP63_uc003frx.2_Silent_p.F177F|TP63_uc003frz.2_Silent_p.F177F|TP63_uc010hzc.1_Silent_p.F177F|TP63_uc003fsa.2_Silent_p.F83F|TP63_uc003fsb.2_Silent_p.F83F|TP63_uc003fsc.2_Silent_p.F83F|TP63_uc003fsd.2_Silent_p.F83F|TP63_uc021xir.1_Silent_p.F83F|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.F58F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	177				F -> S (in Ref. 1; BAA32433).	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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F177F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCACAGTTTCGACGTGTCCT	0.652000										HNSCC(45;0.13)				41			12		0	0	0.00185496	0	0
MAPK4	5596	broad.mit.edu	37	18	48252450	48252450	+	Silent	SNP	A	C	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:48252450A>C	uc002lev.3	+	4	1972	c.972A>C	c.(970-972)tcA>tcC	p.S324S	MAPK4_uc010xdm.2_Silent_p.S113S|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	324					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCCCACCTCACAACACCCCT	0.577000														48			19		0	0	0.00074312	0	0
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:98084132G>A	uc001kmf.3	+	5	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	287	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453000														75			30		0	0	0.00127121	0	0
NAALAD2	10003	broad.mit.edu	37	11	89892432	89892432	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:89892432G>A	uc001pdf.4	+	7	1025	c.916G>A	c.(916-918)Gat>Aat	p.D306N	NAALAD2_uc009yvx.3_Intron|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	306	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCTCCACCAGATAAGAGTTG	0.373000														49			13		0	0	0.000308642	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150322	203150322	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:203150322C>T	uc001gzi.2	-	6	850	c.679G>A	c.(679-681)Gag>Aag	p.E227K	CHI3L1_uc001gzk.1_Missense_Mutation_p.E24K|CHI3L1_uc001gzj.2_Missense_Mutation_p.E227K|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	227					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTTGCATCCTCCTGACCTCGG	0.572000														90			28		0	0	0.00209593	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499762	104499762	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:104499762G>A	uc004bbp.2	-	0	1101	c.500C>T	c.(499-501)tCc>tTc	p.S167F	GRIN3A_uc004bbq.1_Missense_Mutation_p.S167F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	167					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTAGGGGAGGAGAAGGGCAA	0.597000														27			11		0	0	0.000978159	0	0
MAGI1	9223	broad.mit.edu	37	3	65367622	65367622	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:65367622G>A	uc003dmn.3	-	15	3157	c.2631C>T	c.(2629-2631)gtC>gtT	p.V877V	MAGI1_uc003dmm.3_Silent_p.V905V|MAGI1_uc003dmo.3_Silent_p.V905V|MAGI1_uc003dmp.3_Silent_p.V877V|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Silent_p.V188V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	905	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCATAAGCTGGACCACAAGCT	0.502000														69			17		0	0	0.00074312	0	0
PLEKHN1	84069	broad.mit.edu	37	1	905948	905948	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:905948C>T	uc001ace.3	+	3	413	c.378C>T	c.(376-378)ttC>ttT	p.F126F	PLEKHN1_uc001acd.3_Silent_p.F126F|PLEKHN1_uc001acf.3_Silent_p.F126F	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	126	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACCTGTACTTCCAGGCCCACG	0.657000														48			12		0	0	0.00244969	0	0
HAP1	9001	broad.mit.edu	37	17	39887995	39887995	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:39887995C>T	uc002hxm.1	-	5	909	c.897_splice	c.e5-1	p.L299_splice	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Splice_Site_p.L299_splice|HAP1_uc002hxo.1_Splice_Site_p.L307_splice|HAP1_uc002hxp.1_Splice_Site_p.L299_splice	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	299	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTGCGAAATCCTAGGGGAGG	0.592000														31			8		0	0	0.000157383	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650748	1650748	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:1650748C>T	uc002ftk.1	+	6	734	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SERPINF2_uc010vqr.1_Silent_p.F155F|SERPINF2_uc021tnm.1_Silent_p.F219F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	219					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TTCAGGAATTCCTCTCTGGGC	0.587000														17			9		0	0	0.000274275	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126410	62126410	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:62126410G>A	uc002yfe.1	-	3	535	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	123						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGCCCGCCTCGAACTCGCCCA	0.677000														67			25		0	0	0.000720815	0	0
C11orf35	256329	broad.mit.edu	37	11	555754	555754	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:555754C>T	uc001lpx.3	-	11	1617	c.1554G>A	c.(1552-1554)cgG>cgA	p.R518R	AX748330_uc001lpy.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	518	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCGACTGACCCGGGGCTCCC	0.766000														10			3		0	0	6.4e-05	0	0
SH2D7	646892	broad.mit.edu	37	15	78390328	78390328	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:78390328C>T	uc010blb.1	+	2	324	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	108	SH2.									endometrium(2)|kidney(2)|lung(3)	7						GGCGTTACATCATCTCAGGAG	0.572000														33			13		0	0	0.000308642	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425854	72425854	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:72425854C>T	uc010iic.3	+	22	3099	c.2982C>T	c.(2980-2982)ttC>ttT	p.F994F	SLC4A4_uc003hfy.3_Silent_p.F994F|SLC4A4_uc010iib.3_Silent_p.F910F|SLC4A4_uc003hfz.3_Silent_p.F994F|SLC4A4_uc003hgc.4_Silent_p.F950F|SLC4A4_uc010iid.3_Silent_p.F198F	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	994						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACTACCTCTTCTCCCAGCACG	0.418000														111			36		0	0	0.000692331	0	0
WASF2	10163	broad.mit.edu	37	1	27736342	27736343	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:27736342_27736343GG>AA	uc001bof.2	-	7	1407_1408	c.1182_1183CC>TT	c.(1180-1185)ccccct>ccTTct	p.P395S	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	395	Poly-Pro.				G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		ggaggaggagggggaggaggag	0.639000														37			15		0	0	6.4e-05	0	0
CENPE	1062	broad.mit.edu	37	4	104070357	104070357	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:104070357C>T	uc003hxb.1	-	26	3695	c.3605G>A	c.(3604-3606)aGa>aAa	p.R1202K	CENPE_uc003hxc.1_Missense_Mutation_p.R1177K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1202					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.E1201*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAGAACTTTTCTTTCTTTGGT	0.333000														81			24		0	0	0.00229938	0	0
RHPN1	114822	broad.mit.edu	37	8	144463809	144463809	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:144463809G>T	uc003yyb.3	+	12	1689	c.1556G>T	c.(1555-1557)gGa>gTa	p.G519V		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	544					signal transduction	intracellular		p.R518R(1)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGACCCGAGGAGAGGGCGGC	0.711000														34			6		8.12818e-05	0.000375522	0.00198382	1	0
GCOM1	145781	broad.mit.edu	37	15	58001015	58001015	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:58001015G>A	uc002aet.4	+	1	357	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	GCOM1_uc002aem.3_Intron|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Intron|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Intron|GCOM1_uc002aev.1_3'UTR|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aeu.4_Intron	NM_015532	NP_056347	P0CAP1	GCOM1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide M (POLR2M), transcript variant 1, mRNA.	370					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGAAAAAGTGAACTGTTTAA	0.388000														72			29		0	0	0.000878237	0	0
PXDNL	137902	broad.mit.edu	37	8	52321683	52321683	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:52321683G>A	uc003xqu.4	-	16	2602	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	834					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTGCAGACGGAGCTGCACGG	0.677000														22			6		0	0	0.00116845	0	0
CCDC18	343099	broad.mit.edu	37	1	93724338	93724338	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:93724338G>A	uc021opx.1	+	25	3741	c.3580G>A	c.(3580-3582)Ggg>Agg	p.G1194R	CCDC18_uc001dpr.1_Missense_Mutation_p.G107R	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	1193										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAGAACTGGGGGCTTCTAA	0.333000														49			16		0	0	0.00074312	0	0
OR8I2	120586	broad.mit.edu	37	11	55861627	55861627	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:55861627C>T	uc010rix.2	+	0	844	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATTGTCATTCCCATGCTGAA	0.393000														39			18		0	0	0.00074312	0	0
ITGA5	3678	broad.mit.edu	37	12	54798248	54798248	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:54798248C>A	uc001sga.3	-	13	1497	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	477					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.G477G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCAAAGGACCCCACAATCAGA	0.498000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		373			8		0.000442599	0.00203802	0.000442599	1	0
C3orf32	51066	broad.mit.edu	37	3	8667281	8667281	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:8667281C>T	uc011atg.2	-	9	860	c.820G>A	c.(820-822)Gag>Aag	p.E274K	C3orf32_uc003bqz.3_Missense_Mutation_p.E252K|C3orf32_uc003bqt.3_Missense_Mutation_p.E201K|C3orf32_uc003bqu.3_Missense_Mutation_p.E252K|C3orf32_uc003bqv.3_Missense_Mutation_p.E201K|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.E252K	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	252										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						GCAAGGAGCTCCCTGGGGCAG	0.507000														51			17		0	0	0.000958276	0	0
PTAFR	5724	broad.mit.edu	37	1	28477362	28477362	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:28477362C>T	uc009vte.3	-	2	506	c.171G>A	c.(169-171)gtG>gtA	p.V57V	PTAFR_uc021ojz.1_Silent_p.V57V|PTAFR_uc001bpl.3_Silent_p.V57V|PTAFR_uc001bpm.4_Silent_p.V57V|PTAFR_uc021oka.1_Silent_p.V57V	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	57					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGAGGTTCACCATGAAGA	0.488000														38			14		0	0	0.00244969	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:77401601C>T	uc002ffc.4	-	3	934	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(2)|p.R172G(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000														40			8		0	0	0.000274275	0	0
KCNT1	57582	broad.mit.edu	37	9	138671233	138671233	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:138671233G>A	uc011mdq.2	+	23	2832	c.2758G>A	c.(2758-2760)Gag>Aag	p.E920K	KCNT1_uc011mdr.2_Missense_Mutation_p.E747K|KCNT1_uc010nbf.3_Missense_Mutation_p.E875K|KCNT1_uc004cgo.1_Missense_Mutation_p.E669K	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	920						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATCACCACGGAGCTCACCCA	0.632000														103			32		0	0	0.000692331	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527578	70527578	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:70527578C>T	uc001xly.3	-	2	2617	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.P621P|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Silent_p.P621P|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	621					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCATCCATTTCGGTTCACCAA	0.343000														70			18		0	0	0.00152264	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972687	92972687	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:92972687C>T	uc022axs.1	-	11	1962	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R506Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.R506Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R496Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R533Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.R533Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.R506Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R544Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.R533Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.R513Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.R533Q|RUNX1T1_uc010man.2_Missense_Mutation_p.R158Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R496Q	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	533					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCACAGTATCGGGCTGTGTT	0.522000														60			15		0	0	0.000308642	0	0
FAM190B	54462	broad.mit.edu	37	10	86237419	86237419	+	Splice_Site	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:86237419C>T	uc010qmd.1	+	9	2519	c.2325_splice	c.e9+1	p.P775_splice	FAM190B_uc001kdh.1_Splice_Site_p.P775_splice|FAM190B_uc001kdi.1_Splice_Site|FAM190B_uc010qme.1_Splice_Site_p.P202_splice			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	775										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						AGACGAATTCCTGTAAGTAAC	0.358000														15			6		0	0	0.00116845	0	0
WASH3P	374666	broad.mit.edu	37	15	102515282	102515282	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:102515282G>A	uc002cdi.3	+	8	1926	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GAGTCCATCCGCCAAGCTGGG	0.652000														10			5		0	0	0.000274275	0	0
PSENEN	55851	broad.mit.edu	37	19	36237720	36237720	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:36237720C>T	uc002obi.1	+	3	482	c.278C>T	c.(277-279)tCc>tTc	p.S93F	IGFLR1_uc010eej.3_5'Flank|U2AF1L4_uc002obe.3_5'Flank|U2AF1L4_uc002obf.3_5'Flank|U2AF1L4_uc002obg.3_5'Flank|U2AF1L4_uc002obh.1_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.S93F|PSENEN_uc002obk.1_Intron|LIN37_uc021usw.1_5'Flank	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	Homo sapiens presenilin enhancer 2 homolog (C. elegans) (PSENEN), mRNA.	93					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACTACCTCTCCTTCACCATA	0.592000														48			12		0	0	0.00185496	0	0
ASAH2	56624	broad.mit.edu	37	10	52005144	52005144	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:52005144G>A	uc001jjd.3	-	1	198	c.198C>T	c.(196-198)cgC>cgT	p.R66R	ASAH2_uc009xos.3_Silent_p.R66R	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGGCTGTGGAGCGTTGGGCAG	0.502000														49			16		0	0	0.000566183	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028972	68028972	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:68028972C>T	uc001xjl.1	+	6	766	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	208						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCTCCCAGGCCCAGGGTCTGA	0.612000														21			6		0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	38937180	38937180	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:38937180C>T	uc002oit.3	+	7	830	c.700C>T	c.(700-702)Cct>Tct	p.P234S	RYR1_uc002oiu.3_Missense_Mutation_p.P234S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	234	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACCATTTCCCCTGCTGACAG	0.592000														41			16		0	0	0.000958276	0	0
SCML2	10389	broad.mit.edu	37	X	18338476	18338476	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:18338476C>T	uc004cyl.2	-	5	619	c.462G>A	c.(460-462)atG>atA	p.M154I	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.M154I|SCML2_uc011miz.1_Missense_Mutation_p.M88I	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	154					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGCAGATGCCATTTCAGACC	0.343000														27			28		0	0	0.00127121	0	0
CRLF2	64109	broad.mit.edu	37	X	1317494	1317494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:1317494C>T	uc004cpk.2	-	4	573	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CRLF2_uc022brt.1_Missense_Mutation_p.E191K|CRLF2_uc004cpl.2_Missense_Mutation_p.E79K|CRLF2_uc022brs.1_Missense_Mutation_p.E191K	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	191	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATACATCCTCCATAGCCTTC	0.507000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									78			18		0	0	0.000958276	0	0
DHCR7	1717	broad.mit.edu	37	11	71148959	71148959	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:71148959C>T	uc001oqk.3	-	7	1112	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	DHCR7_uc001oql.3_Missense_Mutation_p.E288K	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	288					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	TACCAGGTTTCGTTCCAGAAG	0.587000									Smith-Lemli-Opitz syndrome					64			30		0	0	0.00127121	0	0
ADCY3	109	broad.mit.edu	37	2	25141736	25141737	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:25141736_25141737GG>AA	uc010ykm.2	-	0	319_320	c.120_121CC>TT	c.(118-123)gtccgg>gtTTgg	p.R41W	ADCY3_uc002rfs.4_Missense_Mutation_p.R41W	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	41					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCGAGTTCCGGACCGAGATTT	0.634000														40			10		0	0	6.4e-05	0	0
IL1F10	84639	broad.mit.edu	37	2	113832373	113832373	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:113832373G>A	uc002tiu.3	+	3	267	c.192G>A	c.(190-192)ggG>ggA	p.G64G	IL1F10_uc002tiv.3_Silent_p.G64G|IL1F10_uc002tiw.3_Silent_p.G56G	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	64						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCAGGGAGGGAGCCGCTGCC	0.587000														47			19		0	0	0.000958276	0	0
PADI1	29943	broad.mit.edu	37	1	17531743	17531743	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:17531743C>T	uc001bah.1	+	0	123	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	11					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCAGCTGTCCCTGAAGATGCC	0.612000														25			10		0	0	0.000978159	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647858	121647858	+	Silent	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:121647858G>A	uc003eep.2	+	15	1524	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	SLC15A2_uc011bjn.1_Silent_p.L426L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	457					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AACTGCACCTGAAAACAAAAA	0.393000														122			40		0	0	0.00170553	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564304	46564305	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:46564304_46564305CC>TT	uc001ncv.2	-	7	1306_1307	c.992_993GG>AA	c.(991-993)cgg>cAA	p.R331Q	AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.R421Q|AMBRA1_uc001ncu.1_Missense_Mutation_p.R331Q|AMBRA1_uc010rgu.1_Missense_Mutation_p.R421Q|AMBRA1_uc001ncw.2_Missense_Mutation_p.R331Q|AMBRA1_uc001ncx.2_Missense_Mutation_p.R421Q	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	403					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGAGTACTGTCCGGGTCCACTC	0.594000														75			28		0	0	6.4e-05	0	0
KCNT2	343450	broad.mit.edu	37	1	196577363	196577363	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:196577363C>T	uc001gtd.1	-	0	137	c.77G>A	c.(76-78)gGa>gAa	p.G26E	KCNT2_uc001gte.1_Missense_Mutation_p.G26E|KCNT2_uc001gtf.1_Missense_Mutation_p.G26E|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.G26E|KCNT2_uc009wyv.1_Missense_Mutation_p.G26E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	26						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTTTTGCCATCCTTGGTCCCC	0.517000														80			20		0	0	0.00229938	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379677	113379677	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:113379677C>T	uc003eam.3	-	6	1263	c.852G>A	c.(850-852)aaG>aaA	p.K284K	KIAA2018_uc003eal.3_Silent_p.K228K	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	284					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTGTCCATTCTTATTTTCAG	0.423000														53			22		0	0	0.00188189	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433164	72433164	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:72433164C>T	uc004ebi.3	-	0	1547	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	389					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTAAAAAATCATCATTTCCA	0.378000														16			16		0	0	0.000422831	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71940	71940	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrGL000209.1:71940C>T	uc002qui.2	+	2	101	c.90C>T	c.(88-90)ttC>ttT	p.F30F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.F27F|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	30					regulation of immune response	integral to membrane|plasma membrane	receptor activity										ACAAGCCCTTCCTGTCTGCCT	0.567000														90			31		0	0	0.00283554	0	0
DDI1	414301	broad.mit.edu	37	11	103908037	103908037	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:103908037C>T	uc001phr.2	+	0	730	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	163					proteolysis		aspartic-type endopeptidase activity	p.R163L(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTCAAGGAACGCAACCCTCC	0.612000														48			9		0	0	0.000442599	0	0
NEK11	79858	broad.mit.edu	37	3	130884308	130884308	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:130884308G>A	uc003eny.3	+	11	1447	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	NEK11_uc003enx.3_Missense_Mutation_p.R374Q|NEK11_uc003eoa.3_Missense_Mutation_p.R374Q|NEK11_uc003enz.3_Missense_Mutation_p.R192Q|NEK11_uc011blk.2_Missense_Mutation_p.R226Q|NEK11_uc011bll.2_Missense_Mutation_p.R269Q|NEK11_uc011blm.2_Missense_Mutation_p.R374Q	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	374					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AATAGCAAACGAATGCAAGAA	0.299000														28			7		0	0	0.000274275	0	0
ACPL2	92370	broad.mit.edu	37	3	140979071	140979071	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:140979071C>T	uc003etu.3	+	3	353	c.54C>T	c.(52-54)gcC>gcT	p.A18A	ACPL2_uc003etv.3_Silent_p.A18A|ACPL2_uc011bna.2_5'UTR|ACPL2_uc011bnb.2_5'Flank	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	18						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGCTGCTGGCCTTTGTGAGCC	0.547000														71			17		0	0	0.00188189	0	0
ITSN2	50618	broad.mit.edu	37	2	24438982	24438982	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:24438982A>G	uc002rfe.2	-	31	4184	c.3926T>C	c.(3925-3927)cTt>cCt	p.L1309P	ITSN2_uc002rff.2_Missense_Mutation_p.L1282P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1309	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCCATTAAGCTGGCAGCT	0.517000														59			17		0	0	0.000422831	0	0
C8B	732	broad.mit.edu	37	1	57422541	57422541	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:57422541C>T	uc001cyp.3	-	2	359	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	C8B_uc010oon.2_Missense_Mutation_p.E36K|C8B_uc010ooo.2_Missense_Mutation_p.E46K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	98	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G97W(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTGCACGGTTCCCCATGGAAC	0.522000														112			39		0	0	0.000814825	0	0
C1orf150	148823	broad.mit.edu	37	1	247737544	247737544	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:247737544G>A	uc001idf.3	+	4	415	c.268G>A	c.(268-270)Gag>Aag	p.E90K	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	90										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGGCTATGAGAACATTGA	0.458000														62			20		0	0	0.000958276	0	0
CEP70	80321	broad.mit.edu	37	3	138219316	138219317	+	Silent	DNP	GG	TT	TT			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:138219316_138219317GG>TT	uc003esl.3	-	14	1659_1660	c.1461_1462CC>AA	c.(1459-1464)ccccga>ccAAga	p.487_488PR>PR	CEP70_uc011bmk.2_Silent_p.467_468PR>PR|CEP70_uc011bml.2_Silent_p.469_470PR>PR|CEP70_uc011bmm.2_Silent_p.335_336PR>PR|CEP70_uc003esm.3_Silent_p.487_488PR>PR	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	487					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.R488R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCATTCATTCGGGGATAGACTC	0.376000														483			10		0	0	6.4e-05	0	0
APOC4	346	broad.mit.edu	37	19	45452559	45452559	+	RNA	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:45452559C>T	uc002pah.3	+	5		c.1566C>T			APOC4_uc021uvn.1_Non-coding_Transcript	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TCCCCTGATCCCCCAGGTTCA	0.498000														70			25		0	0	0.00278032	0	0
TULP1	7287	broad.mit.edu	37	6	35477481	35477481	+	Silent	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:35477481C>T	uc003okv.4	-	6	660	c.648G>A	c.(646-648)gcG>gcA	p.A216A	TULP1_uc003okw.4_Silent_p.A163A|TULP1_uc021yyx.1_Silent_p.A216A|TULP1_uc021yyy.1_Silent_p.A216A	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	216					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCTTCCTCGCACTGGCTG	0.602000														72			21		0	0	0.00188189	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808853	18808853	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:18808853G>A	uc001bax.3	+	0	1430	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E242K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	460						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGATGAGCGAAAACTACCT	0.642000														80			27		0	0	0.00106085	0	0
SLC12A5	57468	broad.mit.edu	37	20	44675062	44675062	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:44675062C>T	uc010zxl.1	+	13	1919	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Nonsense_Mutation_p.R592*	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	615					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACGCTTTCGATATTACCA	0.552000														49			13		0	0	0.000422831	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053780	95053780	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:95053780G>A	uc001ydm.2	+	2	291	c.81G>A	c.(79-81)atG>atA	p.M27I	SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.M27I(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612000														58			24		0	0	0.00278032	0	0
RUNX2	860	broad.mit.edu	37	6	45514845	45514845	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:45514845C>T	uc011dvx.2	+	8	1579	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	RUNX2_uc011dvy.2_Missense_Mutation_p.P435S|RUNX2_uc003oxt.3_Missense_Mutation_p.P443S	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	457	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTATCAGTTTCCCATGGTGCC	0.552000														47			20		0	0	0.00121646	0	0
LOC440563	440563	broad.mit.edu	37	1	13183251	13183252	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:13183251_13183252insT	uc010obg.2	-	1	864_865	c.621_622insA	c.(619-624)gaacagfs	p.E207fs		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	207						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGTTTGCTCTGTTCCTTTTCAA	0.426													---	330	---	---	24	---					
TOPBP1	11073	broad.mit.edu	37	3	133374154	133374154	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:133374154delA	uc003eps.3	-	5	854	c.722delT	c.(721-723)ctcfs	p.L241fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	241	BRCT 2.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTGCACAATGAGGTGTGTACA	0.318								Other conserved DNA damage response genes					---	129	---	---	23	---					
RAB11FIP2	22841	broad.mit.edu	37	10	119798647	119798647	+	Frame_Shift_Del	DEL	T	-	-	rs35192242		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:119798647delT	uc001ldj.2	-	2	1541	c.1101delA	c.(1099-1101)aaafs	p.K367fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.K367fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	367					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTCTGCTATCTTTTTTTCCAG	0.343													---	158	---	---	33	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	-	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:99641544_99641546delCTC	uc001yga.3	-	3	1894_1896	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_uc001ygb.3_In_Frame_Del_p.E472del	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	543	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								---	5	---	---	3	---					
ZNF624	57547	broad.mit.edu	37	17	16553035	16553037	+	In_Frame_Del	DEL	AAG	-	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:16553035_16553037delAAG	uc010cpi.2	-	1	114_116	c.22_24delCTT	c.(22-24)cttdel	p.L8del		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCTCTGGAAAGAGTGGAGTCT	0.458													---	62	---	---	14	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	GGC	GGC	rs71338073		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:77623691_77623692insGGC	uc010xfl.2	+	0	24_25	c.24_25insGGC	c.(22-27)insGGC	p.13_14insG		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	13	Poly-Gly.				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													---	3	---	---	4	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	-	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													---	147	---	---	7	---					
